Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR5K4	403278	broad.mit.edu	37	3	98072707	98072707	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:98072707G>A	ENST00000354924.2	+	1	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AATGGCTAGGGAAAATCACTC	0.393000													18	34					0	0	0.000958276	0	0
PRSS38	339501	broad.mit.edu	37	1	228004911	228004911	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:228004911G>A	ENST00000366757.3	+	3	337	c.311_splice	c.e3-1	p.D105_splice		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCCCCACAGGGACAAGAATAT	0.577000													14	32					0	0	0.000308642	0	0
PLEC	5339	broad.mit.edu	37	8	144997235	144997235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:144997235G>A	ENST00000322810.4	-	31	7442	c.7273C>T	c.(7273-7275)Caa>Taa	p.Q2425*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q2256*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q2288*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q2288*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q2315*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q2266*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q2311*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q2274*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q2292*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2425	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCCTCTTGGGCCGCCACA	0.642000													4	14					0	0	0.000602214	0	0
MYO18B	84700	broad.mit.edu	37	22	26165122	26165122	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:26165122G>A	ENST00000335473.7	+	4	1489	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	MYO18B_ENST00000407587.2_Silent_p.E413E|MYO18B_ENST00000536101.1_Silent_p.E413E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	413						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			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						GTCAGACAGAGAAGGGCTGTG	0.612000													4	13					0	0	0.00024832	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227115	25227115	+	RNA	SNP	A	A	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:25227115A>C	ENST00000551631.2	+	0	418					NR_001293.1																						AAGAGAAATAAGCATATATTG	0.363000													37	325					0	0	0.00148497	0	0
BSN	8927	broad.mit.edu	37	3	49689342	49689342	+	Missense_Mutation	SNP	G	G	A	rs139369583		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49689342G>A	ENST00000296452.4	+	5	2467	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	785					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGGAAGACGAAGACTCTGC	0.597000													12	12					0	0	0.00136819	0	0
RNF43	54894	broad.mit.edu	37	17	56435718	56435718	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:56435718G>A	ENST00000584437.1	-	8	3374	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	RNF43_ENST00000407977.2_Silent_p.G473G|RNF43_ENST00000581868.1_Silent_p.G346G|RNF43_ENST00000583753.1_Silent_p.G432G|RNF43_ENST00000577625.1_Silent_p.G346G|RNF43_ENST00000577716.1_Silent_p.G473G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Silent_p.G432G			Q68DV7	RNF43_HUMAN	ring finger protein 43	473	Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTGGAAGAGCCATGACAGG	0.572000													48	19					0	0	0.000781405	0	0
FLT1	2321	broad.mit.edu	37	13	29041706	29041706	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:29041706C>T	ENST00000282397.4	-	2	364	c.113G>A	c.(112-114)gGc>gAc	p.G38D	FLT1_ENST00000541932.1_Missense_Mutation_p.G38D|FLT1_ENST00000539099.1_Missense_Mutation_p.G38D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	38	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGCTGGGTGCCTTTTAAACT	0.378000													10	16					0	0	0.000308642	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927154	53927154	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:53927154C>T	ENST00000371445.3	+	2	641	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	196	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGTGCGCCCTCTGAACATCAA	0.662000													22	39					0	0	0.00127121	0	0
FAM83C	128876	broad.mit.edu	37	20	33876313	33876313	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:33876313C>T	ENST00000374408.3	-	3	853	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	253								p.E253K(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACGAACTTCTCCAGGGCCTGC	0.632000													17	30					0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179590565	179590565	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179590565G>A	ENST00000589042.1	-	70	20708	c.20484C>T	c.(20482-20484)atC>atT	p.I6828I	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I6511I|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.I5584I|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6511	Ig-like 50.						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)			GGTATTCACCGATGTCTGAAG	0.388000													34	51					0	0	0.000953801	0	0
DBH	1621	broad.mit.edu	37	9	136508583	136508583	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:136508583G>A	ENST00000393056.2	+	4	805	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	265					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCACCACATGGAAGTCTTCCA	0.657000													21	9					0	0	0.000586117	0	0
TRIML1	339976	broad.mit.edu	37	4	189068190	189068190	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:189068190C>T	ENST00000332517.3	+	6	1211	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	357	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGTGGGCATCTGCAAGGACT	0.532000													17	31					0	0	0.00074312	0	0
NBEA	26960	broad.mit.edu	37	13	35733303	35733303	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:35733303G>A	ENST00000400445.3	+	22	3529	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	NBEA_ENST00000540320.1_Missense_Mutation_p.E999K|NBEA_ENST00000379939.2_Missense_Mutation_p.E999K|NBEA_ENST00000310336.4_Missense_Mutation_p.E999K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	999						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGTGGAATGGAAATTCGAGA	0.428000													36	61					0	0	0.00148497	0	0
PCLO	27445	broad.mit.edu	37	7	82582358	82582358	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:82582358C>T	ENST00000423517.2	-	5	8248	c.7911G>A	c.(7909-7911)caG>caA	p.Q2637Q	PCLO_ENST00000333891.8_Silent_p.Q2637Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2568					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q2568H(1)|p.Q2637H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGAAGGTCTGTTCTGAAG	0.458000													33	49					0	0	0.00058488	0	0
ACAN	176	broad.mit.edu	37	15	89400408	89400408	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:89400408G>A	ENST00000439576.2	+	12	4966	c.4592G>A	c.(4591-4593)gGa>gAa	p.G1531E	ACAN_ENST00000561243.1_Missense_Mutation_p.G1531E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1531E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1531E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1531					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCTTCTGGAGAAGAAGTT	0.507000													14	27					0	0	0.00185496	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507374	130507374	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:130507374G>A	ENST00000314830.8	-	7	1382	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.T266T|SH2D3C_ENST00000373274.3_Silent_p.T263T|SH2D3C_ENST00000420366.1_Silent_p.T265T|SH2D3C_ENST00000373276.3_Silent_p.T355T|SH2D3C_ENST00000429553.1_Silent_p.T69T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	423					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGGACACGGGTTACTGCAG	0.627000													5	8					0	0	0.00116845	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606659	159606659	+	Silent	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:159606659A>G	ENST00000337808.6	+	6	1822	c.1245A>G	c.(1243-1245)aaA>aaG	p.K415K	SCHIP1_ENST00000445224.2_Silent_p.K172K|SCHIP1_ENST00000482804.1_Silent_p.K188K|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.K402K|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.K375K|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.K464K|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.K491K|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.K183K	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		415						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GAAGTTTAAAACCCACCGACC	0.408000													28	48					0	0	0.001512	0	0
RYR2	6262	broad.mit.edu	37	1	237850796	237850796	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:237850796C>T	ENST00000366574.2	+	63	9376	c.9059C>T	c.(9058-9060)tCa>tTa	p.S3020L	RYR2_ENST00000360064.6_Missense_Mutation_p.S3018L|RYR2_ENST00000542537.1_Missense_Mutation_p.S3004L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3020					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATAGGATTTCACTATTTGGT	0.413000													5	20					0	0	0.00116845	0	0
KCNB1	3745	broad.mit.edu	37	20	47990861	47990861	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:47990861G>A	ENST00000371741.4	-	2	1402	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	412					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTTATTGACGATGATGGGGA	0.512000													21	59					0	0	0.00188189	0	0
KMO	8564	broad.mit.edu	37	1	241752099	241752099	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:241752099G>A	ENST00000366559.4	+	12	1376	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	KMO_ENST00000366558.3_Silent_p.A355A|KMO_ENST00000366557.4_Silent_p.A355A	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	355					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	p.A355A(3)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATGATCACGCGATTTCAGACC	0.363000													19	57					0	0	0.00152264	0	0
PADI3	51702	broad.mit.edu	37	1	17603120	17603120	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:17603120G>A	ENST00000375460.3	+	12	1454	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	472					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)	GGGCCATGTGGATGAGTTTCT	0.612000													14	35					0	0	0.000566183	0	0
PRSS23	11098	broad.mit.edu	37	11	86518751	86518751	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:86518751C>A	ENST00000280258.5	+	2	491	c.66C>A	c.(64-66)agC>agA	p.S22R	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.S22R	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	22					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGCAAGTGAGCCCTTACAGTG	0.557000													5	71					0.00116845	0.00516158	0.00116845	1	0
C5orf42	65250	broad.mit.edu	37	5	37157847	37157847	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:37157847G>A	ENST00000274258.7	-	40	8163	c.4576C>T	c.(4576-4578)Cca>Tca	p.P1526S	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2628S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2628S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2628										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCAGACGATGGAACTGCTAGA	0.363000													25	58					0	0	0.00127121	0	0
PRR21	643905	broad.mit.edu	37	2	240981381	240981381	+	Missense_Mutation	SNP	G	G	A	rs143332815		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:240981381G>A	ENST00000408934.1	-	1	1018	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	340								p.S340L(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGACTTGGATGAAGAGGCATG	0.587000													42	57					0	0	0.00170553	0	0
SLC30A8	169026	broad.mit.edu	37	8	118175718	118175718	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:118175718T>G	ENST00000427715.2	+	9	1065	c.631T>G	c.(631-633)Ttg>Gtg	p.L211V	SLC30A8_ENST00000521243.1_Missense_Mutation_p.L211V|SLC30A8_ENST00000519688.1_Missense_Mutation_p.L211V|SLC30A8_ENST00000456015.2_Missense_Mutation_p.L260V	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	260					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			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)			CATCCTGGTCTTGGCCAGCAC	0.403000													38	469					0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	167992518	167992518	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:167992518G>A	ENST00000409195.1	+	3	597	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E170K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E170K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E170K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E170K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E170K|XIRP2-AS1_ENST00000525330.1_RNA	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAGGCAAGGAAACATCTTT	0.438000													24	48					0	0	0.000586117	0	0
POU4F2	5458	broad.mit.edu	37	4	147561591	147561591	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:147561591G>A	ENST00000281321.3	+	2	1109	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	287	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCAACCTCAAGATCCCCGGCG	0.627000													8	23					0	0	0.000442599	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24257753	24257753	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:24257753C>T	ENST00000538205.1	+	12	1392	c.845C>T	c.(844-846)cCt>cTt	p.P282L	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.P361L|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P282L	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	361	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTTGGTATGCCTGATGTTCCA	0.403000													14	31					0	0	0.000308642	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145830929	145830929	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:145830929G>A	ENST00000276826.5	-	1	272	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S24L|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S24L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	24					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCGAGTGTTCGACCCTGGAAT	0.612000													16	29					0	0	0.00121646	0	0
POTEF	728378	broad.mit.edu	37	2	130832816	130832816	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:130832816C>T	ENST00000357462.5	-	15	2322	c.2229G>A	c.(2227-2229)atG>atA	p.M743I	POTEF_ENST00000409914.2_Missense_Mutation_p.M743I			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	743	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCCCCATCATGCCCTGCT	0.617000													20	33					0	0	0.00106085	0	0
KIF13A	63971	broad.mit.edu	37	6	17817358	17817358	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:17817358G>A	ENST00000378814.5	-	17	1892	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L	KIF13A_ENST00000378816.5_Silent_p.L631L|KIF13A_ENST00000378826.2_Silent_p.L631L|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378843.2_Silent_p.L631L|KIF13A_ENST00000259711.6_Silent_p.L631L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	631					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGCTGGCGGAGTTGCTCCA	0.587000													17	26					0	0	0.000566183	0	0
CTD-2090I13.1	0	broad.mit.edu	37	1	227618339	227618339	+	RNA	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:227618339C>T	ENST00000445817.1	+	0	1574																											GGCTGTGGGTCGAAGATATGC	0.502000													12	26					0	0	0.00244969	0	0
ZAN	7455	broad.mit.edu	37	7	100349913	100349913	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100349913G>A	ENST00000542585.1	+	0	2333				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			CATCCCCACAGAAAAATCCAC	0.522000													12	21					0	0	0.00136819	0	0
WNK1	65125	broad.mit.edu	37	12	971408	971408	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:971408C>T	ENST00000537687.1	+	8	2754	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	WNK1_ENST00000340908.4_Missense_Mutation_p.P297L|WNK1_ENST00000315939.6_Missense_Mutation_p.P704L|WNK1_ENST00000535572.1_Missense_Mutation_p.P704L|WNK1_ENST00000530271.2_Missense_Mutation_p.P704L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	704					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGTCTCAGCCCCATGGGGTA	0.433000													22	32					0	0	0.000720815	0	0
BCAM	4059	broad.mit.edu	37	19	45323972	45323972	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:45323972G>A	ENST00000270233.6	+	14	1796	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	592					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCCGCCAGGGGAGCCAGGGCT	0.716000													9	14					0	0	0.00136819	0	0
CNTN5	53942	broad.mit.edu	37	11	100141954	100141954	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:100141954G>A	ENST00000524871.1	+	18	2585	c.2295G>A	c.(2293-2295)atG>atA	p.M765I	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.M691I|CNTN5_ENST00000528682.1_Missense_Mutation_p.M765I|CNTN5_ENST00000279463.3_Missense_Mutation_p.M765I|CNTN5_ENST00000527185.1_Missense_Mutation_p.M765I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	765	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)		CATCTCGAATGATCCGCACAA	0.453000													10	10					0	0	0.000673444	0	0
CACNA1E	777	broad.mit.edu	37	1	181765921	181765921	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:181765921C>T	ENST00000526775.1	+	45	6305	c.6140C>T	c.(6139-6141)gCt>gTt	p.A2047V	CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1998V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A2066V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A2109V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A2090V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A2060V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1673V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2109					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A2066V(1)|p.A2109V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGACCCAGGCTGACTGGGAG	0.612000													8	9					0	0	0.000274275	0	0
ZNF230	7773	broad.mit.edu	37	19	44514759	44514759	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:44514759C>T	ENST00000429154.2	+	5	796	c.568C>T	c.(568-570)Cac>Tac	p.H190Y		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CCAGAGAGTTCACTTGAGAGA	0.463000													40	52					0	0	0.0025221	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484325	24484325	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:24484325G>A	ENST00000327575.2	-	6	739	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000327535.1_Silent_p.S286S	NM_173065.2	NP_775088.1			interferon, lambda receptor 1																		AGTCATTCACGGACTCTGGTC	0.542000													34	78					0	0	0.00283554	0	0
OR10G9	219870	broad.mit.edu	37	11	123894512	123894512	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:123894512G>A	ENST00000375024.1	+	1	793	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		AGGCTCCAGGGACGTCGTGGA	0.522000													34	19					0	0	0.000692331	0	0
SLC6A4	6532	broad.mit.edu	37	17	28538366	28538366	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:28538366G>A	ENST00000401766.2	-	9	1793	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	SLC6A4_ENST00000261707.3_Silent_p.F427F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	427					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ACATCAGAAAGAAGATGATGG	0.537000													25	16					0	0	0.00106085	0	0
IRX2	153572	broad.mit.edu	37	5	2749606	2749606	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:2749606G>T	ENST00000382611.6	-	2	793	c.545C>A	c.(544-546)cCg>cAg	p.P182Q	IRX2_ENST00000302057.5_Missense_Mutation_p.P182Q|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TTTGTTTCTCGGGGCCCAGGT	0.612000													5	67					0.00198382	0.00873923	0.00198382	1	0
UBASH3B	84959	broad.mit.edu	37	11	122647762	122647762	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:122647762G>A	ENST00000284273.5	+	3	621	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	82						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACCCCTTCCTGGATGACCCCC	0.547000													15	10					0	0	0.000958276	0	0
DGKI	9162	broad.mit.edu	37	7	137237174	137237174	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:137237174C>T	ENST00000453654.1	-	20	1727	c.1188G>A	c.(1186-1188)agG>agA	p.R396R	DGKI_ENST00000288490.5_Silent_p.R696R|DGKI_ENST00000424189.2_Silent_p.R696R|DGKI_ENST00000446122.1_Silent_p.R696R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	696	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGGCCTGATTCCTCAGGGAGA	0.493000													21	50					0	0	0.00152264	0	0
ADAM22	53616	broad.mit.edu	37	7	87759716	87759716	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:87759716G>A	ENST00000398204.4	+	10	1090	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	ADAM22_ENST00000265727.7_Missense_Mutation_p.R256Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R256Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.R256Q|ADAM22_ENST00000439864.1_Missense_Mutation_p.R256Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R256Q	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	256	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAAACATCGGCTTTCCGTT	0.368000													30	59					0	0	0.00058488	0	0
ADAM28	10863	broad.mit.edu	37	8	24207392	24207392	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:24207392T>G	ENST00000265769.4	+	19	2116	c.2006T>G	c.(2005-2007)gTt>gGt	p.V669G	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G417G|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	669					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCCATTGTGGTTGGGGTGCTG	0.502000													7	124					0	0	0.000157383	0	0
EPHB4	2050	broad.mit.edu	37	7	100421842	100421842	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100421842G>A	ENST00000358173.3	-	2	574	c.106C>T	c.(106-108)Cct>Tct	p.P36S	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.P36S	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	36					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCACCTGAGGGAATGTCACC	0.597000													40	62					0	0	0.000781405	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059832	79059832	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:79059832C>T	ENST00000388820.4	-	18	2958	c.2748G>A	c.(2746-2748)caG>caA	p.Q916Q	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	916	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCAGGGCGCTCTGCTCATCCA	0.706000													8	15					0	0	0.000274275	0	0
RABEP2	79874	broad.mit.edu	37	16	28935917	28935917	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:28935917G>A	ENST00000358201.4	-	2	669	c.81C>T	c.(79-81)tcC>tcT	p.S27S	RABEP2_ENST00000357573.6_Silent_p.S27S|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_Intron	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	27					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCCCTTCCTGGGACCGGGAGT	0.617000													8	29					0	0	0.000274275	0	0
CSMD1	64478	broad.mit.edu	37	8	3565998	3565998	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:3565998T>C	ENST00000520002.1	-	7	1502	c.947A>G	c.(946-948)gAg>gGg	p.E316G	CSMD1_ENST00000602723.1_Missense_Mutation_p.E316G|CSMD1_ENST00000542608.1_Missense_Mutation_p.E316G|CSMD1_ENST00000602557.1_Missense_Mutation_p.E316G|CSMD1_ENST00000537824.1_Missense_Mutation_p.E316G|CSMD1_ENST00000539096.1_Missense_Mutation_p.E316G|CSMD1_ENST00000400186.3_Missense_Mutation_p.E316G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	316						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACTTCAACTCAATCGCCTT	0.438000													6	55					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179644115	179644115	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179644115T>A	ENST00000589042.1	-	23	4028	c.3804A>T	c.(3802-3804)gaA>gaT	p.E1268D	TTN_ENST00000460472.2_Missense_Mutation_p.E1222D|TTN_ENST00000591111.1_Missense_Mutation_p.E1268D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1222D|TTN_ENST00000360870.5_Missense_Mutation_p.E1268D|TTN_ENST00000342992.6_Missense_Mutation_p.E1268D|TTN_ENST00000359218.5_Missense_Mutation_p.E1222D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1268							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)			CAAGAAGTTCTTCTAATGTAG	0.299000													11	22					0	0	0.000673444	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692110	106692110	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:106692110G>A	ENST00000390607.2	-	0	93																											AAACCCAGCGGAGCCCCAGTT	0.498000													46	41					0	0	0.000781405	0	0
ARAP1	116985	broad.mit.edu	37	11	72422542	72422542	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:72422542G>A	ENST00000359373.5	-	8	1876	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ARAP1_ENST00000426523.1_Missense_Mutation_p.S97F|ARAP1_ENST00000393605.3_Missense_Mutation_p.S102F|ARAP1_ENST00000393609.3_Missense_Mutation_p.S342F|ARAP1_ENST00000334211.8_Missense_Mutation_p.S97F|ARAP1_ENST00000429686.1_Missense_Mutation_p.S97F|ARAP1_ENST00000455638.2_Missense_Mutation_p.S342F			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	342	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATAGATGTAAGATCTGGAGAG	0.542000													72	134					0	0	0.000781405	0	0
FAM120B	84498	broad.mit.edu	37	6	170632278	170632278	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:170632278C>T	ENST00000476287.1	+	3	1954	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	FAM120B_ENST00000540480.1_Missense_Mutation_p.P628S|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P639S	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	616					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCAGGCCTTACCCAGCCAGGC	0.502000													26	9					0	0	0.000878237	0	0
ZNF71	58491	broad.mit.edu	37	19	57133224	57133224	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:57133224A>T	ENST00000328070.6	+	3	803	c.569A>T	c.(568-570)gAc>gTc	p.D190V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	190						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCTGCGGGGACTGCGGCAAG	0.637000													22	22					0	0	0.00152264	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619805	28619805	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:28619805G>A	ENST00000395609.1	-	5	1026	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	SULT1A1_ENST00000395607.1_Missense_Mutation_p.P90S|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.P90S|SULT1A1_ENST00000314752.7_Missense_Mutation_p.P90S			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	90				P -> L (in Ref. 3; AAA67895).	3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ACACCTGAGGGAATCCCTGGG	0.587000													10	24					0	0	0.000978159	0	0
ADCY1	107	broad.mit.edu	37	7	45717629	45717629	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:45717629C>T	ENST00000297323.7	+	9	1789	c.1767C>T	c.(1765-1767)acC>acT	p.T589T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	589					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTTCTTTACCCTGAAGTACA	0.567000													17	39					0	0	0.000566183	0	0
ZNFX1	57169	broad.mit.edu	37	20	47881325	47881325	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:47881325G>A	ENST00000396105.1	-	5	2325	c.2079C>T	c.(2077-2079)acC>acT	p.T693T	ZNFX1_ENST00000371754.4_Silent_p.T693T|ZNFX1_ENST00000371752.1_Silent_p.T693T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	693							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTCCCTTAGGGTGAACTGCT	0.542000													35	65					0	0	0.00058488	0	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:34149264C>T	ENST00000346193.3	-	1	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	378								p.E378*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637000													16	6					0	0	0.000566183	0	0
DRGX	644168	broad.mit.edu	37	10	50594844	50594844	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:50594844C>T	ENST00000374139.2	-	4	305	c.295G>A	c.(295-297)Gag>Aag	p.E99K	DRGX_ENST00000434016.1_Missense_Mutation_p.E104K			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	104					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTCCTGGCTCCTGGTCTGAG	0.562000													43	32					0	0	0.000781405	0	0
MBD5	55777	broad.mit.edu	37	2	149226884	149226884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:149226884C>T	ENST00000407073.1	+	9	2369	c.1372C>T	c.(1372-1374)Caa>Taa	p.Q458*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.Q458*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	458						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGCATCGCCCCAAAGATCACG	0.512000													10	11					0	0	0.000978159	0	0
RPS2	6187	broad.mit.edu	37	16	2012137	2012137	+	Missense_Mutation	SNP	C	C	T	rs142405634	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:2012137C>T	ENST00000343262.4	-	7	900	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000526522.1_Missense_Mutation_p.V224M|RPS2_ENST00000530225.1_3'UTR	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	282					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTCCGCTGCACGGAGACTCTG	0.498000													15	23					0	0	0.000566183	0	0
PYGM	5837	broad.mit.edu	37	11	64525338	64525338	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:64525338C>T	ENST00000164139.3	-	5	971	c.573G>A	c.(571-573)gaG>gaA	p.E191E	PYGM_ENST00000377432.3_Silent_p.E103E	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	191					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)	GCCGGGCCTTCTCCCAGGGGT	0.612000													12	33					0	0	0.000308642	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76574680	76574680	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:76574680G>A	ENST00000307431.8	+	22	3817	c.3432G>A	c.(3430-3432)agG>agA	p.R1144R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.R1148R|CNTNAP4_ENST00000478060.1_Silent_p.R1072R|CNTNAP4_ENST00000377504.4_Silent_p.R1096R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1145	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATTGGGCAGGATTTTAGGTA	0.388000													4	4					0	0	0.00024832	0	0
SEMA4A	64218	broad.mit.edu	37	1	156130705	156130705	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:156130705C>T	ENST00000368285.3	+	8	962	c.695C>T	c.(694-696)tCc>tTc	p.S232F	SEMA4A_ENST00000368286.2_Missense_Mutation_p.S100F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S232F|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S232F|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S100F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	232	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GATGACGCCTCCTTTGTGGCA	0.602000													42	52					0	0	0.00195071	0	0
HOXA5	3202	broad.mit.edu	37	7	27181684	27181684	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:27181684C>T	ENST00000222726.3	-	2	643	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	195					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GCCCTTTTGCCTTCCGGGCCG	0.567000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	28					0	0	0.000673444	0	0
DISC1	27185	broad.mit.edu	37	1	231858340	231858340	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:231858340C>T	ENST00000317586.4	+	3	1156	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	DISC1_ENST00000602281.1_Intron|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Intron|DISC1_ENST00000539444.1_Intron|TRAX_ENST00000602962.1_Intron|DISC1_ENST00000439617.2_Intron|DISC1_ENST00000366636.4_Intron|DISC1_ENST00000366633.3_Intron|DISC1_ENST00000366637.3_Intron|DISC1_ENST00000602873.1_Intron	NM_001012958.1	NP_001012976.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	0	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAACCAAACTCCTATTAATGA	0.393000													16	38					0	0	0.00074312	0	0
EYA2	2139	broad.mit.edu	37	20	45808552	45808552	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:45808552C>T	ENST00000327619.5	+	13	1679	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	EYA2_ENST00000317304.6_Silent_p.I405I|EYA2_ENST00000357410.3_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	435					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TAAACCTCATCAACTCCCGGC	0.557000													7	18					0	0	0.000274275	0	0
C2orf54	79919	broad.mit.edu	37	2	241831074	241831074	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:241831074C>T	ENST00000307486.8	-	2	272	c.174G>A	c.(172-174)agG>agA	p.R58R	C2orf54_ENST00000402775.2_Silent_p.R39R|C2orf54_ENST00000388934.4_Silent_p.R207R			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	207										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCCCAAGCTTCCTTCTCACCA	0.652000													23	30					0	0	0.00047179	0	0
OR6C1	390321	broad.mit.edu	37	12	55715045	55715045	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:55715045G>A	ENST00000379668.2	+	1	700	c.662G>A	c.(661-663)aGa>aAa	p.R221K		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TACATTATCAGAACAATTTTG	0.383000													28	15					0	0	0.00106085	0	0
PADI1	29943	broad.mit.edu	37	1	17557156	17557156	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:17557156C>T	ENST00000375471.4	+	10	1235	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	381					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGAAAGATTTCCCCTATAAGA	0.567000													7	11					0	0	0.000157383	0	0
FKBP15	23307	broad.mit.edu	37	9	115947059	115947059	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:115947059G>A	ENST00000238256.3	-	16	1641	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	508					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTCAGTCATGAGAAATGAAG	0.413000													6	4					0	0	0.00198382	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690291	26690291	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:26690291G>A	ENST00000529632.2	+	3	1065	c.869G>A	c.(868-870)gGg>gAg	p.G290E	SEZ6L_ENST00000402979.1_Missense_Mutation_p.G63E|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G63E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G290E|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G290E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G290E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G290E	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	290	CUB 1.					endoplasmic reticulum membrane|integral to membrane				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						AATCCTGAGGGGTACATTGAC	0.517000													27	57					0	0	0.00178596	0	0
SCN11A	11280	broad.mit.edu	37	3	38888196	38888196	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:38888196G>A	ENST00000450244.1	-	26	5563	c.5365C>T	c.(5365-5367)Cac>Tac	p.H1789Y	SCN11A_ENST00000456224.3_Missense_Mutation_p.H1751Y|SCN11A_ENST00000302328.3_Missense_Mutation_p.H1789Y			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1789					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTCACAGTGGACCTTGCCC	0.547000													20	19					0	0	0.00278032	0	0
TTC17	55761	broad.mit.edu	37	11	43469611	43469611	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:43469611C>T	ENST00000039989.4	+	19	2739	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	909							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCTCAAACTCCGCTGGGTAGA	0.483000													20	25					0	0	0.000958276	0	0
OR5L1	219437	broad.mit.edu	37	11	55579818	55579818	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:55579818G>A	ENST00000333973.2	+	1	965	c.876G>A	c.(874-876)ctG>ctA	p.L292L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	292					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)				TCTACAGCCTGAGAAATAAAG	0.443000													18	20					0	0	0.00152264	0	0
CPA3	1359	broad.mit.edu	37	3	148599379	148599379	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:148599379C>T	ENST00000296046.3	+	7	699	c.647C>T	c.(646-648)cCt>cTt	p.P216L	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	216					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TACATTCTTCCTGTGTTCAAT	0.343000													10	38					0	0	0.00136819	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518865	113518865	+	Missense_Mutation	SNP	C	C	T	rs62001880	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:113518865C>T	ENST00000284601.3	-	4	2350	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	761					glycogen metabolic process	integral to membrane		p.R761Q(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTGTCACTTCGTGCTGTCTC	0.413000													36	81					0	0	0.00222228	0	0
ATP8A1	10396	broad.mit.edu	37	4	42545962	42545962	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:42545962C>T	ENST00000381668.5	-	20	1925	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G550E	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	565					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCGTAACTTTCCAGATGGAGT	0.328000													18	28					0	0	0.000958276	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564961	61564961	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:61564961G>A	ENST00000457692.1	+	6	751	c.417_splice	c.e6-1	p.E140_splice	SERPINB2_ENST00000299502.4_Splice_Site_p.E140_splice|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	140					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGCTTTAAAGGAATATATTCG	0.378000													21	36					0	0	0.000586117	0	0
DEFA4	1669	broad.mit.edu	37	8	6794346	6794346	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:6794346C>A	ENST00000297435.2	-	2	200	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	26					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCCTCATCACCTCTTGCCTGG	0.577000													16	35					1.5739e-10	7.011e-10	0.000422831	1	0
DHCR7	1717	broad.mit.edu	37	11	71146507	71146507	+	Missense_Mutation	SNP	C	C	T	rs80338864		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:71146507C>T	ENST00000355527.3	-	9	1618	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	DHCR7_ENST00000407721.2_Missense_Mutation_p.E448K	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	448			E -> K (in SLOS; mild).|E -> Q (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGCGGTGCTCGTCCCGGAGG	0.667000									Smith-Lemli-Opitz syndrome				21	20					0	0	0.00152264	0	0
DGKG	1608	broad.mit.edu	37	3	185997672	185997672	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:185997672G>A	ENST00000265022.3	-	9	1299	c.760C>T	c.(760-762)Cca>Tca	p.P254S	DGKG_ENST00000344484.4_Missense_Mutation_p.P254S|DGKG_ENST00000544847.1_Missense_Mutation_p.P254S|DGKG_ENST00000382164.4_Missense_Mutation_p.P254S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	254	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCAGCAATGGGATGGTGGTC	0.498000													32	40					0	0	0.001512	0	0
NAV3	89795	broad.mit.edu	37	12	78593243	78593243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:78593243G>A	ENST00000397909.2	+	37	6820	c.6647G>A	c.(6646-6648)tGg>tAg	p.W2216*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.W2194*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.W2017*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.W2194*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.W46*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2216						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTATAGATTGGATTCCGAAG	0.363000										HNSCC(70;0.22)			37	23					0	0	0.00148497	0	0
ERC2	26059	broad.mit.edu	37	3	56468884	56468884	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:56468884G>A	ENST00000288221.6	-	2	407	c.152C>T	c.(151-153)tCc>tTc	p.S51F		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	51						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGCATTGAGGGACTGGATATT	0.532000													26	36					0	0	0.000878237	0	0
MUC5AC	4586	broad.mit.edu	37	11	1162342	1162342	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:1162342C>T	ENST00000356191.2	+	20	1842	c.1842C>T	c.(1840-1842)tgC>tgT	p.614_614insC						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		AGGACCCCTGCTCTCTGAGCG	0.652000													6	15					0	0	0.00116845	0	0
SOGA2	23255	broad.mit.edu	37	18	8825578	8825578	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:8825578C>T	ENST00000359865.3	+	15	4212	c.4070C>T	c.(4069-4071)cCc>cTc	p.P1357L	SOGA2_ENST00000306329.11_Missense_Mutation_p.P1676L|SOGA2_ENST00000518815.1_Missense_Mutation_p.P682L|SOGA2_ENST00000400050.3_Missense_Mutation_p.P1316L|SOGA2_ENST00000306285.7_Missense_Mutation_p.P682L|SOGA2_ENST00000517570.1_Missense_Mutation_p.P1316L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1667																	GGTGCTACACCCGTGTCGTCT	0.617000													13	11					0	0	0.00185496	0	0
SLC24A1	9187	broad.mit.edu	37	15	65916838	65916838	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:65916838G>A	ENST00000261892.6	+	2	707	c.420G>A	c.(418-420)agG>agA	p.R140R	SLC24A1_ENST00000537259.1_Silent_p.R140R|SLC24A1_ENST00000544319.2_Silent_p.R140R|SLC24A1_ENST00000399033.4_Silent_p.R140R|SLC24A1_ENST00000339868.6_Silent_p.R140R|SLC24A1_ENST00000546330.1_Silent_p.R140R	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	140					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGAAAGAAGGAAGGAAGACA	0.438000													5	11					0	0	0.000602214	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613332	175613332	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:175613332C>T	ENST00000348749.5	-	8	1295	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000261007.5_Missense_Mutation_p.M431I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.M324I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	431					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GGTCTGACTTCATGGTCTCTG	0.507000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	39					0	0	0.00152264	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664720	50664720	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:50664720G>A	ENST00000439308.2	-	8	2181	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	TUBGCP6_ENST00000248846.5_Silent_p.F563F	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	563					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACCTACCTCGGAAGCTGAGGT	0.612000													11	14					0	0	0.000673444	0	0
DNAH7	56171	broad.mit.edu	37	2	196891526	196891526	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:196891526C>T	ENST00000312428.6	-	7	725	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	DNAH7_ENST00000410072.1_Missense_Mutation_p.E209K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	209	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						TCTCTCATTTCATCAGATAAT	0.338000													17	32					0	0	0.000958276	0	0
SORT1	6272	broad.mit.edu	37	1	109859567	109859567	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:109859567G>A	ENST00000256637.6	-	17	2213	c.2155C>T	c.(2155-2157)Cca>Tca	p.P719S	SORT1_ENST00000538502.1_Missense_Mutation_p.P582S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	719	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGTCCCCTGGAATTTTCCGG	0.413000													126	225					0	0	0.000781405	0	0
HERC2	8924	broad.mit.edu	37	15	28408300	28408300	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:28408300C>T	ENST00000261609.7	-	69	10794	c.10686G>A	c.(10684-10686)ggG>ggA	p.G3562G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3562					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCCCCTGTCCCCGGCCCGGC	0.647000													17	42					0	0	0.000566183	0	0
OR2T3	343173	broad.mit.edu	37	1	248637223	248637223	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248637223A>C	ENST00000359594.2	+	1	597	c.572A>C	c.(571-573)aAg>aCg	p.K191T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCCTGCTGAAGCTCTCCTGC	0.512000													5	152					0	0	0.00116845	0	0
PRSS54	221191	broad.mit.edu	37	16	58314233	58314233	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:58314233C>T	ENST00000219301.4	-	7	1477	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	PRSS54_ENST00000567164.1_Silent_p.G361G|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.G262G|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	361					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCCCACCTCCCCACCGTAAT	0.463000													13	33					0	0	0.00185496	0	0
DSG3	1830	broad.mit.edu	37	18	29046629	29046629	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:29046629G>A	ENST00000257189.4	+	11	1631	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	516					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.L516L(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTAGAACACTGAATAATAGAT	0.443000													35	67					0	0	0.00283554	0	0
WDFY3	23001	broad.mit.edu	37	4	85676491	85676491	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:85676491G>A	ENST00000322366.6	-	34	5894	c.5487C>T	c.(5485-5487)gtC>gtT	p.V1829V	WDFY3_ENST00000295888.4_Silent_p.V1829V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1829						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGATAGAAGAGACCACAGTTC	0.443000													29	30					0	0	0.00209593	0	0
OR51G2	81282	broad.mit.edu	37	11	4936151	4936151	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:4936151G>A	ENST00000322013.3	-	1	771	c.743C>T	c.(742-744)tCc>tTc	p.S248F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGGGAAACACAGGT	0.552000													31	49					0	0	0.00283554	0	0
SLC36A1	206358	broad.mit.edu	37	5	150838400	150838400	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:150838400C>T	ENST00000243389.3	+	2	270	c.47C>T	c.(46-48)tCc>tTc	p.S16F	SLC36A1_ENST00000521925.1_Missense_Mutation_p.S16F|SLC36A1_ENST00000520701.1_Missense_Mutation_p.S16F|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000429484.2_Missense_Mutation_p.S16F	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	16					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GACTACAGCTCCACGGACGTG	0.592000													27	8					0	0	0.000586117	0	0
NTRK3	4916	broad.mit.edu	37	15	88524568	88524568	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:88524568G>A	ENST00000317501.3	-	14	1770	c.1609C>T	c.(1609-1611)Cat>Tat	p.H537Y	NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.H537Y	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			aatatcccatgattgtctatg	0.413000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			27	44					0	0	0.000720815	0	0
ITGA10	8515	broad.mit.edu	37	1	145531024	145531024	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:145531024C>T	ENST00000369304.3	+	7	931	c.756C>T	c.(754-756)gcC>gcT	p.A252A	ITGA10_ENST00000539363.1_Silent_p.A109A|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Silent_p.A121A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	252	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAATGGTGGCCTGGTGAGGCA	0.557000													9	35					0	0	0.000978159	0	0
IPP	3652	broad.mit.edu	37	1	46195343	46195343	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:46195343G>A	ENST00000396478.3	-	4	925	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	275						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					GATGTCTGCAGAAAACTACAA	0.373000													32	54					0	0	0.000953801	0	0
OR4A47	403253	broad.mit.edu	37	11	48510399	48510399	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:48510399C>T	ENST00000446524.1	+	1	131	c.55C>T	c.(55-57)Cca>Tca	p.P19S		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CACACAGAATCCAAAGGAGCA	0.418000													10	23					0	0	0.000978159	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597977	70597977	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:70597977C>T	ENST00000333538.5	+	1	823	c.189C>T	c.(187-189)gtC>gtT	p.V63V		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	63						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGATGCGGTCCTGAAGCGCC	0.726000													6	10					0	0	0.00116845	0	0
FBXO22	26263	broad.mit.edu	37	15	76225279	76225279	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:76225279C>T	ENST00000308275.3	+	7	1153	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	FBXO22_ENST00000540507.1_Missense_Mutation_p.P246S	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	350					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AAAGTTTTTTCCTAGTGTTCC	0.413000													24	52					0	0	0.00106085	0	0
OR2F1	26211	broad.mit.edu	37	7	143657954	143657954	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:143657954G>A	ENST00000392899.1	+	1	928	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATAAAGAGGTGAAGGGGGCCT	0.433000													18	31					0	0	0.00152264	0	0
MYO3B	140469	broad.mit.edu	37	2	171259451	171259451	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:171259451C>T	ENST00000334231.6	+	19	2250	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.I741I|MYO3B_ENST00000409044.3_Silent_p.I741I			Q8WXR4	MYO3B_HUMAN	myosin IIIB	741	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATAAACATCGCCAATGAGC	0.408000													15	47					0	0	0.00244969	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348852	30348852	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:30348852G>A	ENST00000327564.7	+	1	829	c.768G>A	c.(766-768)atG>atA	p.M256I	LRRC37B_ENST00000543378.2_Missense_Mutation_p.M147I|LRRC37B_ENST00000394713.3_Missense_Mutation_p.M229I|LRRC37B_ENST00000341671.7_Missense_Mutation_p.M229I|LRRC37B_ENST00000584368.1_Missense_Mutation_p.M241I			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	229						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTTGAGTATGGACACACTGT	0.498000													45	25					0	0	0.000680045	0	0
DCC	1630	broad.mit.edu	37	18	50683833	50683833	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:50683833G>A	ENST00000442544.2	+	8	1985	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R	DCC_ENST00000581580.1_Missense_Mutation_p.G112R|DCC_ENST00000412726.1_Missense_Mutation_p.G305R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	457	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAAGCGAAAGGGAACATTCA	0.498000													26	41					0	0	0.000720815	0	0
LOXL2	4017	broad.mit.edu	37	8	23155621	23155621	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:23155621C>T	ENST00000389131.3	-	14	2629	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	754					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCCGTCTCTTCGCTGAAGGAA	0.557000													19	17					0	0	0.00152264	0	0
SRL	6345	broad.mit.edu	37	16	4242577	4242577	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:4242577G>A	ENST00000399609.3	-	6	1011	c.999C>T	c.(997-999)atC>atT	p.I333I	SRL_ENST00000537996.1_Silent_p.I291I	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	792	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CGTGCTGGCGGATGAAGGCAA	0.537000													46	88					0	0	0.000781405	0	0
BEST3	144453	broad.mit.edu	37	12	70087528	70087528	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:70087528G>A	ENST00000330891.5	-	4	633	c.407C>T	c.(406-408)tCc>tTc	p.S136F	BEST3_ENST00000266661.4_Missense_Mutation_p.S30F|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000551160.1_Missense_Mutation_p.S30F|BEST3_ENST00000393365.1_Missense_Mutation_p.S30F|BEST3_ENST00000331471.4_Missense_Mutation_p.S136F|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000553096.1_Missense_Mutation_p.S30F	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	136						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GATGAGCAGGGAGGTGAGATT	0.522000													55	35					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196661442	196661442	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:196661442A>G	ENST00000312428.6	-	56	10473	c.10373T>C	c.(10372-10374)cTt>cCt	p.L3458P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3458	AAA 6 (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						TAAAGAGCTAAGTTTTGATCC	0.348000													5	42					0	0	0.000602214	0	0
RRAS	6237	broad.mit.edu	37	19	50139924	50139924	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:50139924G>A	ENST00000246792.3	-	4	507	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	135					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		ACACAACGGGGAAGTCGTCGC	0.607000													9	25					0	0	0.000274275	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190197	119190197	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:119190197C>T	ENST00000295588.4	+	3	302	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	73						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GGAGGCATCTCCAGGAAGATG	0.502000													47	75					0	0	0.000781405	0	0
MED12	9968	broad.mit.edu	37	X	70356322	70356322	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:70356322G>A	ENST00000333646.6	+	37	5416	c.5217G>A	c.(5215-5217)ctG>ctA	p.L1739L	MED12_ENST00000374080.3_Silent_p.L1739L|MED12_ENST00000374102.1_Silent_p.L1739L|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1739	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTATTACCTGGAGCCACTGC	0.637000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	3					0	0	0.000442599	0	0
BSN	8927	broad.mit.edu	37	3	49692341	49692341	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49692341C>T	ENST00000296452.4	+	5	5466	c.5352C>T	c.(5350-5352)gcC>gcT	p.A1784A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1784					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCAGACAGCCCCATACCGAA	0.592000													22	10					0	0	0.00278032	0	0
HOXB5	3215	broad.mit.edu	37	17	46670776	46670776	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:46670776G>A	ENST00000239151.5	-	1	547	c.269C>T	c.(268-270)tCg>tTg	p.S90L	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	90						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGAGCAGCTCGAAGCCGCTTG	0.726000													12	1					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9091259	9091259	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9091259G>A	ENST00000397910.4	-	1	759	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	186	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P186S(2)		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						ATTTTTACAGGAATATATCTT	0.473000													29	22					0	0	0.00127121	0	0
PTPRU	10076	broad.mit.edu	37	1	29581881	29581881	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:29581881C>T	ENST00000373779.3	+	2	297	c.168C>T	c.(166-168)atC>atT	p.I56I	PTPRU_ENST00000345512.3_Silent_p.I56I|PTPRU_ENST00000460170.2_Silent_p.I56I|PTPRU_ENST00000428026.2_Silent_p.I56I|PTPRU_ENST00000356870.3_Silent_p.I56I|PTPRU_ENST00000323874.8_Silent_p.I56I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	56	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AAGTGCGAATCCACCCTGGCA	0.612000													19	38					0	0	0.00152264	0	0
NXPE1	120400	broad.mit.edu	37	11	114401507	114401507	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:114401507C>T	ENST00000536312.1	-	6	1115	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	NXPE1_ENST00000424269.1_Missense_Mutation_p.E75K|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		TCTATGATTTCCTTTATTCTG	0.463000													26	26					0	0	0.0024448	0	0
DUOX2	50506	broad.mit.edu	37	15	45398334	45398334	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:45398334C>T	ENST00000389039.6	-	17	2522	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K	DUOX2_ENST00000603300.1_Missense_Mutation_p.E713K			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	713					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	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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)		AGGTCATACTCCTTAGGGATC	0.597000													9	14					0	0	0.000274275	0	0
GRM7	2917	broad.mit.edu	37	3	7620951	7620951	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:7620951A>C	ENST00000486284.1	+	8	2632	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	GRM7_ENST00000403881.1_Missense_Mutation_p.E786D|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.E786D|GRM7_ENST00000357716.4_Missense_Mutation_p.E786D|GRM7_ENST00000402647.2_Missense_Mutation_p.E786D	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	786					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATTTTAACGAAGCCAAGCCCA	0.433000													4	24					0	0	0.000602214	0	0
TRIM46	80128	broad.mit.edu	37	1	155156512	155156512	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:155156512C>T	ENST00000368382.1	+	10	2194	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	TRIM46_ENST00000334634.4_Missense_Mutation_p.S709F|TRIM46_ENST00000545012.1_Missense_Mutation_p.S583F|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	709	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGCTGTTTCCTTCCGTGGG	0.662000													15	16					0	0	0.00074312	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062336	144062336	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:144062336C>T	ENST00000056217.5	+	2	2748	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	858					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCCAAAGTCCAGGGGGAGGA	0.587000													7	61					0	0	0.000274275	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166281	180166281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:180166281G>A	ENST00000307832.2	-	1	818	c.778C>T	c.(778-780)Caa>Taa	p.Q260*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGATGGATTGGAGATATGTG	0.423000													92	40					0	0	0.000781405	0	0
ACADS	35	broad.mit.edu	37	12	121176354	121176354	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:121176354C>T	ENST00000242592.4	+	7	965	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	ACADS_ENST00000411593.2_Missense_Mutation_p.R268C	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	272	Substrate binding.					mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGACATGGGCCGCATCGGCAT	0.706000													94	35					0	0	0.000781405	0	0
MSR1	4481	broad.mit.edu	37	8	16001079	16001079	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:16001079C>T	ENST00000350896.3	-	8	1218	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	MSR1_ENST00000536385.1_Missense_Mutation_p.G115R|MSR1_ENST00000381998.4_Missense_Mutation_p.G341R|MSR1_ENST00000445506.2_Missense_Mutation_p.G359R|MSR1_ENST00000262101.5_Missense_Mutation_p.G341R|MSR1_ENST00000355282.2_Missense_Mutation_p.G341R	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	404	Collagen-like.				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)		AATGTGTTTCCACTCCCCTTT	0.348000													19	37					0	0	0.00047179	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139036	64139036	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:64139036G>A	ENST00000545618.1	-	5	995	c.432C>T	c.(430-432)ccC>ccT	p.P144P	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.P126P|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.P149P			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	149							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGGATGGGGGGCTCCTGAG	0.562000													17	5					0	0	0.00121646	0	0
CTNNA2	1496	broad.mit.edu	37	2	80540772	80540772	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:80540772G>A	ENST00000343114.3	+	1	269	c.86G>A	c.(85-87)gGa>gAa	p.G29E	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACCATGTCTGGAGCACAGGTA	0.423000													10	7					0	0	0.000673444	0	0
OR10A4	283297	broad.mit.edu	37	11	6898405	6898405	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:6898405A>G	ENST00000379829.2	+	1	550	c.527A>G	c.(526-528)aAc>aGc	p.N176S		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACAGGGTGAACCACTTCTTC	0.522000													24	50					0	0	0.000878237	0	0
SLFN12	55106	broad.mit.edu	37	17	33738894	33738894	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:33738894G>A	ENST00000394562.1	-	6	1723	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	SLFN12_ENST00000452764.3_Silent_p.F400F|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Silent_p.F400F			Q8IYM2	SLN12_HUMAN	schlafen family member 12	400							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGTTGTAAGAACAGTTTTC	0.378000													49	31					0	0	0.000781405	0	0
USP16	10600	broad.mit.edu	37	21	30409680	30409680	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:30409680G>A	ENST00000334352.4	+	7	763	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	USP16_ENST00000399976.2_Missense_Mutation_p.E178K|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.E177K	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	178					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAAAAGAAGGAAAACATGGC	0.318000													24	27					0	0	0.00047179	0	0
DHX34	9704	broad.mit.edu	37	19	47858352	47858352	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:47858352C>T	ENST00000328771.4	+	3	1111	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	254	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGATTGTATTCCTGACAGTGG	0.582000													29	40					0	0	0.001512	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450741	114450741	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:114450741C>T	ENST00000369563.3	+	3	912	c.466C>T	c.(466-468)Cct>Tct	p.P156S	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	156					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		CCTGGTTCTTCCTTCCCGACA	0.463000								Other identified genes with known or suspected DNA repair function					30	66					0	0	0.00283554	0	0
SON	6651	broad.mit.edu	37	21	34927526	34927526	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:34927526C>T	ENST00000356577.4	+	3	6464	c.5989C>T	c.(5989-5991)Cgc>Tgc	p.R1997C	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.R1997C|SON_ENST00000300278.4_Missense_Mutation_p.R1997C|SON_ENST00000381679.4_Missense_Mutation_p.R1997C	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1997	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						caccccaagccgccgGAGAAG	0.642000													20	40					0	0	0.00152264	0	0
HERC1	8925	broad.mit.edu	37	15	63970335	63970335	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:63970335G>A	ENST00000443617.2	-	37	6866	c.6779C>T	c.(6778-6780)tCg>tTg	p.S2260L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2260					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCTCTGAACCGAGCGGCTTTT	0.428000													27	29					0	0	0.00127121	0	0
TTN	7273	broad.mit.edu	37	2	179428836	179428836	+	Silent	SNP	C	C	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179428836C>A	ENST00000589042.1	-	326	82247	c.82023G>T	c.(82021-82023)cgG>cgT	p.R27341R	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.R18276R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R25700R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.R18468R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R24773R|TTN_ENST00000359218.5_Silent_p.R18401R|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25700	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCATCAGTCCGTATACAGT	0.393000													86	144					7.61764e-41	3.41721e-40	0.000781405	1	0
FAM173B	134145	broad.mit.edu	37	5	10239213	10239213	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:10239213G>A	ENST00000511437.1	-	2	284	c.272C>T	c.(271-273)tCc>tTc	p.S91F	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.S91F	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	91						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTCCACAAGGGATCCTCTTCG	0.418000													55	89					0	0	0.000781405	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471884	39471884	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:39471884C>T	ENST00000334202.3	-	1	63	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	7						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTGAAGCAGTCCCCCGGGCAG	0.677000													13	5					0	0	0.00244969	0	0
PKP3	11187	broad.mit.edu	37	11	396968	396968	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:396968C>T	ENST00000331563.2	+	3	543	c.467C>T	c.(466-468)cCc>cTc	p.P156L	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	156					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACCCCTCCCATGCCCACC	0.716000													4	12					0	0	0.00024832	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14205243	14205243	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:14205243G>A	ENST00000360954.2	+	1	844	c.408G>A	c.(406-408)caG>caA	p.Q136Q		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	136					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GGAGCAAGCAGCTGCCGCAGG	0.697000													4	6					0	0	0.00024832	0	0
OR51B5	282763	broad.mit.edu	37	11	5364484	5364484	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:5364484C>T	ENST00000300773.2	-	1	325	c.271G>A	c.(271-273)Gga>Aga	p.G91R	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGCACTTCCAATCTCCCTG	0.552000													17	21					0	0	0.000422831	0	0
F9	2158	broad.mit.edu	37	X	138644029	138644029	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:138644029C>T	ENST00000218099.2	+	8	1192	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	F9_ENST00000394090.2_Silent_p.F357F	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	395	Peptidase S1.		F -> I (in HEMB).|F -> L (in HEMB).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.F395L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACAACATGTTCTGTGCTGGCT	0.443000													60	14					0	0	0.000781405	0	0
IL21	59067	broad.mit.edu	37	4	123533869	123533869	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:123533869G>A	ENST00000264497.3	-	5	542	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	155					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGATCCTCAGGAATCTTCACT	0.373000													10	26					0	0	0.000673444	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399653	47399653	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47399653G>A	ENST00000310638.4	-	9	1218	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.P397L|CYP4A11_ENST00000371905.1_Missense_Mutation_p.P396L|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	396					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAAGGTGACGGGAGTGCTGAG	0.582000													10	25					0	0	0.00136819	0	0
KRT24	192666	broad.mit.edu	37	17	38854792	38854792	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:38854792C>T	ENST00000264651.2	-	7	1528	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	491	Tail.					cytoplasm|intermediate filament	structural molecule activity	p.R491Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AAGTCTACCTCGTCCTTGACC	0.363000													69	55					0	0	0.000781405	0	0
ESYT2	57488	broad.mit.edu	37	7	158528282	158528282	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:158528282G>A	ENST00000251527.5	-	20	2563	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	ESYT2_ENST00000435514.2_Missense_Mutation_p.S268L	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	861	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCTGGTAACGAAACACTGAA	0.438000													30	51					0	0	0.00170553	0	0
STARD6	147323	broad.mit.edu	37	18	51855774	51855774	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:51855774G>A	ENST00000581310.1	-	8	795	c.422C>T	c.(421-423)tCa>tTa	p.S141L	STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.S141L			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	141	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GATATAATTTGAAGATGGAGG	0.323000													52	133					0	0	0.000781405	0	0
VCAN	1462	broad.mit.edu	37	5	82833328	82833328	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:82833328C>T	ENST00000265077.3	+	8	5071	c.4506C>T	c.(4504-4506)ccC>ccT	p.P1502P	VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.P515P|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1502	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATGTTTTCCCCACAGTCCCAT	0.438000													18	14					0	0	0.000958276	0	0
OLFML1	283298	broad.mit.edu	37	11	7530732	7530732	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:7530732G>A	ENST00000329293.3	+	3	916	c.522G>A	c.(520-522)aaG>aaA	p.K174K	OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.K174K	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	174	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACTCTCCAAAGGTGTACTTAT	0.423000													25	56					0	0	0.00106085	0	0
ZNF208	7757	broad.mit.edu	37	19	22171613	22171613	+	Silent	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:22171613T>C	ENST00000397126.4	-	2	250	c.102A>G	c.(100-102)ttA>ttG	p.L34L	ZNF208_ENST00000601773.1_Silent_p.L34L|ZNF208_ENST00000599916.1_Silent_p.L34L|ZNF208_ENST00000597040.1_Silent_p.L2L	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGTTCTCTAACATCACAT	0.413000													40	33					0	0	0.00222228	0	0
SCN11A	11280	broad.mit.edu	37	3	38950496	38950496	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:38950496C>T	ENST00000450244.1	-	9	1489	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E431K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E431K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E431K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	431					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACCTCCTTTTCCTCCTTTAAC	0.532000													40	23					0	0	0.00195071	0	0
PCED1B	91523	broad.mit.edu	37	12	47629855	47629855	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:47629855C>T	ENST00000546455.1	+	4	1740	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	PCED1B_ENST00000432328.1_Missense_Mutation_p.P337S					PC-esterase domain containing 1B																		CCCACAGGGTCCCCCAGATGC	0.582000													30	316					0	0	0.00058488	0	0
UBE4A	9354	broad.mit.edu	37	11	118255590	118255590	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:118255590C>T	ENST00000252108.3	+	15	2473	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	UBE4A_ENST00000431736.2_Missense_Mutation_p.P788L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P253L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	781					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCCATGAATCCCCCACTTTTC	0.368000													63	37					0	0	0.000781405	0	0
ADAM2	2515	broad.mit.edu	37	8	39624518	39624518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:39624518G>T	ENST00000265708.4	-	14	1459	c.1356C>A	c.(1354-1356)tgC>tgA	p.C452*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.C433*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.C452*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.C326*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398000													35	66					2.75727e-19	1.23341e-18	0.000953801	1	0
DNAH8	1769	broad.mit.edu	37	6	38854694	38854694	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:38854694G>A	ENST00000359357.3	+	55	7990	c.7736G>A	c.(7735-7737)cGa>cAa	p.R2579Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R2543Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R2796Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGTGGTCGAAATGATATT	0.373000													27	38					0	0	0.000720815	0	0
DNAH10	196385	broad.mit.edu	37	12	124268667	124268667	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:124268667C>T	ENST00000409039.3	+	8	1015	c.990C>T	c.(988-990)ttC>ttT	p.F330F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	330	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)		TATTCAAGTTCCACACGGAGG	0.488000													72	25					0	0	0.000781405	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965621	88965621	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:88965621C>T	ENST00000333190.4	+	4	3934	c.3325C>T	c.(3325-3327)Cat>Tat	p.H1109Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1109						intracellular	zinc ion binding	p.H1109Y(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCATATAAATCATGTAGAGGG	0.368000										HNSCC(36;0.09)			19	38					0	0	0.00121646	0	0
ABHD13	84945	broad.mit.edu	37	13	108882144	108882144	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:108882144C>T	ENST00000375898.3	+	2	879	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	193						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTGGCCGTTCCTTGGGTGGA	0.403000													30	55					0	0	0.00127121	0	0
ARID4A	5926	broad.mit.edu	37	14	58796780	58796780	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:58796780G>A	ENST00000355431.3	+	11	1172	c.799G>A	c.(799-801)Gat>Aat	p.D267N	ARID4A_ENST00000348476.3_Missense_Mutation_p.D267N|ARID4A_ENST00000431317.2_Missense_Mutation_p.D267N|ARID4A_ENST00000395168.3_Missense_Mutation_p.D267N	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	267					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGGAAAATGGATATAAGTGA	0.388000													45	29					0	0	0.00222228	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294860	42294860	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:42294860G>A	ENST00000342228.3	-	8	1539	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	SLC20A2_ENST00000520262.1_Silent_p.T390T|SLC20A2_ENST00000520179.1_Silent_p.T390T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	390					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAATGGCTGCGGTGTAGCAGG	0.607000													44	62					0	0	0.00285205	0	0
LRRN4	164312	broad.mit.edu	37	20	6022124	6022124	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:6022124C>T	ENST00000378858.4	-	5	1991	c.1767G>A	c.(1765-1767)acG>acA	p.T589T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	589	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGTGGTCTCCGTCACCCCCT	0.711000													20	32					0	0	0.00121646	0	0
CHRM2	1129	broad.mit.edu	37	7	136700475	136700475	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:136700475C>T	ENST00000445907.2	+	3	1391	c.863C>T	c.(862-864)tCa>tTa	p.S288L	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S288L|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.S288L|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S288L|CHRM2_ENST00000397608.3_Missense_Mutation_p.S288L|CHRM2_ENST00000402486.3_Missense_Mutation_p.S288L	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	288					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GACTCCACCTCAGTCAGTGCT	0.478000													29	42					0	0	0.00178596	0	0
STRADB	55437	broad.mit.edu	37	2	202343314	202343314	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:202343314C>T	ENST00000194530.3	+	10	1425	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	STRADB_ENST00000392249.2_Missense_Mutation_p.P354S	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	354	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GCAACAAGATCCTGAGAAAAG	0.363000													8	33					0	0	0.000274275	0	0
SALL1	6299	broad.mit.edu	37	16	51174411	51174411	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:51174411C>T	ENST00000440970.1	-	2	1862	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.E574E|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	574					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGGGCTGGCTCTTCCGTCT	0.612000													16	28					0	0	0.000566183	0	0
SACS	26278	broad.mit.edu	37	13	23909874	23909874	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:23909874G>A	ENST00000382298.3	-	10	8729	c.8141C>T	c.(8140-8142)tCg>tTg	p.S2714L	SACS_ENST00000402364.1_Missense_Mutation_p.S1964L|SACS_ENST00000382292.3_Missense_Mutation_p.S2714L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2714					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein 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)		TGGAACAGACGAAATTTCCGA	0.388000													25	56					0	0	0.000586117	0	0
C7	730	broad.mit.edu	37	5	40981538	40981538	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:40981538G>A	ENST00000313164.9	+	18	2754	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	799	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGAGTGCGAGGAAGAAGGGTT	0.522000													19	9					0	0	0.00188189	0	0
C9orf78	51759	broad.mit.edu	37	9	132595788	132595788	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:132595788G>A	ENST00000372447.3	-	4	257	c.204C>T	c.(202-204)ccC>ccT	p.P68P	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	68										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TCATCTGAAAGGGATCATCCT	0.398000													28	14					0	0	0.00209593	0	0
MIR517A	574479	broad.mit.edu	37	19	54215545	54215545	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:54215545G>A	ENST00000385001.1	+	0	24					NR_030201.1																						CCCTCTAGATGGAAGCACTGT	0.478000													20	49					0	0	0.00047179	0	0
TRIM22	10346	broad.mit.edu	37	11	5719671	5719671	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:5719671C>T	ENST00000379965.3	+	4	923	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	216					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GCTGGATAACCTGGCAGCAGC	0.527000													18	29					0	0	0.000566183	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)			47	81					0	0	0.000781405	0	0
MLIP	90523	broad.mit.edu	37	6	53989277	53989277	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:53989277T>A	ENST00000514921.1	+	3	339	c.226T>A	c.(226-228)Tcc>Acc	p.S76T	MLIP_ENST00000370877.2_Missense_Mutation_p.S24T|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.S24T|MLIP_ENST00000370876.2_Missense_Mutation_p.S14T|MLIP_ENST00000358276.5_Missense_Mutation_p.S70T|MLIP_ENST00000502396.1_Missense_Mutation_p.S87T|MLIP_ENST00000274897.5_Missense_Mutation_p.S76T			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	76						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGTCTAAATCCAATGACTA	0.368000													23	30					0	0	0.000586117	0	0
CASP5	838	broad.mit.edu	37	11	104877831	104877831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:104877831G>A	ENST00000393141.2	-	3	482	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	CASP5_ENST00000526056.1_Nonsense_Mutation_p.Q151*|CASP5_ENST00000444749.2_Nonsense_Mutation_p.Q80*|CASP5_ENST00000393139.2_Nonsense_Mutation_p.Q105*|CASP5_ENST00000260315.3_Nonsense_Mutation_p.Q138*|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	138					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTGATCTTTTGGTCCATATTG	0.388000													51	36					0	0	0.000781405	0	0
PVRIG	79037	broad.mit.edu	37	7	99818436	99818436	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:99818436G>A	ENST00000317271.2	+	5	1013	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	217						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGAGAGCACGAGCATGGGTG	0.677000													14	14					0	0	0.00185496	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906860	158906860	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:158906860G>A	ENST00000368140.1	+	2	405	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	PYHIN1_ENST00000392254.2_Missense_Mutation_p.E54K|PYHIN1_ENST00000392252.3_Missense_Mutation_p.E54K|PYHIN1_ENST00000368138.3_Missense_Mutation_p.E54K|PYHIN1_ENST00000368135.4_Missense_Mutation_p.E54K	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	54	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CTTGATGGAGGAAAAGTTCCC	0.348000													30	46					0	0	0.00127121	0	0
RTEL1	51750	broad.mit.edu	37	20	62328225	62328225	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:62328225C>T	ENST00000318100.4	+	36	4839	c.4012C>T	c.(4012-4014)Cta>Tta	p.L1338L	TNFRSF6B_ENST00000369996.1_Silent_p.T35T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1338L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	0					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)			AAACACCCACCTACCCCTGGC	0.726000													6	5					0	0	0.00198382	0	0
DNAH5	1767	broad.mit.edu	37	5	13717504	13717504	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:13717504G>A	ENST00000265104.4	-	73	12729	c.12625C>T	c.(12625-12627)Ccc>Tcc	p.P4209S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4209	AAA 6 (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)					AATTCGTAGGGGATATTCCAC	0.547000									Kartagener syndrome				18	18					0	0	0.00074312	0	0
ADAM18	8749	broad.mit.edu	37	8	39496021	39496021	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:39496021C>T	ENST00000265707.5	+	10	910	c.865C>T	c.(865-867)Cct>Tct	p.P289S	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P265S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	289	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P289S(1)|p.P289F(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGCAACATTTCCTGGCACTGT	0.274000													26	41					0	0	0.0024448	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370231	20370231	+	RNA	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:20370231C>T	ENST00000593655.1	-	0	199																											TCGATAAACTCCAAAGCTTGT	0.403000													6	12					0	0	0.00198382	0	0
XKR6	286046	broad.mit.edu	37	8	10756104	10756104	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:10756104G>A	ENST00000416569.2	-	3	1310	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	XKR6_ENST00000304437.2_Silent_p.F149F	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	428						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TAAACCAGCAGAAAATGTACA	0.483000													15	18					0	0	0.00244969	0	0
DNAH5	1767	broad.mit.edu	37	5	13753569	13753569	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:13753569C>T	ENST00000265104.4	-	63	10749	c.10645G>A	c.(10645-10647)Gaa>Aaa	p.E3549K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3549					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)					GCTTTCATTTCCTTCCGCCAG	0.403000									Kartagener syndrome				57	102					0	0	0.000781405	0	0
DEFB119	245932	broad.mit.edu	37	20	29965177	29965177	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:29965177C>T	ENST00000376321.3	-	2	246	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	43					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433000													52	87					0	0	0.000781405	0	0
FLG2	388698	broad.mit.edu	37	1	152325386	152325386	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152325386C>T	ENST00000388718.5	-	3	4948	c.4876G>A	c.(4876-4878)Gat>Aat	p.D1626N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1626							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTGGTATCTCCTATCTGT	0.507000													101	133					0	0	0.000781405	0	0
HECW2	57520	broad.mit.edu	37	2	197184087	197184087	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:197184087C>T	ENST00000260983.2	-	9	1709	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	HECW2_ENST00000409111.1_Silent_p.E153E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	509					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAGGGTTGTCCTCCAGCTTTG	0.517000													12	28					0	0	0.000978159	0	0
RALGPS2	55103	broad.mit.edu	37	1	178846662	178846662	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:178846662G>A	ENST00000367635.3	+	9	975	c.637G>A	c.(637-639)Gat>Aat	p.D213N	RALGPS2_ENST00000367634.2_Missense_Mutation_p.D213N|RALGPS2_ENST00000324778.4_Missense_Mutation_p.D178N	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	213	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.D213Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AACATACATCGATTCAGCATA	0.338000													14	51					0	0	0.000566183	0	0
SLC20A2	6575	broad.mit.edu	37	8	42297144	42297144	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:42297144G>A	ENST00000342228.3	-	7	1127	c.758C>T	c.(757-759)tCa>tTa	p.S253L	SLC20A2_ENST00000520262.1_Missense_Mutation_p.S253L|SLC20A2_ENST00000520179.1_Missense_Mutation_p.S253L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	253					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGATACTCGTGATAAAGCACC	0.393000													26	44					0	0	0.001512	0	0
FCGBP	8857	broad.mit.edu	37	19	40433743	40433743	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:40433743C>T	ENST00000221347.6	-	2	533	c.526G>A	c.(526-528)Ggg>Agg	p.G176R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	176	IgGFc-binding.					extracellular region	protein binding	p.G176W(1)		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)			GTCACTGACCCCTTCAGCGTG	0.567000													19	40					0	0	0.00229938	0	0
PLCB4	5332	broad.mit.edu	37	20	9434089	9434089	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:9434089G>A	ENST00000378501.2	+	29	2955	c.2940G>A	c.(2938-2940)gaG>gaA	p.E980E	PLCB4_ENST00000378493.1_Silent_p.E980E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.E992E|PLCB4_ENST00000334005.3_Silent_p.E980E|PLCB4_ENST00000278655.4_Silent_p.E980E|PLCB4_ENST00000414679.2_Silent_p.E992E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	980					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATCCTAGAGAAGGCAATGA	0.388000													19	23					0	0	0.00121646	0	0
PRDM9	56979	broad.mit.edu	37	5	23526576	23526576	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:23526576C>T	ENST00000296682.3	+	11	1561	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAAAGGTCCAAACTCTTG	0.468000										HNSCC(3;0.000094)			4	28					0	0	0.00024832	0	0
TRPM7	54822	broad.mit.edu	37	15	50925153	50925153	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50925153G>A	ENST00000313478.7	-	9	1325	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	TRPM7_ENST00000560955.1_Silent_p.S348S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	348					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTTGATAGTGGAAATAATAT	0.343000													21	43					0	0	0.00152264	0	0
USP50	373509	broad.mit.edu	37	15	50830987	50830987	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50830987G>A	ENST00000532404.1	-	5	895	c.722C>T	c.(721-723)tCc>tTc	p.S241F	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	241					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TTCACAAAAGGAGCAGTGAAT	0.373000													24	23					0	0	0.000720815	0	0
C8A	731	broad.mit.edu	37	1	57349331	57349331	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:57349331G>A	ENST00000361249.3	+	6	928	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	278	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATTCTTGAACGAATTAAACAA	0.403000													17	31					0	0	0.000566183	0	0
MROH2B	133558	broad.mit.edu	37	5	41049436	41049436	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:41049436T>A	ENST00000399564.4	-	14	1897	c.1447A>T	c.(1447-1449)Aag>Tag	p.K483*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.K38*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCTGCTTCTTCTCCTCTGCC	0.458000													10	42					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179474029	179474029	+	Silent	SNP	G	G	A	rs144507270	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179474029G>A	ENST00000589042.1	-	273	52232	c.52008C>T	c.(52006-52008)gtC>gtT	p.V17336V	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.V8271V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V15695V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.V8463V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V14768V|TTN_ENST00000359218.5_Silent_p.V8396V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15695	Fibronectin type-III 25.						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)			GAGAATCTCGGACGCGTAGCT	0.453000													11	25					0	0	0.000978159	0	0
PEG3	5178	broad.mit.edu	37	19	57328178	57328178	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:57328178G>A	ENST00000326441.9	-	10	1995	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.F420F|PEG3_ENST00000593695.1_Silent_p.F418F|PEG3_ENST00000423103.2_Silent_p.F544F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	544					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTAGGCATGAAGGCTTCCT	0.453000													48	81					0	0	0.000781405	0	0
HYDIN	54768	broad.mit.edu	37	16	70954536	70954536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:70954536C>T	ENST00000393567.2	-	46	7893	c.7743G>A	c.(7741-7743)tgG>tgA	p.W2581*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2581										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGCCTGCTTCCAGCTCAAGC	0.587000													8	9					0	0	0.000442599	0	0
KIF6	221458	broad.mit.edu	37	6	39563951	39563951	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:39563951C>T	ENST00000287152.7	-	7	819	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	KIF6_ENST00000538893.1_Missense_Mutation_p.R242Q|KIF6_ENST00000373215.3_Missense_Mutation_p.R242Q|KIF6_ENST00000373216.3_Missense_Mutation_p.R242Q|KIF6_ENST00000373213.4_Missense_Mutation_p.R81Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	242	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTGGCATGTCGTACAGTTGC	0.463000													16	33					0	0	0.000422831	0	0
CA6	765	broad.mit.edu	37	1	9017341	9017341	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:9017341C>T	ENST00000377443.2	+	3	409	c.405C>T	c.(403-405)atC>atT	p.I135I	CA6_ENST00000377442.2_Silent_p.I75I|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Silent_p.I135I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	135					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GACATGTGATCGAGGTACCTG	0.507000													22	24					0	0	0.000720815	0	0
TMEM62	80021	broad.mit.edu	37	15	43446960	43446960	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:43446960C>T	ENST00000260403.2	+	9	1392	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	371						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGTCTGGTCCCATTTTCGTAC	0.378000													12	22					0	0	0.000978159	0	0
PSG2	5670	broad.mit.edu	37	19	43579720	43579720	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:43579720C>T	ENST00000406487.1	-	3	593	c.495G>A	c.(493-495)gtG>gtA	p.V165V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	165	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGGTTAAGATCACAGTTTCCA	0.522000													65	110					0	0	0.000781405	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868587	112868587	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:112868587C>T	ENST00000161863.4	+	5	900	c.687C>T	c.(685-687)ttC>ttT	p.F229F	YTHDC2_ENST00000515883.1_Silent_p.F229F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	229	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTCCTCAGTTCCTTTTAGATG	0.363000													45	15					0	0	0.000781405	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462696	50462696	+	Silent	SNP	G	G	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:50462696G>T	ENST00000447370.2	-	5	1068	c.978C>A	c.(976-978)gcC>gcA	p.A326A	SIGLEC11_ENST00000426971.2_Silent_p.A326A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	326	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTGAATCCCCGGCCCTTACCC	0.682000													15	26					4.7546e-09	2.115e-08	0.000422831	1	0
MCF2L2	23101	broad.mit.edu	37	3	183017899	183017899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:183017899G>A	ENST00000328913.3	-	11	1496	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P400L|MCF2L2_ENST00000447025.2_Missense_Mutation_p.P400L|MCF2L2_ENST00000414362.2_Missense_Mutation_p.P400L	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	400					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CACACACCGGGGCCTGATGGC	0.512000													12	38					0	0	0.00136819	0	0
IARS2	55699	broad.mit.edu	37	1	220311351	220311351	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:220311351C>T	ENST00000366922.1	+	17	2256	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	IARS2_ENST00000302637.5_Missense_Mutation_p.S714F			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	714					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATTGGCCCATCCGTGCTCAAT	0.408000													28	69					0	0	0.000878237	0	0
NRAP	4892	broad.mit.edu	37	10	115400007	115400007	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:115400007C>T	ENST00000369358.4	-	14	1651	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	NRAP_ENST00000359988.3_Missense_Mutation_p.M469I|NRAP_ENST00000369360.3_Missense_Mutation_p.M434I|NRAP_ENST00000360478.3_Missense_Mutation_p.M434I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	469						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCACCAGTTTCATAGCTGTTT	0.418000													42	23					0	0	0.000680045	0	0
FLG	2312	broad.mit.edu	37	1	152281693	152281693	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152281693G>A	ENST00000368799.1	-	3	5704	c.5669C>T	c.(5668-5670)tCt>tTt	p.S1890F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1890	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)			GTCGGCCCGAGAGGAAGCTTC	0.577000									Ichthyosis				95	206					0	0	0.000781405	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895246	45895246	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:45895246G>A	ENST00000418234.2	-	8	1785	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	PPP1R13L_ENST00000360957.5_Silent_p.I569I	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	569	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATCCCTCAGTGATGGGGGACA	0.697000													14	18					0	0	0.000422831	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128838851	128838851	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:128838851G>A	ENST00000310343.9	-	22	6214	c.6215C>T	c.(6214-6216)cCc>cTc	p.P2072L	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1723L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1723L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2072	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAACTCTGCGGGCAGGAAGGC	0.582000													7	6					0	0	0.000274275	0	0
PTPRC	5788	broad.mit.edu	37	1	198725200	198725200	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:198725200C>T	ENST00000367376.2	+	33	3976	c.3805C>T	c.(3805-3807)Ctc>Ttc	p.L1269F	PTPRC_ENST00000352140.3_Missense_Mutation_p.L1221F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L1108F|PTPRC_ENST00000442510.2_Missense_Mutation_p.L1271F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L1110F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1269					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAGAAAAGCTCCCTGAAGC	0.433000													23	58					0	0	0.00229938	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333640	47333640	+	RNA	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47333640C>T	ENST00000505841.1	-	0	1048					NR_002788.2																						AGACCCATCCCCTAGGAGTTC	0.423000													4	9					0	0	0.000602214	0	0
BRD8	10902	broad.mit.edu	37	5	137486557	137486557	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:137486557C>T	ENST00000254900.5	-	22	3368	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	999					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAGCTGAAAGCTCTTCAGTCT	0.488000													40	21					0	0	0.00170553	0	0
TERF2IP	54386	broad.mit.edu	37	16	75688173	75688173	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:75688173C>T	ENST00000300086.4	+	2	770	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	225	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TTTAACAGAACCACAGAATAA	0.418000													31	62					0	0	0.00283554	0	0
MUC16	94025	broad.mit.edu	37	19	9061109	9061109	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9061109C>T	ENST00000397910.4	-	3	26540	c.26337G>A	c.(26335-26337)acG>acA	p.T8779T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8781	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATCCTGTCGTGGTGAGGG	0.507000													33	18					0	0	0.00111076	0	0
ADAM29	11086	broad.mit.edu	37	4	175897197	175897197	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:175897197G>A	ENST00000359240.3	+	5	1191	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	ADAM29_ENST00000514159.1_Missense_Mutation_p.R174Q|ADAM29_ENST00000445694.1_Missense_Mutation_p.R174Q|ADAM29_ENST00000404450.4_Missense_Mutation_p.R174Q	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	174					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATAACATGCCGAATGGAATTT	0.363000													25	55					0	0	0.000720815	0	0
C11orf16	56673	broad.mit.edu	37	11	8942945	8942945	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:8942945G>A	ENST00000326053.5	-	6	1428	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	441										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CGGGGTCCGCGGTGGCTTCAT	0.517000													28	43					0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179529579	179529579	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179529579C>T	ENST00000589042.1	-	166	36342	c.36118_splice	c.e166+1	p.V12040_splice	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10188							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)			TGACTTGTACCTTTAACTGAT	0.378000													11	8					0	0	0.00185496	0	0
PTGER3	5733	broad.mit.edu	37	1	71418656	71418656	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:71418656T>G	ENST00000356595.4	-	4	1401	c.1191A>C	c.(1189-1191)gaA>gaC	p.E397D	PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCTCCATTTCTTCTCTGTTCA	0.413000													7	132					0	0	0.000157383	0	0
CASC1	55259	broad.mit.edu	37	12	25311484	25311484	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:25311484C>T	ENST00000354189.5	-	4	329	c.294G>A	c.(292-294)ttG>ttA	p.L98L	CASC1_ENST00000395987.3_Silent_p.L40L|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000320267.9_Silent_p.L34L|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000557684.1_5'UTR	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	34										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTCATATTTCAAACGGGCTT	0.294000													32	48					0	0	0.00209593	0	0
SOX10	6663	broad.mit.edu	37	22	38379572	38379572	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:38379572C>T	ENST00000396884.2	-	2	502	c.220G>A	c.(220-222)Gag>Aag	p.E74K	SOX10_ENST00000470555.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.E74K|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	74						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTGACGGCCTCGCGGATGCAC	0.697000													4	6					0	0	0.000602214	0	0
HERC2	8924	broad.mit.edu	37	15	28408299	28408299	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:28408299C>T	ENST00000261609.7	-	69	10795	c.10687G>A	c.(10687-10689)Gac>Aac	p.D3563N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3563					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCCCCTGTCCCCGGCCCGG	0.642000													17	41					0	0	0.000566183	0	0
SGCZ	137868	broad.mit.edu	37	8	14412253	14412253	+	Missense_Mutation	SNP	C	C	T	rs77000161		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:14412253C>T	ENST00000382080.1	-	2	937	c.222G>A	c.(220-222)atG>atA	p.M74I	SGCZ_ENST00000421524.2_Missense_Mutation_p.M61I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	61					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGTGAAATTCATAACTTTCA	0.328000													16	48					0	0	0.000308642	0	0
FLG2	388698	broad.mit.edu	37	1	152326202	152326202	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152326202C>T	ENST00000388718.5	-	3	4132	c.4060G>A	c.(4060-4062)Gaa>Aaa	p.E1354K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1354							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGCACTTCACTGTCAGTG	0.483000													35	104					0	0	0.00283554	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985158	157985158	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:157985158C>T	ENST00000389413.3	-	5	513	c.410G>A	c.(409-411)aGg>aAg	p.R137K	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R160K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R99K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R120K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R137K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	137						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTGTACCTCCTCTCGCTGCC	0.632000													25	40					0	0	0.0024448	0	0
NFASC	23114	broad.mit.edu	37	1	204948166	204948166	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:204948166C>T	ENST00000367172.4	+	18	2275	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	NFASC_ENST00000360049.4_Silent_p.I645I|NFASC_ENST00000404907.1_Silent_p.I645I|NFASC_ENST00000338515.6_Silent_p.I649I|NFASC_ENST00000513543.1_Silent_p.I645I|NFASC_ENST00000338586.6_Silent_p.I649I|NFASC_ENST00000367169.4_Silent_p.I649I|NFASC_ENST00000539706.1_Silent_p.I645I|NFASC_ENST00000339876.6_Silent_p.I649I|NFASC_ENST00000404076.1_Silent_p.I628I|NFASC_ENST00000367171.4_Silent_p.I634I|NFASC_ENST00000367170.4_Silent_p.I649I|NFASC_ENST00000401399.1_Silent_p.I649I			O94856	NFASC_HUMAN	neurofascin	649	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGACCTGGATCCCCGGGGATG	0.647000													3	3					0	0	0.00024832	0	0
OR1E1	8387	broad.mit.edu	37	17	3301220	3301220	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:3301220A>C	ENST00000322608.2	-	1	484	c.485T>G	c.(484-486)cTc>cGc	p.L162R		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						CCTGGCCATGAGTAAAGTGTG	0.532000													5	15					0	0	0.000602214	0	0
DPPA3	359787	broad.mit.edu	37	12	7868018	7868018	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:7868018C>T	ENST00000345088.2	+	2	439	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	108						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGGCGGAGTTCGTACGGTATG	0.483000													12	39					0	0	0.00136819	0	0
CDH4	1002	broad.mit.edu	37	20	60498655	60498655	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:60498655C>T	ENST00000360469.5	+	10	1609	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	CDH4_ENST00000543233.1_Silent_p.F433F	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	507	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTCCCTACTTCCCCTCAAACC	0.627000													6	7					0	0	0.00116845	0	0
OR6A2	8590	broad.mit.edu	37	11	6816325	6816325	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:6816325G>A	ENST00000332601.3	-	1	803	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCCAGGATGAAATCTGTAA	0.493000													42	92					0	0	0.000680045	0	0
DHX34	9704	broad.mit.edu	37	19	47856776	47856776	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:47856776C>T	ENST00000328771.4	+	2	838	c.489C>T	c.(487-489)ccC>ccT	p.P163P		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	163						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCCCTCCCCATCGCCCAGT	0.647000													21	36					0	0	0.00278032	0	0
CDH10	1008	broad.mit.edu	37	5	24505343	24505343	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:24505343C>T	ENST00000264463.4	-	8	1778	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	424	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCAGTATGGCGATCCAAGGA	0.368000										HNSCC(23;0.051)			25	35					0	0	0.000720815	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940176	68940176	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:68940176C>T	ENST00000433211.1	-	7	1120	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D316N|CTNNA3_ENST00000545309.1_Missense_Mutation_p.D316N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	316					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATGAAGAATCCGCCAGCAGA	0.483000													27	16					0	0	0.000878237	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117614	31117614	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:31117614G>A	ENST00000304166.4	+	4	455	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G56R|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G56R|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G56R	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	56					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGGCTGTCCTGGGATGTGGGA	0.572000													16	25					0	0	0.000422831	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854848	67854848	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:67854848G>A	ENST00000388833.3	+	3	469	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R85Q|TSNAXIP1_ENST00000562321.1_Intron	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	31					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R31L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACCGGAAGCGAGTAGGGTAA	0.597000													26	54					0	0	0.00127121	0	0
DNAH11	8701	broad.mit.edu	37	7	21827122	21827122	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:21827122A>T	ENST00000328843.6	+	61	9897	c.9866A>T	c.(9865-9867)aAt>aTt	p.N3289I	DNAH11_ENST00000409508.3_Missense_Mutation_p.N3282I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3289	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAGAGTTTAATCCAAACCTG	0.373000									Kartagener syndrome				29	39					0	0	0.000878237	0	0
GPX6	257202	broad.mit.edu	37	6	28478531	28478531	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:28478531G>A	ENST00000361902.1	-	2	287	c.238C>T	c.(238-240)Cct>Tct	p.P80S	GPX6_ENST00000474923.1_Missense_Mutation_p.P80S|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	80					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCTTACCAGGATACTGAGCT	0.473000													20	34					0	0	0.000958276	0	0
SYT10	341359	broad.mit.edu	37	12	33559882	33559882	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:33559882C>T	ENST00000228567.3	-	3	1215	c.919G>A	c.(919-921)Gat>Aat	p.D307N	SYT10_ENST00000535526.1_Missense_Mutation_p.D126N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	307	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTAGTTGATCATATGCTACA	0.343000													23	37					0	0	0.00229938	0	0
COL11A2	1302	broad.mit.edu	37	6	33156784	33156784	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:33156784G>A	ENST00000341947.2	-	3	641	c.414C>T	c.(412-414)gtC>gtT	p.V138V	COL11A2_ENST00000357486.1_Silent_p.V138V|COL11A2_ENST00000395194.1_Silent_p.V138V|COL11A2_ENST00000361917.1_Silent_p.V138V|COL11A2_ENST00000374714.1_Silent_p.V138V|COL11A2_ENST00000374713.1_Silent_p.V138V|COL11A2_ENST00000395197.1_Silent_p.V138V|COL11A2_ENST00000374708.4_Silent_p.V138V|COL11A2_ENST00000374712.1_Silent_p.V138V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	138	TSP N-terminal.				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						GGCCTCGGAAGACTGGCTGAG	0.612000													33	102					0	0	0.00128727	0	0
OR2L3	391192	broad.mit.edu	37	1	248224841	248224841	+	Silent	SNP	C	C	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248224841C>G	ENST00000359959.3	+	1	858	c.858C>G	c.(856-858)ccC>ccG	p.P286P	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P286P(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTCAACCCCATCATCTATA	0.488000													6	66					0	0	0.00116845	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494276	21494276	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:21494276G>A	ENST00000377142.4	-	1	388	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	11					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.S11L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCCTTGACCGAAAACCCCGT	0.567000													27	43					0	0	0.00283554	0	0
PROKR1	10887	broad.mit.edu	37	2	68873196	68873196	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:68873196C>T	ENST00000303786.3	+	2	663	c.243C>T	c.(241-243)ttC>ttT	p.F81F	PROKR1_ENST00000394342.2_Silent_p.F81F			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	81						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TTGGAAACTTCATCTTTATCG	0.532000													37	85					0	0	0.00148497	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603558	140603558	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:140603558G>A	ENST00000239449.4	+	1	481	c.481G>A	c.(481-483)Gat>Aat	p.D161N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D8N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		161	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGATTTGGATGTCGGAAG	0.398000													31	10					0	0	0.000692331	0	0
IGSF1	3547	broad.mit.edu	37	X	130408600	130408600	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:130408600C>T	ENST00000370904.1	-	24	4607	c.3697G>A	c.(3697-3699)Gat>Aat	p.D1233N	IGSF1_ENST00000361420.3_Missense_Mutation_p.D1242N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1247N|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1233N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1242	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						TCCAGGGGATCACTAGGCTCT	0.542000													51	20					0	0	0.000781405	0	0
KNTC1	9735	broad.mit.edu	37	12	123089491	123089491	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:123089491C>G	ENST00000333479.7	+	50	5420	c.5243C>G	c.(5242-5244)aCa>aGa	p.T1748R	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.T173R	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1748					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CGATCGGGCACAGAAGCTGTG	0.433000													8	3					0	0	0.000157383	0	0
WDR34	89891	broad.mit.edu	37	9	131398016	131398016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:131398016C>T	ENST00000372715.2	-	5	794	c.734G>A	c.(733-735)tGg>tAg	p.W245*	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	245						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						GCTCAGGTCCCACACCAACAC	0.672000													5	0					0	0	0.000602214	0	0
ZAP70	7535	broad.mit.edu	37	2	98354284	98354284	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:98354284T>C	ENST00000264972.5	+	12	1762	c.1547T>C	c.(1546-1548)tTc>tCc	p.F516S	ZAP70_ENST00000451498.2_Missense_Mutation_p.F209S|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.F390S	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	516	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTCCGCAAGTTCTCCAGCCGC	0.642000													33	60					0	0	0.00111076	0	0
KMT2B	9757	broad.mit.edu	37	19	36223280	36223280	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36223280C>T	ENST00000420124.1	+	28	5830	c.5830C>T	c.(5830-5832)Cct>Tct	p.P1944S	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P1944S																							GGTGCCCCCTCCTACCTCAGT	0.672000													8	9					0	0	0.000274275	0	0
TIAM1	7074	broad.mit.edu	37	21	32493137	32493137	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:32493137G>A	ENST00000286827.3	-	29	4796	c.4325C>T	c.(4324-4326)tCt>tTt	p.S1442F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1382F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1442					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCCCAAGAGACTTGCTTGG	0.522000													6	14					0	0	0.00116845	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45244853	45244853	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:45244853C>T	ENST00000517296.3	+	15	1420	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P395S|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P386S|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.P295S|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.P474S|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.P264S|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P264S					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CATTCACATCCCTGCCGTGAT	0.617000													40	75					0	0	0.00285205	0	0
LUZP1	7798	broad.mit.edu	37	1	23418816	23418816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:23418816G>A	ENST00000302291.4	-	4	2740	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R647*|LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R647*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R647*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	647						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGATGACTCGACACCTCAAG	0.463000													77	94					0	0	0.000781405	0	0
SMOC1	64093	broad.mit.edu	37	14	70461195	70461195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:70461195C>T	ENST00000381280.4	+	7	915	c.662C>T	c.(661-663)tCa>tTa	p.S221L	SMOC1_ENST00000361956.3_Missense_Mutation_p.S221L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	221					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATAAGAAATTCAGGTAAATAA	0.413000													7	67					0	0	0.000157383	0	0
ZBED1	9189	broad.mit.edu	37	X	2406967	2406967	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:2406967G>A	ENST00000381223.4	-	2	1997	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.F598F|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Silent_p.F598F	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	598						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGCAGGGGGAAGAGGGCCA	0.647000													38	35					0	0	0.00111076	0	0
ZFP64	55734	broad.mit.edu	37	20	50769429	50769429	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:50769429G>A	ENST00000216923.4	-	6	1651	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.F380F|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.F432F|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCCCGCATGAAGGAGGCAT	0.572000													15	33					0	0	0.00244969	0	0
HFM1	164045	broad.mit.edu	37	1	91843722	91843722	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:91843722C>T	ENST00000370425.3	-	11	1353	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	HFM1_ENST00000370424.3_Missense_Mutation_p.E98K|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	419	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCACGATTTTCATCTTTTACA	0.289000													18	34					0	0	0.00188189	0	0
RDX	5962	broad.mit.edu	37	11	110134696	110134696	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:110134696G>A	ENST00000343115.4	-	5	775	c.456C>T	c.(454-456)ctC>ctT	p.L152L	RDX_ENST00000528498.1_Silent_p.L152L|RDX_ENST00000544551.1_Intron|RDX_ENST00000405097.1_Silent_p.L152L|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Silent_p.L120L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	152	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCTGGGGTAGGAGTCTATCAT	0.363000													16	13					0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179411964	179411964	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179411964C>T	ENST00000589042.1	-	340	94512	c.94288G>A	c.(94288-94290)Gaa>Aaa	p.E31430K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22365K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29789K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22557K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28862K|TTN_ENST00000359218.5_Missense_Mutation_p.E22490K|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29789	Fibronectin type-III 129.						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)			TAGGGTTCTTCCCAACGAATA	0.423000													63	85					0	0	0.000781405	0	0
PSG1	5669	broad.mit.edu	37	19	43382238	43382238	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:43382238C>T	ENST00000244296.2	-	2	394	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PSG1_ENST00000312439.6_Missense_Mutation_p.G86D|PSG1_ENST00000403380.3_Missense_Mutation_p.G86D|PSG1_ENST00000436291.2_Missense_Mutation_p.G86D|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.G86D|PSG1_ENST00000595124.1_Missense_Mutation_p.G86D	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AATTATTTCACCGTCTACTAC	0.458000													98	193					0	0	0.000781405	0	0
CSF2RB	1439	broad.mit.edu	37	22	37329990	37329990	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:37329990G>A	ENST00000262825.5	+	10	1504	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	CSF2RB_ENST00000406230.1_Silent_p.G429G|CSF2RB_ENST00000536485.1_Silent_p.G370G|CSF2RB_ENST00000403662.3_Silent_p.G423G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	423	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCTACAACGGGATCTGGAGCG	0.657000													18	28					0	0	0.00121646	0	0
FMN2	56776	broad.mit.edu	37	1	240371478	240371478	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:240371478C>T	ENST00000319653.9	+	5	3596	c.3366C>T	c.(3364-3366)ccC>ccT	p.P1122P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1122	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			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)			CCCCTCCTCCCCCTCTACCCG	0.721000													8	6					0	0	0.00136819	0	0
RSRC1	51319	broad.mit.edu	37	3	158261266	158261266	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:158261266C>T	ENST00000464171.1	+	8	853	c.728C>T	c.(727-729)gCc>gTc	p.A243V	RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000295930.3_Missense_Mutation_p.A301V|RSRC1_ENST00000480820.1_Missense_Mutation_p.A301V|RSRC1_ENST00000312179.6_Missense_Mutation_p.A243V	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	301					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AATTCCCTGGCCCATCCAAAT	0.398000													19	68					0	0	0.000720815	0	0
PCED1B	91523	broad.mit.edu	37	12	47629854	47629854	+	Silent	SNP	T	T	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:47629854T>A	ENST00000546455.1	+	4	1739	c.1008T>A	c.(1006-1008)ggT>ggA	p.G336G	PCED1B_ENST00000432328.1_Silent_p.G336G					PC-esterase domain containing 1B																		TCCCACAGGGTCCCCCAGATG	0.582000													29	312					0	0	0.00283554	0	0
RRP15	51018	broad.mit.edu	37	1	218475769	218475769	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:218475769C>T	ENST00000366932.3	+	2	303	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	91						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTAATATGGGCTGGGCAGATG	0.408000													14	41					0	0	0.00244969	0	0
PRSS1	5644	broad.mit.edu	37	7	142458429	142458429	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:142458429G>A	ENST00000486171.1	+	2	81	c.64G>A	c.(64-66)Gac>Aac	p.D22N	PRSS1_ENST00000311737.7_Missense_Mutation_p.D22N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	22			D -> G (in PCTT; increased rate of activation).		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)			TGATGATGATGACAAGATCGT	0.532000													19	136					0	0	0.000878237	0	0
OLFML1	283298	broad.mit.edu	37	11	7530733	7530733	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:7530733G>A	ENST00000329293.3	+	3	917	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.V175M	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	175	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTCTCCAAAGGTGTACTTATT	0.418000													25	57					0	0	0.00106085	0	0
OR4N2	390429	broad.mit.edu	37	14	20296196	20296196	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:20296196C>T	ENST00000315947.1	+	1	589	c.589C>T	c.(589-591)Ctt>Ttt	p.L197F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGTGGAGCTTCTGATGGT	0.532000													23	51					0	0	0.00188189	0	0
PCLO	27445	broad.mit.edu	37	7	82453723	82453723	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:82453723C>T	ENST00000423517.2	-	19	14762	c.14425G>A	c.(14425-14427)Gat>Aat	p.D4809N	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.D4809N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4671					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGATAAATCAATCAATACC	0.328000													23	38					0	0	0.00047179	0	0
WWP1	11059	broad.mit.edu	37	8	87439898	87439898	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:87439898G>A	ENST00000517970.1	+	11	1491	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	WWP1_ENST00000349423.2_Missense_Mutation_p.R177K|WWP1_ENST00000341922.2_Missense_Mutation_p.R265K|WWP1_ENST00000265428.4_Missense_Mutation_p.R395K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	395	WW 2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GATGATCGTAGAAGAGTTTAT	0.373000													23	51					0	0	0.000586117	0	0
PDE6A	5145	broad.mit.edu	37	5	149324129	149324129	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:149324129G>A	ENST00000255266.5	-	1	227	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	36					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGCCCCAAGGAGGTCGGAGA	0.557000													25	9					0	0	0.000586117	0	0
PTPRB	5787	broad.mit.edu	37	12	70990070	70990070	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:70990070C>T	ENST00000334414.6	-	5	1061	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	PTPRB_ENST00000451516.2_Silent_p.E121E|PTPRB_ENST00000550857.1_Silent_p.E121E|PTPRB_ENST00000551525.1_Silent_p.E338E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Silent_p.E121E|PTPRB_ENST00000538708.1_Silent_p.E121E|PTPRB_ENST00000550358.1_Silent_p.E339E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	121	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGTCGTCTTCTCTTTACTGA	0.373000													30	14					0	0	0.00106085	0	0
C20orf26	26074	broad.mit.edu	37	20	20051576	20051576	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:20051576C>T	ENST00000245957.5	+	3	298	c.222C>T	c.(220-222)ccC>ccT	p.P74P	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.P74P|C20orf26_ENST00000451767.2_Silent_p.P74P	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	74			P -> R (in dbSNP:rs17852602).							NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGGACTACCCCAACTGGAATG	0.502000													18	38					0	0	0.00074312	0	0
KCTD14	65987	broad.mit.edu	37	11	77728170	77728170	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:77728170G>A	ENST00000353172.5	-	2	281	c.237C>T	c.(235-237)atC>atT	p.I79I	NDUFC2-KCTD14_ENST00000528251.1_3'UTR|KCTD14_ENST00000533144.1_Silent_p.I49I|NDUFC2-KCTD14_ENST00000530054.1_3'UTR	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	79	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGGGGCGGTCGATGAAGAAGC	0.597000													8	32					0	0	0.000157383	0	0
MYO5C	55930	broad.mit.edu	37	15	52497127	52497127	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:52497127C>T	ENST00000261839.7	-	38	4916	c.4755G>A	c.(4753-4755)gcG>gcA	p.A1585A	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1585	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCAGCGTGACCGCCCCGATCA	0.577000													7	15					0	0	0.00198382	0	0
TM6SF1	53346	broad.mit.edu	37	15	83791524	83791524	+	Missense_Mutation	SNP	G	G	A	rs142876988		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:83791524G>A	ENST00000322019.9	+	6	771	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	TM6SF1_ENST00000565774.1_Missense_Mutation_p.R166Q|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Missense_Mutation_p.R169Q			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	166						integral to membrane		p.R166Q(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TATGGAACACGAATTTGCCCT	0.368000													27	43					0	0	0.00127121	0	0
ACOT11	26027	broad.mit.edu	37	1	55072900	55072900	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:55072900C>T	ENST00000371316.3	+	14	1546	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.F488F	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	488	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCAGGACTTCGTGATCCTGG	0.627000													8	22					0	0	0.000442599	0	0
DSP	1832	broad.mit.edu	37	6	7569418	7569418	+	Splice_Site	SNP	G	G	A	rs34543842		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:7569418G>A	ENST00000379802.3	+	12	1760		c.e12-1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCCTTACAGAAAATCGTGC	0.448000													38	49					0	0	0.00285205	0	0
MROH9	80133	broad.mit.edu	37	1	170961410	170961410	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:170961410G>A	ENST00000367759.4	+	12	1288	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	MROH9_ENST00000367758.3_Silent_p.E378E	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GGGAAATGGAGGACACCGTAA	0.468000													23	54					0	0	0.000586117	0	0
SBF1	6305	broad.mit.edu	37	22	50894685	50894685	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:50894685G>A	ENST00000380817.2	-	31	4409	c.4226C>T	c.(4225-4227)tCc>tTc	p.S1409F	SBF1_ENST00000348911.6_Missense_Mutation_p.S1384F|SBF1_ENST00000390679.3_Missense_Mutation_p.S1383F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1383	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCAGGAAGGAGGCTGGGCT	0.637000													4	15					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179517007	179517007	+	Silent	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179517007T>C	ENST00000589042.1	-	203	39419	c.39195A>G	c.(39193-39195)gaA>gaG	p.E13065E	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E11558E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.E10631E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11416							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)			TGGGTGGCACTTCAGGCTTTT	0.378000													30	251					0	0	0.00283554	0	0
SUCO	51430	broad.mit.edu	37	1	172501640	172501640	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:172501640C>T	ENST00000367723.3	+	1	152	c.28C>T	c.(28-30)Cta>Tta	p.L10L		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ACGCCCCTTTCTATCTACCAA	0.502000													19	20					0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13737541	13737541	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:13737541C>T	ENST00000265104.4	-	66	11379	c.11275G>A	c.(11275-11277)Gaa>Aaa	p.E3759K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3759	AAA 5 (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)					TCTTCTAGTTCCTTCATCCTT	0.383000									Kartagener syndrome				44	54					0	0	0.00222228	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80972384	80972384	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:80972384C>T	ENST00000320865.3	-	5	367	c.354G>A	c.(352-354)atG>atA	p.M118I	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	118							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCTGGGGCATCATGACGTCAT	0.493000													31	53					0	0	0.000692331	0	0
CECR1	51816	broad.mit.edu	37	22	17684584	17684584	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:17684584C>T	ENST00000399839.1	-	4	892	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CECR1_ENST00000399837.2_Missense_Mutation_p.E208K|CECR1_ENST00000449907.2_Missense_Mutation_p.E166K|CECR1_ENST00000262607.3_Missense_Mutation_p.E208K			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	208	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAGATGGTTTCAAATTTCGAC	0.488000													6	44					0	0	0.00116845	0	0
CDH18	1016	broad.mit.edu	37	5	19591191	19591191	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:19591191C>T	ENST00000507958.1	-	9	1964	c.974G>A	c.(973-975)aGa>aAa	p.R325K	CDH18_ENST00000511273.1_Missense_Mutation_p.R325K|CDH18_ENST00000382275.1_Missense_Mutation_p.R325K|CDH18_ENST00000502796.1_Missense_Mutation_p.R325K|CDH18_ENST00000274170.4_Missense_Mutation_p.R325K|CDH18_ENST00000506372.1_Missense_Mutation_p.R325K			Q13634	CAD18_HUMAN	cadherin 18, type 2	325	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATTCCTTCTCTGGTCTCTTT	0.403000													29	43					0	0	0.00178596	0	0
HYDIN	54768	broad.mit.edu	37	16	70841964	70841964	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:70841964G>A	ENST00000393567.2	-	86	15035	c.14883_splice	c.e86-1	p.T4962_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4962										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTACAGTCGGTCTGAAAGGG	0.542000													16	45					0	0	0.00121646	0	0
COL5A2	1290	broad.mit.edu	37	2	189927735	189927735	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:189927735C>T	ENST00000374866.3	-	28	2198		c.e28+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGTATATTTACCCTCTGCCCA	0.368000													37	67					0	0	0.00128727	0	0
HEATR2	54919	broad.mit.edu	37	7	796514	796514	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:796514C>T	ENST00000297440.6	+	6	1373	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	HEATR2_ENST00000313147.5_Silent_p.S451S	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	451							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCTCTGCCTCCGGCCTCCTGG	0.642000													32	42					0	0	0.000814825	0	0
MERTK	10461	broad.mit.edu	37	2	112755015	112755015	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:112755015C>T	ENST00000295408.4	+	10	1823	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	MERTK_ENST00000409780.1_Silent_p.S346S|MERTK_ENST00000421804.2_Silent_p.S522S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	522					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TATACATCTCCTTGGCCATCA	0.448000													19	41					0	0	0.00074312	0	0
LGALS4	3960	broad.mit.edu	37	19	39293023	39293023	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:39293023G>A	ENST00000307751.4	-	8	1069	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	198	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCTCCTTGCAGCCTCCCGAAA	0.522000													67	43					0	0	0.000781405	0	0
NEURL4	84461	broad.mit.edu	37	17	7230508	7230508	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:7230508G>A	ENST00000399464.2	-	3	784	c.769C>T	c.(769-771)Cct>Tct	p.P257S	NEURL4_ENST00000570460.1_Intron|NEURL4_ENST00000315614.7_Missense_Mutation_p.P257S	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGCTGTTAGGAAACGTCTCC	0.627000													9	8					0	0	0.000673444	0	0
GPR123	84435	broad.mit.edu	37	10	134898530	134898530	+	Missense_Mutation	SNP	G	G	A	rs138358765	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:134898530G>A	ENST00000607359.1	+	8	1592	c.1592G>A	c.(1591-1593)cGa>cAa	p.R531Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAATCCGGGCGATACGTGGTG	0.512000													33	18					0	0	0.00128727	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111306	95111306	+	RNA	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:95111306C>T	ENST00000469935.1	+	0	1126					NR_015340.1																						AACTCGATTTCCACTTCCCCA	0.542000													4	37					0	0	0.00116845	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113461	123113461	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:123113461C>T	ENST00000264501.4	+	11	1352	c.979C>T	c.(979-981)Cca>Tca	p.P327S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P327S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P327S			Q2LD37	K1109_HUMAN	KIAA1109	327					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						AGACTTGCCTCCATGTTGGGG	0.373000													25	39					0	0	0.00047179	0	0
PTPRT	11122	broad.mit.edu	37	20	40739014	40739014	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:40739014G>A	ENST00000373198.3	-	24	3514	c.3279C>T	c.(3277-3279)ttC>ttT	p.F1093F	PTPRT_ENST00000373193.3_Silent_p.F1074F|PTPRT_ENST00000373187.1_Silent_p.F1071F|PTPRT_ENST00000373201.1_Silent_p.F1061F|PTPRT_ENST00000373184.1_Silent_p.F1081F|PTPRT_ENST00000356100.2_Silent_p.F1080F|PTPRT_ENST00000373190.1_Silent_p.F1070F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1071	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGGGTTGAGGAACTTGACCT	0.627000													17	27					0	0	0.00074312	0	0
IL1R2	7850	broad.mit.edu	37	2	102638686	102638686	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:102638686C>T	ENST00000332549.3	+	6	955	c.726C>T	c.(724-726)ccC>ccT	p.P242P	IL1R2_ENST00000393414.2_Silent_p.P242P|IL1R2_ENST00000441002.1_Silent_p.P242P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	242	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCATTTCCCCCCTCAAGACCA	0.498000													40	110					0	0	0.00195071	0	0
MUC16	94025	broad.mit.edu	37	19	9076887	9076887	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9076887G>A	ENST00000397910.4	-	3	10762	c.10559C>T	c.(10558-10560)tCa>tTa	p.S3520L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3521	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCAGGAGATGAAGTCTGAGA	0.507000													44	40					0	0	0.00285205	0	0
NOTCH2	4853	broad.mit.edu	37	1	120506229	120506229	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:120506229C>T	ENST00000256646.2	-	11	2102	c.1883G>A	c.(1882-1884)gGc>gAc	p.G628D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	628	EGF-like 16; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		GCACTGGTAGCCATTGACCAG	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				100	192					0	0	0.000781405	0	0
KCNK5	8645	broad.mit.edu	37	6	39159497	39159497	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:39159497G>A	ENST00000359534.3	-	5	1007	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	223					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGAAGTAGCGGTACAGGGCGT	0.562000													19	53					0	0	0.00278032	0	0
CTAGE5	4253	broad.mit.edu	37	14	39818088	39818088	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:39818088T>C	ENST00000553728.1	+	27	3973	c.3760T>C	c.(3760-3762)Ttc>Ctc	p.F1254L	CTAGE5_ENST00000341749.3_Missense_Mutation_p.F707L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F719L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F690L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F639L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.F719L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F724L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F690L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F644L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000348007.3_Missense_Mutation_p.F676L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F690L																							AGGACCTCCTTTCCCCCCACC	0.537000													9	94					0	0	0.000442599	0	0
ECT2	1894	broad.mit.edu	37	3	172473144	172473144	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:172473144G>A	ENST00000417960.1	+	4	664	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	ECT2_ENST00000441497.2_Missense_Mutation_p.E64K|ECT2_ENST00000540509.1_Missense_Mutation_p.E64K|ECT2_ENST00000427830.1_Missense_Mutation_p.E64K|ECT2_ENST00000232458.5_Missense_Mutation_p.E64K|ECT2_ENST00000392692.3_Missense_Mutation_p.E64K	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	64					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAACAAGAAGAACTTATAAA	0.294000													21	32					0	0	0.00229938	0	0
PPL	5493	broad.mit.edu	37	16	4949107	4949107	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:4949107C>T	ENST00000345988.2	-	8	872	c.783G>A	c.(781-783)cgG>cgA	p.R261R	PPL_ENST00000590782.2_Silent_p.R259R	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	261					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTCCAGGTTCCGGTTGATGA	0.637000													23	44					0	0	0.00047179	0	0
IKZF1	10320	broad.mit.edu	37	7	50459562	50459562	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:50459562G>A	ENST00000331340.3	+	7	1005		c.e7+1		IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Splice_Site|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Splice_Site|IKZF1_ENST00000343574.5_Splice_Site|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000438033.1_Splice_Site|IKZF1_ENST00000359197.5_Splice_Site	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)						cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(27)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AAATTTCTTGGTAAGAGTTAA	0.398000			"""D,T"""	BCL6	"""ALL, DLBCL"""								8	7					0	0	0.000157383	0	0
OR4D5	219875	broad.mit.edu	37	11	123810407	123810407	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:123810407C>T	ENST00000307033.2	+	1	158	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		TTGTTTTCTTCACTGTTTTCT	0.453000													44	18					0	0	0.0025221	0	0
GPX5	2880	broad.mit.edu	37	6	28500198	28500198	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:28500198G>A	ENST00000412168.2	+	4	548		c.e4+1		GPX5_ENST00000469384.1_Splice_Site|GPX5_ENST00000442674.2_Splice_Site	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)						lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TTTCTTGAAGGTGAGTAAATT	0.453000													9	23					0	0	0.000442599	0	0
MYH4	4622	broad.mit.edu	37	17	10362699	10362699	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:10362699C>T	ENST00000255381.2	-	15	1566	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	486	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCAGTTTCTCGTTGGTGAAG	0.433000													34	24					0	0	0.00128727	0	0
EVPL	2125	broad.mit.edu	37	17	74003217	74003217	+	Silent	SNP	G	G	A	rs144079186		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:74003217G>A	ENST00000301607.3	-	22	6322	c.6069C>T	c.(6067-6069)tcC>tcT	p.S2023S	EVPL_ENST00000586740.1_Silent_p.S2045S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	2023	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGGGAGGCGGAGCGGTAGC	0.682000													10	26					0	0	0.000442599	0	0
HYAL1	3373	broad.mit.edu	37	3	50339712	50339712	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:50339712G>A	ENST00000266031.4	-	1	1291	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	HYAL1_ENST00000395144.2_Missense_Mutation_p.R226C|HYAL1_ENST00000320295.8_Missense_Mutation_p.R226C|HYAL1_ENST00000395143.2_Missense_Mutation_p.R226C|HYAL1_ENST00000457214.2_Missense_Mutation_p.R44C|HYAL1_ENST00000447605.2_Intron			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	226						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	TTTTGGGCACGGATGCCTGAT	0.602000													10	6					0	0	0.00136819	0	0
OR2L8	391190	broad.mit.edu	37	1	248112734	248112734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248112734G>A	ENST00000357191.3	+	1	575	c.575G>A	c.(574-576)tGg>tAg	p.W192*	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGGACACCTGGGTCTATGAG	0.468000													8	18					0	0	0.00185496	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533216	47533216	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47533216C>T	ENST00000334194.3	+	1	57	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	18						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGCTGCTGATCCTCCTCTGCA	0.562000													10	20					0	0	0.00185496	0	0
ETV6	2120	broad.mit.edu	37	12	12022505	12022505	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:12022505C>T	ENST00000396373.4	+	5	885	c.611C>T	c.(610-612)cCc>cTc	p.P204L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	204						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTCCGGTCCCCCCTGGACAAC	0.632000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								40	70					0	0	0.0025221	0	0
BRD1	23774	broad.mit.edu	37	22	50169268	50169268	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:50169268G>A	ENST00000216267.8	-	11	3450	c.2964C>T	c.(2962-2964)ctC>ctT	p.L988L	BRD1_ENST00000404760.1_Silent_p.L1119L|BRD1_ENST00000404034.1_Silent_p.L988L|BRD1_ENST00000342989.5_Silent_p.L714L|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Silent_p.L676L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	988	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAAAGAGAACGAGGAACAGCT	0.587000													68	97					0	0	0.000781405	0	0
ART5	116969	broad.mit.edu	37	11	3661430	3661430	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:3661430C>T	ENST00000397068.3	-	2	621	c.229G>A	c.(229-231)Gac>Aac	p.D77N	ART5_ENST00000359918.4_Missense_Mutation_p.D77N|ART5_ENST00000397067.3_Missense_Mutation_p.D77N	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	77						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)		CGACGCTTGTCCTCCCAGGTC	0.577000													18	19					0	0	0.00121646	0	0
PCIF1	63935	broad.mit.edu	37	20	44569573	44569573	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:44569573C>T	ENST00000372409.3	+	6	877	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	171						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCCTACGACCCACTGAGTGAG	0.602000													15	21					0	0	0.00244969	0	0
OR2T3	343173	broad.mit.edu	37	1	248637188	248637188	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248637188C>T	ENST00000359594.2	+	1	562	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAGGAAAATCCTGAGTTTTT	0.522000													40	59					0	0	0.00285205	0	0
STAB2	55576	broad.mit.edu	37	12	104109615	104109615	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:104109615C>T	ENST00000388887.2	+	43	4764	c.4560C>T	c.(4558-4560)aaC>aaT	p.N1520N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1520	EGF-like 13.				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						GTTTGGAGAACCATGGTGGCT	0.502000													29	19					0	0	0.00209593	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925386	67925386	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:67925386C>T	ENST00000304363.4	-	11	2780	c.2427G>A	c.(2425-2427)ttG>ttA	p.L809L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTCGAGACTCCAAGAGAGAAA	0.443000													66	118					0	0	0.000781405	0	0
NLRP8	126205	broad.mit.edu	37	19	56499263	56499263	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:56499263C>T	ENST00000291971.3	+	10	3202	c.3131C>T	c.(3130-3132)tCc>tTc	p.S1044F	NLRP8_ENST00000590542.1_Missense_Mutation_p.S1025F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1044						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTGCCTATCCCAGATTAAT	0.502000													18	35					0	0	0.000958276	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338145	42338145	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:42338145C>T	ENST00000262418.6	-	5	362	c.207G>A	c.(205-207)aaG>aaA	p.K69K	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	69					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTCCTGGTTCTTTTCGTCCA	0.617000													15	8					0	0	0.00074312	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270746	1270746	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:1270746G>A	ENST00000348261.5	+	35	7062	c.6814G>A	c.(6814-6816)Gac>Aac	p.D2272N	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D2266N|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D2266N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2272					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGAGCCGCTGGACCTCGGGGT	0.677000													13	10					0	0	0.00244969	0	0
LRRN1	57633	broad.mit.edu	37	3	3886446	3886446	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:3886446C>T	ENST00000319331.3	+	2	882	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	41	LRRNT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATGTGAAATTCGTCCCTGGTT	0.458000													33	19					0	0	0.00283554	0	0
GPR111	222611	broad.mit.edu	37	6	47654739	47654739	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:47654739C>T	ENST00000398742.2	+	6	1924	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	GPR115_ENST00000371220.1_Intron			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTTCTTCATCCTAGTGTTTG	0.358000													30	81					0	0	0.00111076	0	0
ANKRD36	375248	broad.mit.edu	37	2	97849224	97849224	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:97849224G>A	ENST00000420699.2	+	27	2110	c.1866_splice	c.e27+1	p.K622_splice	ANKRD36_ENST00000461153.2_Splice_Site_p.K622_splice	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	622										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGCCTGGAAGGTAGTTACTC	0.279000													3	7					0	0	0.000602214	0	0
ZNF711	7552	broad.mit.edu	37	X	84526624	84526624	+	Silent	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:84526624A>G	ENST00000360700.4	+	10	3100	c.2214A>G	c.(2212-2214)aaA>aaG	p.K738K	ZNF711_ENST00000395402.1_Silent_p.K700K|ZNF711_ENST00000276123.3_Silent_p.K692K|ZNF711_ENST00000373165.3_Silent_p.K692K|ZNF711_ENST00000542798.1_Silent_p.K534K			Q9Y462	ZN711_HUMAN	zinc finger protein 711	692					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATGAGCTAAAAAAACATATGA	0.358000													11	34					0	0	0.000673444	0	0
MCPH1	79648	broad.mit.edu	37	8	6302358	6302358	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:6302358A>G	ENST00000344683.5	+	8	1191	c.1115A>G	c.(1114-1116)aAg>aGg	p.K372R	MCPH1_ENST00000519480.1_Missense_Mutation_p.K372R|MCPH1_ENST00000522905.1_Missense_Mutation_p.K324R	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	372						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAAATGCAAGAGAAAGAGG	0.522000													7	37					0	0	0.00198382	0	0
ADAM19	8728	broad.mit.edu	37	5	156918648	156918648	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:156918648G>A	ENST00000257527.4	-	18	2148	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	ADAM19_ENST00000394020.1_Silent_p.I692I|ADAM19_ENST00000517905.1_Silent_p.I690I|ADAM19_ENST00000430702.2_Silent_p.I423I	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	690					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCCACTGTCGATACTGCCCC	0.637000													6	4					0	0	0.00198382	0	0
NWD1	284434	broad.mit.edu	37	19	16860679	16860679	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:16860679C>T	ENST00000524140.2	+	6	1644	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	NWD1_ENST00000552788.1_Missense_Mutation_p.A409V|NWD1_ENST00000549814.1_Missense_Mutation_p.A409V|NWD1_ENST00000523826.1_Missense_Mutation_p.A203V|NWD1_ENST00000379808.3_Missense_Mutation_p.A409V|NWD1_ENST00000339803.6_Missense_Mutation_p.A274V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	409	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTTCTGGACGCCCACACCAGG	0.582000													16	11					0	0	0.00074312	0	0
FBLN2	2199	broad.mit.edu	37	3	13679197	13679197	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:13679197C>T	ENST00000404922.3	+	18	3593	c.3474C>T	c.(3472-3474)gcC>gcT	p.A1158A	FBLN2_ENST00000535798.1_Silent_p.A1137A|FBLN2_ENST00000492059.1_Silent_p.A1158A|FBLN2_ENST00000295760.7_Silent_p.A1111A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1111	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCGCCAGCCTTCACGGGGG	0.622000													4	8					0	0	0.000602214	0	0
LRRC6	23639	broad.mit.edu	37	8	133595957	133595957	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:133595957C>T	ENST00000519595.1	-	11	1308	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	LRRC6_ENST00000518642.1_Missense_Mutation_p.E401K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E404K			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	404						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGTTTGTTCTCTGCTCCTG	0.403000													22	42					0	0	0.00047179	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839446	27839446	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:27839446A>G	ENST00000356790.2	+	3	268	c.23A>G	c.(22-24)aAa>aGa	p.K8R		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	8										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CAGAAGAGTAAACTCCGTGCC	0.527000													13	9					0	0	0.00185496	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868809	89868809	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:89868809G>A	ENST00000534061.1	+	2	395	c.165G>A	c.(163-165)atG>atA	p.M55I	NAALAD2_ENST00000525171.1_Missense_Mutation_p.M55I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.M55I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.M55I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	55					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TATCCGAAATGAAAGCTGAAA	0.328000													31	47					0	0	0.000692331	0	0
NPHS1	4868	broad.mit.edu	37	19	36330412	36330412	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36330412C>T	ENST00000378910.5	-	21	2912	c.2913G>A	c.(2911-2913)caG>caA	p.Q971Q	NPHS1_ENST00000353632.6_Silent_p.Q971Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	971	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCAGAACCTCTGTGGCAGGC	0.592000													37	40					0	0	0.000781405	0	0
PCNT	5116	broad.mit.edu	37	21	47831878	47831878	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:47831878C>T	ENST00000359568.5	+	28	5998	c.5891C>T	c.(5890-5892)gCc>gTc	p.A1964V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1964					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGCCCGGGGCCCACCCACAG	0.697000													5	11					0	0	0.000602214	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372240	34372240	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:34372240C>T	ENST00000297625.7	-	2	825	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	234					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGATGGCGGCCGCGCGCGAAG	0.652000													3	4					0	0	0.00024832	0	0
DAGLA	747	broad.mit.edu	37	11	61511889	61511889	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:61511889C>T	ENST00000257215.5	+	20	3173	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	1019					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.I1019I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGACAAGATCCGGACTTCTA	0.662000													17	22					0	0	0.00074312	0	0
COL8A1	1295	broad.mit.edu	37	3	99513711	99513711	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:99513711G>A	ENST00000261037.3	+	5	1346	c.966G>A	c.(964-966)ggG>ggA	p.G322G	COL8A1_ENST00000273342.4_Silent_p.G322G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	322	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCCAGGATGGGATCCCAGGCC	0.632000													9	23					0	0	0.000274275	0	0
MUC5B	727897	broad.mit.edu	37	11	1252739	1252739	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:1252739C>T	ENST00000447027.1	+	14	1694	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F	MUC5B_ENST00000529681.1_Missense_Mutation_p.L543F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	543	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTGGTGCCACTCATGCAGGT	0.667000													3	5					0	0	6.4e-05	0	0
DHRS3	9249	broad.mit.edu	37	1	12628406	12628406	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:12628406G>A	ENST00000376223.2	-	6	1255	c.872C>T	c.(871-873)aCc>aTc	p.T291I		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	291					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GCAGGTGTAGGTTCCTGAGAA	0.527000													40	58					0	0	0.000781405	0	0
CEP350	9857	broad.mit.edu	37	1	179989945	179989945	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:179989945A>T	ENST00000367607.3	+	12	3454	c.3036A>T	c.(3034-3036)ttA>ttT	p.L1012F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1012						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGAAATTTTAAAAGAAAAGG	0.408000													27	62					0	0	0.000720815	0	0
CCDC60	160777	broad.mit.edu	37	12	119961610	119961610	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:119961610G>A	ENST00000327554.2	+	11	1681	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	406										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)		GGACAAGATGGAAATCCTCAT	0.493000													26	8					0	0	0.000720815	0	0
PIK3R5	23533	broad.mit.edu	37	17	8790475	8790475	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:8790475C>T	ENST00000447110.1	-	12	1967	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	PIK3R5_ENST00000581552.1_Missense_Mutation_p.D615N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.D615N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	615					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TACCAGGGGTCCAGCATGCCG	0.612000													17	12					0	0	0.00074312	0	0
AGAP1	116987	broad.mit.edu	37	2	237028969	237028969	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:237028969C>T	ENST00000409538.1	+	16	3380	c.2884C>T	c.(2884-2886)Ctg>Ttg	p.L962L	AGAP1_ENST00000336665.5_Silent_p.L697L|AGAP1_ENST00000304032.7_Silent_p.L750L|AGAP1_ENST00000428334.2_Silent_p.L589L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	750					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GACGGCCATCCTGCTGCTGGC	0.716000													22	22					0	0	0.000586117	0	0
ITGAD	3681	broad.mit.edu	37	16	31435519	31435519	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:31435519G>A	ENST00000389202.2	+	28	3305	c.3256G>A	c.(3256-3258)Gct>Act	p.A1086T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1086					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATTTATGAGAGCTCAGGTAGA	0.562000													16	21					0	0	0.000422831	0	0
USP8	9101	broad.mit.edu	37	15	50741605	50741605	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50741605C>T	ENST00000433963.1	+	5	758	c.258C>T	c.(256-258)ttC>ttT	p.F86F	USP8_ENST00000396444.3_Silent_p.F86F|USP8_ENST00000307179.4_Silent_p.F86F|USP8_ENST00000425032.3_Intron	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	86	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGGATTATTTCCATTCAATAC	0.318000													12	17					0	0	0.00185496	0	0
PCDH20	64881	broad.mit.edu	37	13	61987393	61987393	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:61987393C>T	ENST00000409186.1	-	5	2944	c.839G>A	c.(838-840)aGg>aAg	p.R280K	PCDH20_ENST00000409204.4_Missense_Mutation_p.R280K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	253	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGGGTTTCCCTGTCCAAAGC	0.522000													20	25					0	0	0.000958276	0	0
KDM3A	55818	broad.mit.edu	37	2	86711263	86711263	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:86711263G>T	ENST00000409556.1	+	20	3441	c.3076G>T	c.(3076-3078)Gga>Tga	p.G1026*	KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G1026*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G974*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G1026*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1026					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTTCTGGGATGGATTTGAAGA	0.453000													25	22					1.96895e-08	8.7463e-08	0.00278032	1	0
SLC12A9	56996	broad.mit.edu	37	7	100460418	100460418	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100460418G>A	ENST00000354161.3	+	13	1952	c.1827G>A	c.(1825-1827)ggG>ggA	p.G609G	SLC12A9_ENST00000540482.1_Silent_p.G609G|SLC12A9_ENST00000415287.1_Silent_p.G520G|SLC12A9_ENST00000275729.3_Silent_p.G520G|SLC12A9_ENST00000428758.1_Silent_p.G609G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	609						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCGCCAGGGGGCTCAGCATC	0.637000													20	52					0	0	0.00278032	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739492	205739492	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:205739492G>A	ENST00000367139.3	-	6	893	c.590C>T	c.(589-591)tCc>tTc	p.S197F	RAB7L1_ENST00000235932.4_Missense_Mutation_p.S197F|RAB7L1_ENST00000437324.2_Missense_Mutation_p.S125F|RAB7L1_ENST00000446390.2_Missense_Mutation_p.S173F|RAB7L1_ENST00000414729.1_Missense_Mutation_p.S197F|RAB7L1_ENST00000468887.1_5'UTR	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	197					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGCTGGAGGACTTGGTTTG	0.433000													9	33					0	0	0.000673444	0	0
WDR72	256764	broad.mit.edu	37	15	53991959	53991959	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:53991959C>T	ENST00000396328.1	-	13	1992	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	WDR72_ENST00000557913.1_Missense_Mutation_p.E582K|WDR72_ENST00000559418.1_Missense_Mutation_p.E595K|WDR72_ENST00000360509.5_Missense_Mutation_p.E585K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	585										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTTCAATTTCCCAGATATAA	0.373000													43	93					0	0	0.000680045	0	0
CLCN7	1186	broad.mit.edu	37	16	1507738	1507738	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:1507738G>A	ENST00000382745.4	-	8	1300	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	232						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607000													12	36					0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179596099	179596099	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179596099C>T	ENST00000589042.1	-	59	17618	c.17394G>A	c.(17392-17394)ggG>ggA	p.G5798G	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G5481G|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G4554G|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5481	Ig-like 39.						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)			AGACATATTTCCCATCATGCT	0.408000													76	164					0	0	0.000781405	0	0
IGSF9	57549	broad.mit.edu	37	1	159904045	159904045	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:159904045G>A	ENST00000368094.1	-	9	1236	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	IGSF9_ENST00000361509.3_Missense_Mutation_p.R331C	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	347	Ig-like 4.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGTTGGCACGAACCGGGCAG	0.622000													6	15					0	0	0.000157383	0	0
POTEC	388468	broad.mit.edu	37	18	14542999	14542999	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:14542999G>A	ENST00000358970.5	-	1	146	c.147C>T	c.(145-147)caC>caT	p.H49H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	49										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTCGTCGTGGTCTCCAG	0.587000													16	194					0	0	0.00188189	0	0
CACNG7	59284	broad.mit.edu	37	19	54418697	54418697	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:54418697G>A	ENST00000391767.1	+	4	574	c.362G>A	c.(361-363)gGc>gAc	p.G121D	CACNG7_ENST00000222212.2_Missense_Mutation_p.G121D|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.G121D			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	121					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGCAACATCGGCCACATCCGC	0.597000													23	25					0	0	0.000586117	0	0
MARK3	4140	broad.mit.edu	37	14	103932026	103932026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:103932026C>T	ENST00000429436.2	+	8	1183	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	MARK3_ENST00000440884.3_Intron|MARK3_ENST00000303622.9_Nonsense_Mutation_p.Q225*|MARK3_ENST00000216288.7_Nonsense_Mutation_p.Q225*|MARK3_ENST00000416682.2_Nonsense_Mutation_p.Q248*|MARK3_ENST00000335102.5_Nonsense_Mutation_p.Q248*|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000553942.1_Nonsense_Mutation_p.Q225*	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	225	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TGAGCTCTTCCAGGGCAAGAA	0.468000													8	93					0	0	0.000442599	0	0
BRINP2	57795	broad.mit.edu	37	1	177250635	177250635	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:177250635G>A	ENST00000361539.4	+	8	2635	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		775						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAACCCTGTGGAATATGAGAC	0.542000													39	58					0	0	0.000680045	0	0
BCL10	8915	broad.mit.edu	37	1	85742019	85742019	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:85742019G>T	ENST00000370580.1	-	1	754	c.17C>A	c.(16-18)cCg>cAg	p.P6Q		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	6					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GGTGAGGGACGGTGCGGTGGG	0.726000			T	IGH@	MALT								4	37					0.00116845	0.00516158	0.00116845	1	0
LUZP2	338645	broad.mit.edu	37	11	24936070	24936070	+	Missense_Mutation	SNP	G	G	A	rs138759346	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:24936070G>A	ENST00000533227.1	+	7	537	c.250G>A	c.(250-252)Gat>Aat	p.D84N	LUZP2_ENST00000336930.6_Missense_Mutation_p.D170N	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	170						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGGGAAGAAGGATTTATTATT	0.313000													8	27					0	0	0.000978159	0	0
EPHX1	2052	broad.mit.edu	37	1	226019506	226019506	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:226019506C>T	ENST00000366837.4	+	3	406	c.210C>T	c.(208-210)ttC>ttT	p.F70F	EPHX1_ENST00000272167.5_Silent_p.F70F|EPHX1_ENST00000467015.1_3'UTR	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	70					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCGATAAGTTCCGTTTCACCC	0.488000													25	51					0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179431857	179431857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179431857C>T	ENST00000589042.1	-	326	79226	c.79002G>A	c.(79000-79002)tgG>tgA	p.W26334*	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W17269*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W24693*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W17461*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W23766*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W17394*|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24693	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W23764*(1)|p.W23766*(1)|p.W17394*(1)|p.W17269*(1)|p.W17461*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAACAGTCCAGGCAAGTC	0.398000													37	73					0	0	0.000814825	0	0
MUC16	94025	broad.mit.edu	37	19	9069754	9069754	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9069754G>A	ENST00000397910.4	-	3	17895	c.17692C>T	c.(17692-17694)Cca>Tca	p.P5898S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5900	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGAGTGTGGAAATCTCTGA	0.517000													34	20					0	0	0.000692331	0	0
OR13C4	138804	broad.mit.edu	37	9	107289416	107289416	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:107289416G>A	ENST00000277216.3	-	1	74	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CAAAGAAAATGATCTCAAGTT	0.418000													26	9					0	0	0.000586117	0	0
SLIT2	9353	broad.mit.edu	37	4	20598263	20598263	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:20598263G>A	ENST00000504154.1	+	32	3798	c.3546G>A	c.(3544-3546)acG>acA	p.T1182T	SLIT2_ENST00000503837.1_Silent_p.T1178T|SLIT2_ENST00000503823.1_Silent_p.T1174T|SLIT2_ENST00000273739.5_Silent_p.T1195T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1182	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCCTCAGACGAACATAACAC	0.383000													19	25					0	0	0.00152264	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518396	113518396	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:113518396G>A	ENST00000284601.3	-	4	2819	c.2751C>T	c.(2749-2751)tcC>tcT	p.S917S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	917					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATGATGTTTGGAAAAAGGAG	0.393000													25	71					0	0	0.00047179	0	0
TATDN2	9797	broad.mit.edu	37	3	10312400	10312400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:10312400C>T	ENST00000287652.4	+	4	2585	c.1534C>T	c.(1534-1536)Caa>Taa	p.Q512*	TATDN2_ENST00000448281.2_Nonsense_Mutation_p.Q512*|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	512						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GCTATCTTTCCAAGGGACCTT	0.498000													32	11					0	0	0.000692331	0	0
ADAM30	11085	broad.mit.edu	37	1	120438014	120438014	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:120438014C>T	ENST00000369400.1	-	1	1104	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	316	Peptidase M12B.				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)		CCAGCATATTCTAGAGAACAC	0.408000													231	411					0	0	0.000781405	0	0
HAO2	51179	broad.mit.edu	37	1	119936430	119936430	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:119936430C>T	ENST00000361035.4	+	9	1345	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	HAO2_ENST00000325945.3_Silent_p.I341I|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	341					fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCGCTGAGATCAATCGAAACT	0.473000													45	80					0	0	0.000781405	0	0
ABCC1	4363	broad.mit.edu	37	16	16215849	16215849	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:16215849C>T	ENST00000399408.2	+	25	3613	c.3438C>T	c.(3436-3438)tcC>tcT	p.S1146S	ABCC1_ENST00000349029.5_Silent_p.S1021S|ABCC1_ENST00000346370.5_Silent_p.S1080S|ABCC1_ENST00000399410.3_Silent_p.S1136S|ABCC1_ENST00000345148.5_Silent_p.S1136S|ABCC1_ENST00000351154.5_Silent_p.S1077S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1136	ABC transmembrane type-1 2.		V -> I (in dbSNP:rs28706727).		hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACGTGGCTTCCTCCCGGCAGC	0.612000													12	21					0	0	0.00244969	0	0
DAGLA	747	broad.mit.edu	37	11	61504776	61504776	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:61504776C>T	ENST00000257215.5	+	14	1610	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	498					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTGCCTACTCCCCGCCAGGGG	0.657000													70	105					0	0	0.000781405	0	0
OR4K1	79544	broad.mit.edu	37	14	20404050	20404050	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:20404050C>T	ENST00000285600.4	+	1	284	c.225C>T	c.(223-225)aaC>aaT	p.N75N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N75K(1)		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)		GTCAGTCTAACTTTGCCACCC	0.378000													15	140					0	0	0.000308642	0	0
RET	5979	broad.mit.edu	37	10	43606833	43606833	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:43606833T>G	ENST00000355710.3	+	7	1674	c.1442T>G	c.(1441-1443)cTt>cGt	p.L481R	RET_ENST00000340058.5_Missense_Mutation_p.L481R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	481					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGTGCCGAACTTCACTACATG	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				4	20					0	0	0.00024832	0	0
LRTM1	57408	broad.mit.edu	37	3	54952869	54952869	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:54952869T>A	ENST00000273286.5	-	3	817	c.655A>T	c.(655-657)Aag>Tag	p.K219*	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Nonsense_Mutation_p.K143*|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	219	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGAGGTCCTTTCCCTTCCAG	0.527000													12	6					0	0	0.000978159	0	0
PPM1G	5496	broad.mit.edu	37	2	27605342	27605342	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:27605342C>T	ENST00000344034.4	-	8	1596		c.e8+1		PPM1G_ENST00000350803.4_Splice_Site	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G						cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAGTGCTCACCAGATGCCAT	0.512000													39	80					0	0	0.00148497	0	0
CNTN2	6900	broad.mit.edu	37	1	205027462	205027462	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:205027462G>A	ENST00000331830.4	+	4	653	c.369G>A	c.(367-369)agG>agA	p.R123R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	123	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTGTCAGCAGGGAGGCCATCC	0.627000													15	23					0	0	0.000422831	0	0
XIRP2	129446	broad.mit.edu	37	2	168100889	168100889	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:168100889G>A	ENST00000409195.1	+	9	3076	c.2987G>A	c.(2986-2988)gGa>gAa	p.G996E	XIRP2_ENST00000409273.1_Missense_Mutation_p.G774E|XIRP2_ENST00000295237.9_Missense_Mutation_p.G996E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	821					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATCCCCTTGGAAAATATCAT	0.403000													22	30					0	0	0.000586117	0	0
VWA3B	200403	broad.mit.edu	37	2	98804458	98804458	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:98804458C>T	ENST00000477737.1	+	10	1536	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	VWA3B_ENST00000435344.1_Silent_p.V444V|VWA3B_ENST00000451075.2_Silent_p.V294V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	444										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAAGACAGTCCATGCAAAAT	0.483000													26	23					0	0	0.000586117	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503770	27503770	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:27503770G>A	ENST00000356183.4	-	19	3055	c.3040C>T	c.(3040-3042)Ctg>Ttg	p.L1014L	GTF3C1_ENST00000561623.1_Silent_p.L1014L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1014						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						CTGCGGGCCAGGTTGTAATGT	0.522000													22	70					0	0	0.000720815	0	0
CRTC1	23373	broad.mit.edu	37	19	18870915	18870915	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:18870915C>T	ENST00000338797.6	+	9	836	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	CRTC1_ENST00000321949.8_Missense_Mutation_p.P255S|CRTC1_ENST00000601916.1_Missense_Mutation_p.P180S|CRTC1_ENST00000594658.1_Missense_Mutation_p.P214S	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	255					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CATCCACTTCCCCTCCCCGCT	0.672000													20	4					0	0	0.00188189	0	0
EHMT2	10919	broad.mit.edu	37	6	31852227	31852227	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:31852227G>T	ENST00000395728.3	-	20	2883	c.2884C>A	c.(2884-2886)Cgc>Agc	p.R962S	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R928S|EHMT2_ENST00000375530.4_Missense_Mutation_p.R871S|EHMT2_ENST00000375537.4_Missense_Mutation_p.R905S			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	905					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGAGCTTGCGGTTGAGTTGA	0.632000													7	199					0.00198382	0.00873923	0.00198382	1	0
KCNQ4	9132	broad.mit.edu	37	1	41283874	41283874	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:41283874C>T	ENST00000347132.5	+	3	526	c.444C>T	c.(442-444)atC>atT	p.I148I	KCNQ4_ENST00000509682.2_Silent_p.I148I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	148					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGGAGTACATCGTCCGGGTCT	0.607000													25	56					0	0	0.000720815	0	0
LRP1B	53353	broad.mit.edu	37	2	141739790	141739790	+	Silent	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:141739790T>C	ENST00000389484.3	-	18	3797	c.2826A>G	c.(2824-2826)agA>agG	p.R942R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	942	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCCATGCTCTGGGAATGC	0.418000										TSP Lung(27;0.18)			7	62					0	0	0.000274275	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453035	110453035	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:110453035G>A	ENST00000378402.5	+	33	4157	c.4053G>A	c.(4051-4053)agG>agA	p.R1351R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1351	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACCATAAGGGGTTTTGGAT	0.378000										HNSCC(38;0.096)			61	121					0	0	0.000781405	0	0
OR5F1	338674	broad.mit.edu	37	11	55761613	55761613	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:55761613G>A	ENST00000278409.1	-	1	488	c.489C>T	c.(487-489)gtC>gtT	p.V163V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACAAGCTGCTGACATGGCTTG	0.473000													34	49					0	0	0.000692331	0	0
SNUPN	10073	broad.mit.edu	37	15	75902304	75902304	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:75902304G>A	ENST00000564644.1	-	5	913	c.335C>T	c.(334-336)cCt>cTt	p.P112L	SNUPN_ENST00000567134.1_Missense_Mutation_p.P112L|SNUPN_ENST00000308588.5_Missense_Mutation_p.P112L|SNUPN_ENST00000564675.1_Missense_Mutation_p.P112L|SNUPN_ENST00000371091.5_Missense_Mutation_p.P154L			O95149	SPN1_HUMAN	snurportin 1	112	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CAAATCTGAAGGAACGTCAAT	0.493000													20	25					0	0	0.00188189	0	0
C1orf168	199920	broad.mit.edu	37	1	57257776	57257776	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:57257776C>T	ENST00000343433.6	-	2	790	c.710G>A	c.(709-711)aGc>aAc	p.S237N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	237										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTGGCAGGGGCTGCTTGCCGG	0.498000													35	61					0	0	0.00283554	0	0
PRSS1	5644	broad.mit.edu	37	7	142459661	142459661	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:142459661A>C	ENST00000486171.1	+	4	296	c.279A>C	c.(277-279)gaA>gaC	p.E93D	PRSS1_ENST00000311737.7_Missense_Mutation_p.E79D			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	79	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)			ACAACATCGAAGTCCTGGAGG	0.547000													7	115					0	0	0.00198382	0	0
BSN	8927	broad.mit.edu	37	3	49689299	49689299	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49689299C>T	ENST00000296452.4	+	5	2424	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	770					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGCCTGAGGCCTTTGACTCTG	0.632000													13	7					0	0	0.00185496	0	0
PRAME	23532	broad.mit.edu	37	22	22890990	22890990	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:22890990G>A	ENST00000543184.1	-	5	1891	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	PRAME_ENST00000398741.1_Silent_p.S343S|PRAME_ENST00000398743.2_Silent_p.S343S|PRAME_ENST00000405655.3_Silent_p.S343S|PRAME_ENST00000402697.1_Silent_p.S343S|PRAME_ENST00000539862.1_Silent_p.S327S|PRAME_ENST00000424204.2_Silent_p.S327S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	343					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGACTCTGGGACAGATGCA	0.537000													48	82					0	0	0.000781405	0	0
OTOGL	283310	broad.mit.edu	37	12	80707373	80707373	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:80707373G>A	ENST00000458043.2	+	30	3547	c.3541G>A	c.(3541-3543)Gaa>Aaa	p.E1181K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E1181K	NM_173591.3	NP_775862.3			otogelin-like									p.E1181*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTGTTGTCAGGAAGGAATATC	0.358000													36	39					0	0	0.00285205	0	0
EML5	161436	broad.mit.edu	37	14	89094155	89094155	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:89094155G>A	ENST00000554922.1	-	34	4614	c.4366C>T	c.(4366-4368)Cct>Tct	p.P1456S	EML5_ENST00000380664.5_Missense_Mutation_p.P1448S|EML5_ENST00000352093.5_Missense_Mutation_p.P1410S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1448						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGAATAGAAGGAGCTGTAGCT	0.358000													4	3					0	0	0.000602214	0	0
MURC	347273	broad.mit.edu	37	9	103340465	103340465	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:103340465C>T	ENST00000307584.5	+	1	105	c.40C>T	c.(40-42)Cac>Tac	p.H14Y		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	14					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGATAAAATCCACCAGAATCG	0.433000													22	11					0	0	0.00047179	0	0
DSG3	1830	broad.mit.edu	37	18	29041205	29041205	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:29041205G>A	ENST00000257189.4	+	8	912	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	277	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCACGTATTGAAGAAAATAT	0.328000													7	16					0	0	0.00198382	0	0
PTPRT	11122	broad.mit.edu	37	20	40980844	40980844	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:40980844C>T	ENST00000373198.3	-	10	1877	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTPRT_ENST00000373193.3_Missense_Mutation_p.E548K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E548K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E548K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E548K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	548	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGGTTTCATTCCGGAGC	0.572000													32	58					0	0	0.00283554	0	0
ALPK2	115701	broad.mit.edu	37	18	56184326	56184326	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:56184326G>A	ENST00000361673.3	-	9	5967	c.5754C>T	c.(5752-5754)atC>atT	p.I1918I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1918	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTCCGTGGCGATCTGACCAC	0.547000													23	21					0	0	0.00278032	0	0
APEH	327	broad.mit.edu	37	3	49713332	49713332	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49713332G>A	ENST00000296456.5	+	5	775	c.375G>A	c.(373-375)gaG>gaA	p.E125E	APEH_ENST00000438011.1_Silent_p.E125E	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	125					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGTCTGGGAGAAGAACCGGA	0.567000													10	15					0	0	0.000442599	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221258	140221258	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:140221258C>T	ENST00000531613.1	+	1	352	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.H118Y|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTTTTCCATGTGGACGT	0.557000													61	38					0	0	0.000781405	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:34851465C>T	ENST00000360581.1	+	4	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Silent_p.F156F|NPSR1_ENST00000531252.1_Silent_p.F145F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000													44	58					0	0	0.000781405	0	0
GLRB	2743	broad.mit.edu	37	4	158073936	158073936	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:158073936C>T	ENST00000264428.4	+	9	1241	c.971C>T	c.(970-972)tCc>tTc	p.S324F	GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.S324F|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	324					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCCAAAGTTTCCTATGTGAAG	0.483000													39	62					0	0	0.00128727	0	0
SLC25A29	123096	broad.mit.edu	37	14	100758856	100758856	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:100758856G>A	ENST00000554912.1	-	2	3765	c.478C>T	c.(478-480)Ccg>Tcg	p.P160S	SLC25A29_ENST00000359232.3_Missense_Mutation_p.P226S|SLC25A29_ENST00000539621.1_Missense_Mutation_p.P160S|SLC25A29_ENST00000555927.1_Missense_Mutation_p.P160S|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000556505.1_Missense_Mutation_p.P160S|RP11-638I2.6_ENST00000556458.1_lincRNA			Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	226						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	CGGTAGCGCGGGGCGCCCCGC	0.706000													5	4					0	0	0.00116845	0	0
FLG	2312	broad.mit.edu	37	1	152282710	152282710	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152282710C>T	ENST00000368799.1	-	3	4687	c.4652G>A	c.(4651-4653)gGa>gAa	p.G1551E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1551	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)			GGAGCCGTCTCCTGATTGTTC	0.597000									Ichthyosis				56	155					0	0	0.000781405	0	0
KIAA1257	57501	broad.mit.edu	37	3	128695841	128695841	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:128695841C>T	ENST00000265068.5	-	6	1044	c.877G>A	c.(877-879)Gac>Aac	p.D293N	KIAA1257_ENST00000511438.1_Missense_Mutation_p.D293N|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D181N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	293										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GAAGAATCGTCCATTTTGAGG	0.438000													13	26					0	0	0.00244969	0	0
ANO2	57101	broad.mit.edu	37	12	6030386	6030386	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:6030386G>A	ENST00000546188.1	-	3	413	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ANO2_ENST00000356134.5_Silent_p.F114F|ANO2_ENST00000327087.8_Silent_p.F114F			Q9NQ90	ANO2_HUMAN	anoctamin 2	118						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTGGCCAGGGAAGCCTTGGG	0.617000													9	23					0	0	0.000442599	0	0
ZNF676	163223	broad.mit.edu	37	19	22363024	22363024	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:22363024G>A	ENST00000397121.2	-	3	1812	c.1495C>T	c.(1495-1497)Cat>Tat	p.H499Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTATCTTA	0.383000													15	13					0	0	0.00244969	0	0
BEST3	144453	broad.mit.edu	37	12	70049039	70049039	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:70049039G>A	ENST00000330891.5	-	10	1881	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.P446L|BEST3_ENST00000488961.1_Missense_Mutation_p.P339L	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	552						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTCTGAGGGAGACAGGAT	0.547000													33	100					0	0	0.00283554	0	0
POM121L12	285877	broad.mit.edu	37	7	53104225	53104225	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:53104225C>T	ENST00000408890.4	+	1	877	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	287										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTCGAGGTCACCCAGTCTG	0.622000													15	30					0	0	0.00074312	0	0
MGP	4256	broad.mit.edu	37	12	15035095	15035095	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:15035095C>T	ENST00000539261.1	-	4	424	c.290G>A	c.(289-291)aGg>aAg	p.R97K	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.R122K	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	97	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TCGGCGCTTCCTGAAGTAGCG	0.478000													71	88					0	0	0.000781405	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529171	5529171	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:5529171G>A	ENST00000311659.4	-	2	1765	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	540										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGGAGGCGAGGTGCTTCA	0.577000													12	26					0	0	0.00136819	0	0
EGF	1950	broad.mit.edu	37	4	110925678	110925678	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:110925678C>T	ENST00000265171.5	+	22	3636	c.3191C>T	c.(3190-3192)tCg>tTg	p.S1064L	EGF_ENST00000509793.1_Missense_Mutation_p.S1022L|EGF_ENST00000503392.1_Missense_Mutation_p.S1023L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1064					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAGCTGCTATCGAAAAACCCA	0.468000													50	81					0	0	0.000781405	0	0
XKR6	286046	broad.mit.edu	37	8	10756103	10756103	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:10756103A>G	ENST00000416569.2	-	3	1311	c.1285T>C	c.(1285-1287)Tgc>Cgc	p.C429R	XKR6_ENST00000304437.2_Missense_Mutation_p.C150R	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	429						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TTAAACCAGCAGAAAATGTAC	0.478000													14	19					0	0	0.00185496	0	0
EFCAB6	64800	broad.mit.edu	37	22	44112819	44112819	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:44112819G>A	ENST00000262726.7	-	9	1044	c.791C>T	c.(790-792)tCc>tTc	p.S264F	EFCAB6_ENST00000356087.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000358439.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S112F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCTTTTTGGAATTTTTGGC	0.353000													18	48					0	0	0.000566183	0	0
HTR2C	3358	broad.mit.edu	37	X	114141186	114141186	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:114141186G>A	ENST00000371950.3	+	6	1214	c.490G>A	c.(490-492)Gga>Aga	p.G164R	HTR2C_ENST00000371951.1_Silent_p.R195R|HTR2C_ENST00000276198.1_Silent_p.R195R	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTGGACTGAGGGACGAAGAAA	0.458000													54	18					0	0	0.000781405	0	0
DIDO1	11083	broad.mit.edu	37	20	61511288	61511288	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:61511288G>A	ENST00000266070.4	-	16	6345	c.6020C>T	c.(6019-6021)tCg>tTg	p.S2007L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S2007L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2007	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGAAATCGCGAAGGGGTCTG	0.632000													36	67					0	0	0.000953801	0	0
THPO	7066	broad.mit.edu	37	3	184091239	184091239	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:184091239G>A	ENST00000204615.7	-	5	574	c.360C>T	c.(358-360)ctC>ctT	p.L120L	THPO_ENST00000421442.2_Silent_p.L120L|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.L120L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	120					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCAAGGAGGAGACGGACCT	0.587000													7	32					0	0	0.000274275	0	0
LDHC	3948	broad.mit.edu	37	11	18460142	18460142	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:18460142G>A	ENST00000541669.1	+	6	771	c.660G>A	c.(658-660)acG>acA	p.T220T	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Silent_p.T162T|LDHC_ENST00000544105.1_Silent_p.T220T|LDHC_ENST00000536880.1_Silent_p.T206T|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000280704.4_Silent_p.T220T			P07864	LDHC_HUMAN	lactate dehydrogenase C	220					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AATTAGGAACGGATTCAGATA	0.358000													11	26					0	0	0.000673444	0	0
ADAP2	55803	broad.mit.edu	37	17	29272027	29272027	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:29272027G>A	ENST00000330889.3	+	6	948	c.613G>A	c.(613-615)Gat>Aat	p.D205N	ADAP2_ENST00000580525.1_Missense_Mutation_p.D211N	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	205	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTACAGGAGAGATGGCCACAC	0.547000													15	11					0	0	0.000422831	0	0
HGF	3082	broad.mit.edu	37	7	81381514	81381514	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:81381514C>T	ENST00000222390.5	-	5	773	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	HGF_ENST00000453411.1_Missense_Mutation_p.E178K|HGF_ENST00000444829.2_Missense_Mutation_p.E183K|HGF_ENST00000457544.2_Missense_Mutation_p.E178K|HGF_ENST00000423064.2_Missense_Mutation_p.E183K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	183	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCCCTTCTTCCCCTCGAGGA	0.438000													15	49					0	0	0.000566183	0	0
SLC35B1	10237	broad.mit.edu	37	17	47785270	47785270	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:47785270C>T	ENST00000415270.2	-	1	43	c.37G>A	c.(37-39)Gag>Aag	p.E13K	SLC35B1_ENST00000240333.6_5'UTR	NM_005827.1	NP_005818.1	P78383	S35B1_HUMAN	solute carrier family 35, member B1	0						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GGCGACAGCTCCAGCCGGACA	0.697000											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	2					0	0	0.00116845	0	0
KRT71	112802	broad.mit.edu	37	12	52946563	52946563	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:52946563C>T	ENST00000267119.5	-	1	368	c.299G>A	c.(298-300)gGa>gAa	p.G100E		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	100	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTGGATGCCTCCAGGTGGGCA	0.637000													20	14					0	0	0.00121646	0	0
IGDCC4	57722	broad.mit.edu	37	15	65687481	65687481	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:65687481C>T	ENST00000352385.2	-	8	1736	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	509	Fibronectin type-III 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCTGGCTCCCAGCTGGGAGT	0.557000													8	23					0	0	0.000274275	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078628	40078628	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:40078628A>G	ENST00000336649.4	+	38	5810	c.5810A>G	c.(5809-5811)aAc>aGc	p.N1937S	CACNA1I_ENST00000402142.3_Missense_Mutation_p.N1931S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.N1896S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.N1896S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.N1931S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.N1896S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1931					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ATCCCATTCAACCCTGTCCGG	0.602000													6	16					0	0	0.00116845	0	0
RELN	5649	broad.mit.edu	37	7	103124250	103124250	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:103124250C>T	ENST00000428762.1	-	62	10190	c.10031G>A	c.(10030-10032)aGc>aAc	p.S3344N	RELN_ENST00000424685.2_Missense_Mutation_p.S3344N|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.S3344N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3344					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGTTGCAGCTGTCCGTCTG	0.463000													32	51					0	0	0.00058488	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586352	106586352	+	RNA	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:106586352C>T	ENST00000390602.2	-	0	212																											AAGGTGAATCCAGAGGCTGCA	0.567000													5	51					0	0	0.00116845	0	0
CALCRL	10203	broad.mit.edu	37	2	188216985	188216985	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:188216985G>A	ENST00000409998.1	-	14	1765	c.984C>T	c.(982-984)tcC>tcT	p.S328S	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.S328S|CALCRL_ENST00000410068.1_Silent_p.S328S			Q16602	CALRL_HUMAN	calcitonin receptor-like	328						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGTACAGATTGGATTCCGCTT	0.393000													14	31					0	0	0.000422831	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111697979	111697979	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:111697979C>T	ENST00000340433.2	+	1	253	c.23C>T	c.(22-24)tCa>tTa	p.S8L		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	8							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACGAAATCATCATCTACCATG	0.468000													43	10					0	0	0.000781405	0	0
DHRS12	79758	broad.mit.edu	37	13	52364186	52364186	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:52364186C>T	ENST00000218981.1	-	4	373	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DHRS12_ENST00000280056.2_Missense_Mutation_p.E88K|DHRS12_ENST00000444610.2_Missense_Mutation_p.E137K|DHRS12_ENST00000490949.1_5'UTR	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	137							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		AGTCCATCTTCTGTGAGCTCT	0.308000													31	63					0	0	0.000953801	0	0
CSMD2	114784	broad.mit.edu	37	1	34090134	34090134	+	Silent	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:34090134T>C	ENST00000373381.4	-	35	5786	c.5610A>G	c.(5608-5610)gaA>gaG	p.E1870E	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.E743E	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1830	CUB 11.					integral to membrane|plasma membrane	protein binding			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)				TGCCAGCGCCTTCGGGGACCA	0.647000													23	28					0	0	0.000586117	0	0
PAX1	5075	broad.mit.edu	37	20	21687290	21687290	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:21687290G>A	ENST00000398485.2	+	2	555	c.501G>A	c.(499-501)ggG>ggA	p.G167G	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.G143G	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	167	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCATCGGGGGGAGCAAGCCCC	0.652000													22	19					0	0	0.00152264	0	0
ALDH2	217	broad.mit.edu	37	12	112219760	112219760	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:112219760G>A	ENST00000546840.2	+	3	143	c.143G>A	c.(142-144)gGa>gAa	p.G48E	ALDH2_ENST00000261733.2_Silent_p.R51R|ALDH2_ENST00000416293.3_Silent_p.R51R																							CCGTCAGCAGGAAAACATTCC	0.483000													37	15					0	0	0.00222228	0	0
AGAP1	116987	broad.mit.edu	37	2	237028968	237028968	+	Silent	SNP	C	C	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:237028968C>A	ENST00000409538.1	+	16	3379	c.2883C>A	c.(2881-2883)atC>atA	p.I961I	AGAP1_ENST00000336665.5_Silent_p.I696I|AGAP1_ENST00000304032.7_Silent_p.I749I|AGAP1_ENST00000428334.2_Silent_p.I588I			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	749					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGACGGCCATCCTGCTGCTGG	0.716000													21	23					1.64293e-13	7.33905e-13	0.00047179	1	0
TXNDC2	84203	broad.mit.edu	37	18	9887635	9887635	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:9887635G>A	ENST00000306084.6	+	2	1358	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S	TXNDC2_ENST00000357775.4_Missense_Mutation_p.G320S|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	387	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAAGGAGGGTGACATTCC	0.567000													18	32					0	0	0.00152264	0	0
HNF1B	6928	broad.mit.edu	37	17	36047354	36047354	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:36047354G>A	ENST00000560016.1	-	8	1709	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	HNF1B_ENST00000427275.2_Missense_Mutation_p.R435C|HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000561193.1_3'UTR			P35680	HNF1B_HUMAN	HNF1 homeobox B	0					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTTGCGCACGAAGTAAGTGG	0.572000													110	90					0	0	0.000781405	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671742	176671742	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:176671742G>A	ENST00000367662.3	+	9	4400		c.e9-1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTTCCACAGGGAGGTCACA	0.498000													13	28					0	0	0.00136819	0	0
CRNN	49860	broad.mit.edu	37	1	152382122	152382122	+	Missense_Mutation	SNP	C	C	T	rs138795800		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152382122C>T	ENST00000271835.3	-	3	1498	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	479					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGATGCCTCGCTTCTCTTC	0.542000													22	52					0	0	0.00229938	0	0
STRN3	29966	broad.mit.edu	37	14	31424860	31424860	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:31424860G>A	ENST00000355683.5	-	3	641	c.426C>T	c.(424-426)aaC>aaT	p.N142N	STRN3_ENST00000357479.5_Silent_p.N142N	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	142					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGTCACCTTGGTTCAGTTCCG	0.303000													18	17					0	0	0.00229938	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48212944	48212944	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:48212944C>T	ENST00000316878.6	-	11	2370	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	790	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TCCATCTCCTCCTTTCTGGCC	0.632000													10	3					0	0	0.000673444	0	0
LLGL2	3993	broad.mit.edu	37	17	73567847	73567847	+	Missense_Mutation	SNP	C	C	T	rs150971482		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:73567847C>T	ENST00000392550.3	+	18	2393	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	LLGL2_ENST00000577200.1_Missense_Mutation_p.P759L|LLGL2_ENST00000167462.5_Missense_Mutation_p.P759L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	759			P -> S (in dbSNP:rs1661715).		cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGGATGAGCCTGTGCGGGCA	0.701000													14	20					0	0	0.000422831	0	0
SDK1	221935	broad.mit.edu	37	7	4152925	4152925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:4152925C>T	ENST00000404826.2	+	24	3578	c.3439C>T	c.(3439-3441)Cga>Tga	p.R1147*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1147*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1147	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1147*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTAGATTTCGAATGAAGCA	0.537000													76	153					0	0	0.000781405	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325450	150325450	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:150325450G>A	ENST00000328902.5	-	3	452	c.236C>T	c.(235-237)tCc>tTc	p.S79F	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	79							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)		CCGTCTCTGGGAGGTCTTGGT	0.582000													49	56					0	0	0.000781405	0	0
EVPL	2125	broad.mit.edu	37	17	74006472	74006472	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:74006472C>T	ENST00000301607.3	-	22	3067	c.2814G>A	c.(2812-2814)caG>caA	p.Q938Q	EVPL_ENST00000586740.1_Silent_p.Q960Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	938	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTTGGCTCCTCTGCGCCTCCA	0.662000													27	23					0	0	0.001512	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20896269	20896269	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:20896269C>T	ENST00000381552.1	+	13	2132	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	SLCO1C1_ENST00000540354.1_Silent_p.A539A|SLCO1C1_ENST00000545604.1_Silent_p.A588A|SLCO1C1_ENST00000266509.2_Silent_p.A588A|SLCO1C1_ENST00000545102.1_Silent_p.A470A			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	588					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AGTCTTTTGCCTTGGGTATCT	0.308000													71	140					0	0	0.000781405	0	0
FNIP1	96459	broad.mit.edu	37	5	131066709	131066709	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:131066709A>C	ENST00000307968.7	-	3	241	c.242T>G	c.(241-243)gTt>gGt	p.V81G	FNIP1_ENST00000307954.8_Intron|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.V81G|FNIP1_ENST00000511848.1_Missense_Mutation_p.V81G	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AAAGACTTTAACTTGAGCATC	0.348000													38	13					0	0	0.0025221	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479932	142479932	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:142479932G>A	ENST00000603901.1	+	0	64					NR_001296.3																						TGATGATGATGACAAGATCGT	0.552000													12	134					0	0	0.000308642	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841502	8841502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:8841502G>A	ENST00000324060.2	+	1	187	c.112G>A	c.(112-114)Ggc>Agc	p.G38S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTTGTCATAGGCCTTCTGGG	0.547000													24	14					0	0	0.000586117	0	0
RALYL	138046	broad.mit.edu	37	8	85774565	85774565	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:85774565C>T	ENST00000521268.1	+	6	1553	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	RALYL_ENST00000518566.1_Missense_Mutation_p.P139S|RALYL_ENST00000517638.1_Missense_Mutation_p.P163S|RALYL_ENST00000523850.1_Missense_Mutation_p.P77S|RALYL_ENST00000521695.1_Missense_Mutation_p.P150S|RALYL_ENST00000522455.1_Missense_Mutation_p.P150S|RALYL_ENST00000521376.1_Missense_Mutation_p.P61S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	150							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCCTCCACCTCCCCGTGCAGT	0.493000													4	13					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179553407	179553407	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179553407C>T	ENST00000589042.1	-	126	32418	c.32194G>A	c.(32194-32196)Gaa>Aaa	p.E10732K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10415K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9488K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10415	Glu-rich.|Pro-rich.						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)			TATATACCTTCGTGCCGCGTG	0.398000													17	56					0	0	0.000566183	0	0
RSU1	6251	broad.mit.edu	37	10	16794967	16794967	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:16794967C>T	ENST00000377921.3	-	5	734	c.433G>A	c.(433-435)Gat>Aat	p.D145N	RSU1_ENST00000345264.5_Missense_Mutation_p.D145N|RSU1_ENST00000602389.1_Missense_Mutation_p.D92N|RSU1_ENST00000464074.2_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	145					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATTTCAAAATCGTTGTCACTT	0.398000													20	12					0	0	0.00278032	0	0
SCN1A	6323	broad.mit.edu	37	2	166895947	166895947	+	Missense_Mutation	SNP	G	G	A	rs121918784		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:166895947G>A	ENST00000423058.2	-	14	2592	c.2575C>T	c.(2575-2577)Cgt>Tgt	p.R859C	SCN1A_ENST00000303395.4_Missense_Mutation_p.R859C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R848C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R831C|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	859			R -> C (in GEFS+2; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel; dbSNP:rs121918784).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGAAATGAACGGAGAACAGAT	0.363000													12	27					0	0	0.00244969	0	0
PKP3	11187	broad.mit.edu	37	11	396967	396967	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:396967C>T	ENST00000331563.2	+	3	542	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	156					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACCCCTCCCATGCCCAC	0.716000													4	11					0	0	0.00024832	0	0
GCN1L1	10985	broad.mit.edu	37	12	120578761	120578761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:120578761G>A	ENST00000300648.6	-	45	5908	c.5896C>T	c.(5896-5898)Ccc>Tcc	p.P1966S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1966					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAAGGATGGGGATGATCTCG	0.532000													78	22					0	0	0.000781405	0	0
OR2V2	285659	broad.mit.edu	37	5	180582587	180582587	+	Silent	SNP	C	C	T	rs146384535	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:180582587C>T	ENST00000328275.1	+	1	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCATCATCGTGGCCTCCT	0.522000													92	46					0	0	0.000781405	0	0
GABPB1	2553	broad.mit.edu	37	15	50570924	50570924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50570924G>A	ENST00000380877.3	-	9	1480	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	GABPB1_ENST00000543881.1_Nonsense_Mutation_p.R289*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.R365*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	365					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						AGCTGCTGTCGATATTTTTGT	0.368000													40	77					0	0	0.00170553	0	0
DOT1L	84444	broad.mit.edu	37	19	2220136	2220136	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:2220136C>T	ENST00000398665.3	+	23	2757	c.2721C>T	c.(2719-2721)ccC>ccT	p.P907P		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	907						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TGCTGCAGCCCCGTGACCCCT	0.637000													12	11					0	0	0.00074312	0	0
GSG1	83445	broad.mit.edu	37	12	13240852	13240852	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:13240852G>A	ENST00000337630.6	-	4	582	c.515C>T	c.(514-516)tCt>tTt	p.S172F	GSG1_ENST00000537302.1_Intron|GSG1_ENST00000324458.8_Missense_Mutation_p.S208F|GSG1_ENST00000396302.3_Silent_p.L213L|GSG1_ENST00000351606.6_Silent_p.L249L|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000432710.2_Missense_Mutation_p.S185F	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	195						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGACAGGACAGAGGAAACAGC	0.557000													10	24					0	0	0.000442599	0	0
PLIN4	729359	broad.mit.edu	37	19	4516655	4516655	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:4516655C>T	ENST00000301286.3	-	2	186	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	63						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGCTCCTTCTCCGTCCATGGG	0.637000													7	3					0	0	0.000442599	0	0
ARL10	285598	broad.mit.edu	37	5	175793397	175793397	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:175793397G>A	ENST00000310389.5	+	2	294	c.198G>A	c.(196-198)gaG>gaA	p.E66E		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	66							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		AGGACGAGGAGGACGAGGAGC	0.692000													7	3					0	0	0.000157383	0	0
TRIM55	84675	broad.mit.edu	37	8	67064740	67064740	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:67064740A>T	ENST00000315962.4	+	8	1487	c.1114A>T	c.(1114-1116)Aac>Tac	p.N372Y	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.N372Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.N372Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	372						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGAAGATGAAAACCCAGAAAA	0.527000													33	41					0	0	0.000953801	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195625	18195625	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:18195625C>T	ENST00000314254.3	+	1	1242	c.822C>T	c.(820-822)ttC>ttT	p.F274F	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTACTTCTTCGTGGGCTCCT	0.488000													33	52					0	0	0.000814825	0	0
DYSF	8291	broad.mit.edu	37	2	71743372	71743372	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:71743372G>A	ENST00000258104.3	+	8	1132	c.855_splice	c.e8+1	p.T285_splice	DYSF_ENST00000429174.2_Splice_Site_p.T285_splice|DYSF_ENST00000394120.2_Splice_Site_p.T286_splice|DYSF_ENST00000409582.3_Splice_Site_p.T316_splice|DYSF_ENST00000410041.1_Splice_Site_p.T317_splice|DYSF_ENST00000409744.1_Splice_Site_p.T286_splice|DYSF_ENST00000410020.3_Splice_Site_p.T317_splice|DYSF_ENST00000409762.1_Splice_Site_p.T316_splice|DYSF_ENST00000409651.1_Splice_Site_p.T317_splice|DYSF_ENST00000409366.1_Splice_Site_p.T286_splice|DYSF_ENST00000413539.2_Splice_Site_p.T316_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	285	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTTTATCACGGTATGTCTCA	0.488000													8	11					0	0	0.000274275	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205768	36205768	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36205768G>A	ENST00000392197.2	+	3	558	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ZBTB32_ENST00000262630.3_Silent_p.G80G			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	80	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTGTGTATGGGGAGAGTGTAG	0.632000													22	62					0	0	0.000720815	0	0
NLRP7	199713	broad.mit.edu	37	19	55451105	55451105	+	Missense_Mutation	SNP	G	G	A	rs143169084	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55451105G>A	ENST00000446217.1	-	6	1568	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	NLRP7_ENST00000340844.2_Missense_Mutation_p.S361L|NLRP7_ENST00000328092.5_Missense_Mutation_p.S361L|NLRP7_ENST00000448121.2_Missense_Mutation_p.S361L|NLRP7_ENST00000592784.1_Missense_Mutation_p.S361L|NLRP7_ENST00000590030.1_Missense_Mutation_p.S361L|NLRP7_ENST00000588756.1_Missense_Mutation_p.S361L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	361	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGCGGGGGCCGAGCCCAGCTG	0.632000													18	27					0	0	0.00229938	0	0
ABCA2	20	broad.mit.edu	37	9	139906452	139906452	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:139906452G>A	ENST00000265662.5	-	35	5526	c.5379C>T	c.(5377-5379)gtC>gtT	p.V1793V	ABCA2_ENST00000341511.6_Silent_p.V1793V|ABCA2_ENST00000371605.3_Silent_p.V1792V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1792					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGCGATGACGACATCCGTGC	0.637000													23	6					0	0	0.000720815	0	0
AFP	174	broad.mit.edu	37	4	74302028	74302028	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:74302028G>A	ENST00000395792.2	+	1	149	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AFP_ENST00000226359.2_Missense_Mutation_p.E17K	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	17					transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATTTTACTGAATCCAGAAC	0.284000									Alpha-Fetoprotein, Hereditary Persistence of				21	30					0	0	0.000878237	0	0
LILRA1	11024	broad.mit.edu	37	19	55107841	55107841	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55107841C>T	ENST00000251372.3	+	7	1328	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	382	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGCTGAATTCCCTATGAGTC	0.587000													35	74					0	0	0.00128727	0	0
PGM2L1	283209	broad.mit.edu	37	11	74085522	74085522	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:74085522G>A	ENST00000298198.4	-	2	528	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	73					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATGGCAGAACGAAGTCCTGCA	0.413000													15	19					0	0	0.000422831	0	0
ARAP2	116984	broad.mit.edu	37	4	36230649	36230649	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:36230649G>A	ENST00000303965.4	-	2	949	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	154					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTGCAGTGGGGAAGTCGCGT	0.388000													23	38					0	0	0.00278032	0	0
PKD2	5311	broad.mit.edu	37	4	88996693	88996693	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:88996693C>T	ENST00000237596.2	+	15	2820	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Silent_p.S336S|PKD2_ENST00000502363.1_Silent_p.S336S	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	918	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GCTGGGAATCCGATGATGCAG	0.512000													37	62					0	0	0.000814825	0	0
TMEM39B	55116	broad.mit.edu	37	1	32560459	32560459	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:32560459C>T	ENST00000427288.1	+	8	1137	c.657C>T	c.(655-657)ctC>ctT	p.L219L	TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Silent_p.L135L|TMEM39B_ENST00000336294.5_Silent_p.L334L			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	334						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCGTGATCCTCATGCAGCACC	0.602000													29	37					0	0	0.00209593	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635712	141635712	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:141635712A>T	ENST00000546910.1	-	5	443	c.247T>A	c.(247-249)Ttt>Att	p.F83I	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.F60I|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.F60I	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	83	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GATAAGAAAAAACATCTTGCT	0.418000													31	34					0	0	0.00209593	0	0
AMBP	259	broad.mit.edu	37	9	116840465	116840465	+	Silent	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:116840465A>G	ENST00000265132.3	-	1	287	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	9					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTCAGCAGCAAGAGCAGGGCC	0.617000													26	23					0	0	0.001512	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820308	35820308	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:35820308G>A	ENST00000399992.1	+	3	190	c.91G>A	c.(91-93)Gtc>Atc	p.V31I	MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR			A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	0										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCCACAAGGGTCATCATGTC	0.537000													20	14					0	0	0.00229938	0	0
OR2T12	127064	broad.mit.edu	37	1	248458752	248458752	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248458752C>T	ENST00000317996.1	-	1	128	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TCAGGAGAATCATGAGGGCAT	0.522000													29	50					0	0	0.00178596	0	0
LGSN	51557	broad.mit.edu	37	6	63991013	63991013	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:63991013A>G	ENST00000370658.5	-	4	476	c.443T>C	c.(442-444)gTc>gCc	p.V148A	LGSN_ENST00000370657.4_Missense_Mutation_p.V148A	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	148					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGGCATTAGGACTATGTCGCT	0.418000													7	89					0	0	0.00198382	0	0
FAM83D	81610	broad.mit.edu	37	20	37576532	37576532	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:37576532G>T	ENST00000217429.4	+	3	796	c.755G>T	c.(754-756)cGg>cTg	p.R252L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	222					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATGACAGTTCGGACTATCACA	0.413000													5	103					0.00116845	0.00516158	0.00116845	1	0
ZNF488	118738	broad.mit.edu	37	10	48371431	48371431	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:48371431A>T	ENST00000395702.2	+	2	1126	c.899A>T	c.(898-900)aAg>aTg	p.K300M	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.K193M			Q96MN9	ZN488_HUMAN	zinc finger protein 488	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CACCACAAAAAGGAGCATGCG	0.602000													25	14					0	0	0.00106085	0	0
MED12L	116931	broad.mit.edu	37	3	150877779	150877779	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:150877779G>A	ENST00000474524.1	+	7	1036	c.998G>A	c.(997-999)aGc>aAc	p.S333N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.S333N|MED12L_ENST00000422248.2_Missense_Mutation_p.S333N	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	333					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGGCCCCCAGCCCTGGCCCC	0.597000													22	68					0	0	0.00229938	0	0
SPANXN2	494119	broad.mit.edu	37	X	142803707	142803707	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:142803707G>A	ENST00000370498.1	-	1	809	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTATTGGATTCACAGGG	0.443000													48	20					0	0	0.000781405	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081308	143081308	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:143081308G>A	ENST00000367603.2	-	9	6859	c.6117C>T	c.(6115-6117)ttC>ttT	p.F2039F	HIVEP2_ENST00000367604.1_Silent_p.F2039F|HIVEP2_ENST00000012134.2_Silent_p.F2039F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTGAGGGTGAGAAGTCCCTGG	0.478000													34	23					0	0	0.000953801	0	0
SAMD9	54809	broad.mit.edu	37	7	92735124	92735124	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:92735124G>A	ENST00000379958.2	-	3	556	c.287C>T	c.(286-288)cCt>cTt	p.P96L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	96						cytoplasm		p.P96L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGTCTTTAGGAGCATTTTT	0.388000													54	118					0	0	0.000781405	0	0
BIRC6	57448	broad.mit.edu	37	2	32724764	32724764	+	Silent	SNP	C	C	T	rs111947829		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:32724764C>T	ENST00000421745.2	+	46	8753	c.8619C>T	c.(8617-8619)tgC>tgT	p.C2873C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2873					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATATCACTTGCTCAGACAAAG	0.433000													64	135					0	0	0.000781405	0	0
KCNB2	9312	broad.mit.edu	37	8	73848737	73848737	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:73848737G>A	ENST00000523207.1	+	3	1735	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	383					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GACCACTGTTGGCTATGGTGA	0.453000													34	55					0	0	0.000692331	0	0
VPS13C	54832	broad.mit.edu	37	15	62241655	62241655	+	Silent	SNP	G	G	A	rs80151244	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:62241655G>A	ENST00000261517.5	-	42	4819	c.4746C>T	c.(4744-4746)atC>atT	p.I1582I	VPS13C_ENST00000249837.3_Silent_p.I1539I|VPS13C_ENST00000395898.3_Silent_p.I1539I|VPS13C_ENST00000395896.4_Silent_p.I1582I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1582					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						CTTTGACAGCGATACTTCTGG	0.348000													38	63					0	0	0.00128727	0	0
PSG8	440533	broad.mit.edu	37	19	43258585	43258585	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:43258585G>A	ENST00000404209.4	-	5	1239	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PSG8_ENST00000406636.3_Silent_p.I259I|PSG8_ENST00000306511.4_Silent_p.I381I|PSG8_ENST00000401467.2_Silent_p.I288I|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	381	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TAATTTGGGGGATAAAGAGCT	0.458000													74	153					0	0	0.000781405	0	0
DRD5	1816	broad.mit.edu	37	4	9784440	9784440	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:9784440G>A	ENST00000304374.2	+	1	1183	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	263					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TTCCTCCCTGGAGAGGGCCGC	0.627000													8	17					0	0	0.000157383	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000530628.2_Silent_p.A128A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			36	24					0	0	0.00170553	0	0
CCDC40	55036	broad.mit.edu	37	17	78055753	78055753	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:78055753G>A	ENST00000397545.4	+	12	1912	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	CCDC40_ENST00000374877.3_Missense_Mutation_p.D629N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	629					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGAAGACGGATGCTGCCAT	0.567000													14	25					0	0	0.00244969	0	0
CEP350	9857	broad.mit.edu	37	1	180062691	180062691	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:180062691C>T	ENST00000367607.3	+	34	7869	c.7451C>T	c.(7450-7452)tCc>tTc	p.S2484F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2484						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAATCCCCTTCCTTGGCTTCA	0.453000													13	26					0	0	0.00136819	0	0
SLC44A2	57153	broad.mit.edu	37	19	10738467	10738467	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:10738467C>T	ENST00000586078.1	+	3	265	c.156C>T	c.(154-156)atC>atT	p.I52I	SLC44A2_ENST00000335757.5_Silent_p.I52I|SLC44A2_ENST00000407327.4_Silent_p.I50I	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	52					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTGTAGGCATCATAGGTGAGT	0.587000													28	16					0	0	0.001512	0	0
ACTR5	79913	broad.mit.edu	37	20	37400315	37400315	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:37400315G>A	ENST00000243903.4	+	9	1717	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	560					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				ATGAAGAAAAGGGAGGAGAGT	0.552000													21	35					0	0	0.00106085	0	0
LYST	1130	broad.mit.edu	37	1	235969602	235969602	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:235969602G>A	ENST00000389794.3	-	6	3008	c.2834C>T	c.(2833-2835)tCt>tTt	p.S945F	LYST_ENST00000536965.1_Missense_Mutation_p.S945F|LYST_ENST00000389793.2_Missense_Mutation_p.S945F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	945					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTCTCGAGAGATATACATGG	0.483000													46	60					0	0	0.000781405	0	0
HERC1	8925	broad.mit.edu	37	15	63955388	63955388	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:63955388G>A	ENST00000443617.2	-	44	8783	c.8696C>T	c.(8695-8697)tCt>tTt	p.S2899F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2899					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCCTGCACAGAGCGGTATAA	0.393000													56	105					0	0	0.000781405	0	0
LSP1	4046	broad.mit.edu	37	11	1874417	1874417	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:1874417G>A	ENST00000311604.3	+	1	218	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	15				Missing (in Ref. 3; AAB29545).	cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGAGCGGGAAGAGTTGCTGGG	0.667000													8	10					0	0	0.000274275	0	0
ZNF560	147741	broad.mit.edu	37	19	9579859	9579859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9579859C>T	ENST00000301480.4	-	9	747	c.534G>A	c.(532-534)tgG>tgA	p.W178*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	178	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGCACATTTTCCATTCTGAAA	0.289000													10	8					0	0	0.000673444	0	0
CACNG6	59285	broad.mit.edu	37	19	54515287	54515287	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:54515287G>A	ENST00000252729.2	+	4	1217	c.627G>A	c.(625-627)ccG>ccA	p.P209P	CACNG6_ENST00000352529.1_Silent_p.P138P|CACNG6_ENST00000346968.2_Silent_p.P163P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	209						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCCTCCCCCGGCCCCACGCC	0.692000													18	26					0	0	0.00229938	0	0
CDCA2	157313	broad.mit.edu	37	8	25343304	25343304	+	Silent	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:25343304T>C	ENST00000330560.3	+	11	1872	c.1395T>C	c.(1393-1395)ttT>ttC	p.F465F	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.F450F	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	465					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAGTATCATTTGCCGTTCTCA	0.313000													23	48					0	0	0.000586117	0	0
KIAA1199	57214	broad.mit.edu	37	15	81224217	81224217	+	Missense_Mutation	SNP	G	G	A	rs141395577		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:81224217G>A	ENST00000394685.3	+	22	3049	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G877E|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G877E|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	877								p.G877E(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAATTAGAGGAATTCAGTTA	0.473000													31	55					0	0	0.00283554	0	0
ZZEF1	23140	broad.mit.edu	37	17	3947590	3947590	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:3947590A>T	ENST00000381638.2	-	38	6218	c.6094T>A	c.(6094-6096)Tcg>Acg	p.S2032T		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2032							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGATCCTTCGATAATGATACA	0.393000													25	20					0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179498381	179498381	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179498381C>T	ENST00000589042.1	-	232	42929	c.42705G>A	c.(42703-42705)gtG>gtA	p.V14235V	TTN_ENST00000460472.2_Silent_p.V5170V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V12594V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.V5362V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V11667V|TTN_ENST00000359218.5_Silent_p.V5295V|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12594	Fibronectin type-III 3.						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)			CATGTAATTTCACAGTGAAGT	0.338000													14	21					0	0	0.00244969	0	0
LRG1	116844	broad.mit.edu	37	19	4538062	4538062	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:4538062G>A	ENST00000306390.6	-	2	1394	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	312	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGCCAACGATAGAGGTCG	0.592000													32	13					0	0	0.00209593	0	0
AKAP11	11215	broad.mit.edu	37	13	42875847	42875847	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:42875847C>T	ENST00000025301.2	+	8	3140	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	989					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCCAAATTTCCTGACTCTCA	0.403000													18	33					0	0	0.000566183	0	0
AOC1	26	broad.mit.edu	37	7	150553714	150553714	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:150553714G>A	ENST00000493429.1	+	4	740	c.156G>A	c.(154-156)aaG>aaA	p.K52K	AOC1_ENST00000416793.2_Silent_p.K52K|AOC1_ENST00000360937.4_Silent_p.K52K|AOC1_ENST00000467291.1_Silent_p.K52K					amine oxidase, copper containing 1																		GGTCCAAGAAGGAGCTGAGGC	0.582000													23	35					0	0	0.00047179	0	0
PACRGL	133015	broad.mit.edu	37	4	20728951	20728951	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:20728951C>T	ENST00000360916.5	+	8	1044	c.653C>T	c.(652-654)tCc>tTc	p.S218F	PACRGL_ENST00000295290.8_Missense_Mutation_p.S218F|PACRGL_ENST00000503585.1_Missense_Mutation_p.S245F|PACRGL_ENST00000502374.1_3'UTR|PACRGL_ENST00000444671.2_Missense_Mutation_p.S120F|PACRGL_ENST00000502938.1_Missense_Mutation_p.S84F|PACRGL_ENST00000513459.1_Missense_Mutation_p.S165F|PACRGL_ENST00000507634.1_Missense_Mutation_p.S218F|PACRGL_ENST00000538990.1_Missense_Mutation_p.S120F	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	245							binding			endometrium(2)|lung(7)|prostate(1)	10						ACATACTGCTCCATATGCTGT	0.368000													30	62					0	0	0.00127121	0	0
HOXD3	3232	broad.mit.edu	37	2	177036457	177036457	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:177036457G>A	ENST00000468418.3	+	4	2844	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HOXD3_ENST00000410016.1_Missense_Mutation_p.D252N|HOXD3_ENST00000249440.3_Missense_Mutation_p.D252N			P31249	HXD3_HUMAN	homeobox D3	252					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GTACAAGAAGGACCAGAAGGC	0.662000													15	44					0	0	0.00074312	0	0
PPM1L	151742	broad.mit.edu	37	3	160474204	160474204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:160474204G>A	ENST00000498165.1	+	1	209	c.108G>A	c.(106-108)tgG>tgA	p.W36*	PPM1L_ENST00000497343.1_Nonsense_Mutation_p.W36*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	36					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGGCTCTATGGAGTTACTTCT	0.542000													10	51					0	0	0.000442599	0	0
CRB1	23418	broad.mit.edu	37	1	197398663	197398663	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:197398663G>A	ENST00000367397.1	+	4	1762	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	CRB1_ENST00000367399.2_Missense_Mutation_p.A809T|CRB1_ENST00000544212.1_Missense_Mutation_p.A402T|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.A897T|CRB1_ENST00000367400.3_Missense_Mutation_p.A921T			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	921	EGF-like 8.				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						AAGTGGGAAAGCCTGTGAGGA	0.537000													33	44					0	0	0.0024448	0	0
OTOL1	131149	broad.mit.edu	37	3	161221535	161221535	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:161221535C>G	ENST00000327928.4	+	4	1239	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	413	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGAAGCAGTTCAAGTCCAGAG	0.473000													5	14					0	0	0.000157383	0	0
PGK2	5232	broad.mit.edu	37	6	49754580	49754580	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:49754580G>A	ENST00000304801.3	-	1	473	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	107					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGTTGGCACAGGCTTTCTCCA	0.507000													22	41					0	0	0.00188189	0	0
BIRC6	57448	broad.mit.edu	37	2	32724761	32724761	+	Silent	SNP	T	T	C	rs137947891		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:32724761T>C	ENST00000421745.2	+	46	8750	c.8616T>C	c.(8614-8616)acT>acC	p.T2872T		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2872					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTATATCACTTGCTCAGACA	0.433000													63	132					0	0	0.000781405	0	0
POTEC	388468	broad.mit.edu	37	18	14537894	14537894	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:14537894C>T	ENST00000358970.5	-	3	715	c.716G>A	c.(715-717)gGa>gAa	p.G239E	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	239										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGTGGTATTTCCATACTCATC	0.383000													35	76					0	0	0.00283554	0	0
DRD5	1816	broad.mit.edu	37	4	9784667	9784667	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:9784667G>A	ENST00000304374.2	+	1	1410	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	338					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCGTCAGTGAGACCACCTTCG	0.587000													34	42					0	0	0.00111076	0	0
NUCB1	4924	broad.mit.edu	37	19	49416361	49416361	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:49416361G>A	ENST00000405315.4	+	6	908	c.574G>A	c.(574-576)Gag>Aag	p.E192K	NUCB1_ENST00000407032.1_Missense_Mutation_p.E192K|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.E192K	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	192						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GCGTTATCTGGAGTCACTGGG	0.597000													27	51					0	0	0.001512	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011165	23011165	+	RNA	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:23011165C>T	ENST00000390304.2	+	0	266																											CCTCAGGGATCCCTGAGCGAT	0.562000													8	16					0	0	0.000442599	0	0
UBR4	23352	broad.mit.edu	37	1	19443892	19443892	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:19443892G>A	ENST00000375267.2	-	73	10649	c.10646C>T	c.(10645-10647)tCc>tTc	p.S3549F	UBR4_ENST00000375254.3_Missense_Mutation_p.S3549F|UBR4_ENST00000375226.2_Missense_Mutation_p.S3525F|UBR4_ENST00000375217.2_Missense_Mutation_p.S3542F|UBR4_ENST00000375218.3_5'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3549					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACTTTAATGGAAGACAGCTT	0.423000													32	50					0	0	0.000692331	0	0
RALGPS2	55103	broad.mit.edu	37	1	178846663	178846663	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:178846663A>T	ENST00000367635.3	+	9	976	c.638A>T	c.(637-639)gAt>gTt	p.D213V	RALGPS2_ENST00000367634.2_Missense_Mutation_p.D213V|RALGPS2_ENST00000324778.4_Missense_Mutation_p.D178V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	213	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACATACATCGATTCAGCATAC	0.333000													14	51					0	0	0.00074312	0	0
ATP13A4	84239	broad.mit.edu	37	3	193207525	193207525	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:193207525G>A	ENST00000342695.4	-	7	1054	c.732C>T	c.(730-732)ctC>ctT	p.L244L	ATP13A4_ENST00000295548.3_Silent_p.L244L|ATP13A4_ENST00000392443.3_Silent_p.L244L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	244					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCACCTCTCTGAGATCATATA	0.313000													66	117					0	0	0.000781405	0	0
DCAF6	55827	broad.mit.edu	37	1	168014467	168014467	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:168014467T>C	ENST00000367840.3	+	16	2352		c.e16+2		DCAF6_ENST00000312263.6_Splice_Site|DCAF6_ENST00000367843.3_Splice_Site|DCAF6_ENST00000432587.2_Splice_Site	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6						positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGGTGATAGGTTGGTAAATTT	0.418000													8	31					0	0	0.000157383	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325114	79325114	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:79325114G>A	ENST00000428286.1	-	8	2199	c.999C>T	c.(997-999)agC>agT	p.S333S	PRUNE2_ENST00000376718.3_Silent_p.S692S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	692					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATCAATGGAGCTTGGCTTAT	0.448000													6	5					0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	2836242	2836242	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:2836242C>T	ENST00000520002.1	-	56	9016	c.8461G>A	c.(8461-8463)Gga>Aga	p.G2821R	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2763R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2762R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2821R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2820R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2763R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2821	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATACTCATTCCATACTCAAAA	0.448000													5	16					0	0	0.000602214	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554606	42554606	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:42554606C>T	ENST00000381668.5	-	17	1666	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E464K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	479					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTAAGAAATTCACATATTATA	0.373000													34	41					0	0	0.00128727	0	0
C12orf36	283422	broad.mit.edu	37	12	13529288	13529288	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:13529288G>A	ENST00000318426.2	-	2	269	c.52C>T	c.(52-54)Cct>Tct	p.P18S	C12orf36_ENST00000539026.1_Missense_Mutation_p.P18S|C12orf36_ENST00000532841.1_Missense_Mutation_p.P18S|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.P18S					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		taaaaggcagggtgggaacag	0.433000													5	10					0	0	0.000602214	0	0
GPR84	53831	broad.mit.edu	37	12	54757305	54757305	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:54757305G>A	ENST00000551809.1	-	1	966	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.L111F			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						ATGAGGCAGAGGGTCAGGATG	0.572000													10	6					0	0	0.00136819	0	0
ENPEP	2028	broad.mit.edu	37	4	111397573	111397573	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:111397573G>A	ENST00000265162.5	+	1	345	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	1					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAGCAAAAATGAACTTTGCGG	0.408000													39	71					0	0	0.00222228	0	0
IDO2	169355	broad.mit.edu	37	8	39806781	39806781	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:39806781C>T	ENST00000502986.2	+	2	378	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Silent_p.L33L	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	33					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCCAGATTCTCTGGTAAGGAT	0.383000													4	5					0	0	0.00024832	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686458	108686458	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:108686458G>A	ENST00000312143.7	-	3	645	c.282C>T	c.(280-282)atC>atT	p.I94I	CMKLR1_ENST00000412676.1_Silent_p.I94I|CMKLR1_ENST00000397688.2_Silent_p.I92I|CMKLR1_ENST00000550402.1_Silent_p.I94I|CMKLR1_ENST00000552995.1_Silent_p.I92I	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	94					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|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						AGGTGATATGGATTGGGAGGA	0.493000													30	15					0	0	0.00058488	0	0
DYSF	8291	broad.mit.edu	37	2	71895914	71895914	+	Missense_Mutation	SNP	C	C	T	rs145832952		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:71895914C>T	ENST00000258104.3	+	48	5648	c.5371C>T	c.(5371-5373)Ccg>Tcg	p.P1791S	DYSF_ENST00000429174.2_Missense_Mutation_p.P1812S|DYSF_ENST00000394120.2_Missense_Mutation_p.P1792S|DYSF_ENST00000409582.3_Missense_Mutation_p.P1829S|DYSF_ENST00000410041.1_Missense_Mutation_p.P1809S|DYSF_ENST00000409744.1_Missense_Mutation_p.P1799S|DYSF_ENST00000410020.3_Missense_Mutation_p.P1830S|DYSF_ENST00000409762.1_Missense_Mutation_p.P1808S|DYSF_ENST00000409651.1_Missense_Mutation_p.P1823S|DYSF_ENST00000409366.1_Missense_Mutation_p.P1813S|DYSF_ENST00000413539.2_Missense_Mutation_p.P1822S|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1791						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.P1791S(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGACCTATTTCCGAAGGCCCT	0.617000													7	8					0	0	0.00198382	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68248162	68248162	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:68248162G>A	ENST00000347230.4	-	22	4595	c.4457C>T	c.(4456-4458)cCc>cTc	p.P1486L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1486L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1486					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGACTCCAGGGGCCACCTGTC	0.517000													32	32					0	0	0.000692331	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724353	38724353	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:38724353C>T	ENST00000342213.2	-	1	1221	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	292						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	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;0.00439)		GGTCGGCTGTCCTTCCCCACT	0.667000													18	18					0	0	0.00074312	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784432	27784432	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:27784432T>C	ENST00000261588.4	+	23	4230	c.4211T>C	c.(4210-4212)tTt>tCt	p.F1404S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1404										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATTTTCCAGTTTCAGCTTCTC	0.428000													14	13					0	0	0.000566183	0	0
NFASC	23114	broad.mit.edu	37	1	204948167	204948167	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:204948167C>T	ENST00000367172.4	+	18	2276	c.1948C>T	c.(1948-1950)Ccc>Tcc	p.P650S	NFASC_ENST00000360049.4_Missense_Mutation_p.P646S|NFASC_ENST00000404907.1_Missense_Mutation_p.P646S|NFASC_ENST00000338515.6_Missense_Mutation_p.P650S|NFASC_ENST00000513543.1_Missense_Mutation_p.P646S|NFASC_ENST00000338586.6_Missense_Mutation_p.P650S|NFASC_ENST00000367169.4_Missense_Mutation_p.P650S|NFASC_ENST00000539706.1_Missense_Mutation_p.P646S|NFASC_ENST00000339876.6_Missense_Mutation_p.P650S|NFASC_ENST00000404076.1_Missense_Mutation_p.P629S|NFASC_ENST00000367171.4_Missense_Mutation_p.P635S|NFASC_ENST00000367170.4_Missense_Mutation_p.P650S|NFASC_ENST00000401399.1_Missense_Mutation_p.P650S			O94856	NFASC_HUMAN	neurofascin	650	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GACCTGGATCCCCGGGGATGC	0.647000													3	3					0	0	0.00024832	0	0
GALNT5	11227	broad.mit.edu	37	2	158157217	158157217	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:158157217C>T	ENST00000259056.4	+	7	2630	c.2145C>T	c.(2143-2145)atC>atT	p.I715I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	715	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I715I(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAATTGAGATCATTCCCTGCT	0.438000													32	70					0	0	0.000814825	0	0
SLC26A3	1811	broad.mit.edu	37	7	107415298	107415298	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:107415298C>T	ENST00000340010.5	-	16	1881	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398000													35	50					0	0	0.00128727	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869567	151869567	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:151869567A>G	ENST00000329342.5	+	3	482	c.257A>G	c.(256-258)gAc>gGc	p.D86G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	86							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTATGAGGACTCCAGCAAC	0.572000													29	8					0	0	0.000953801	0	0
MGLL	11343	broad.mit.edu	37	3	127411046	127411046	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:127411046G>A	ENST00000434178.2	-	8	1803	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	MGLL_ENST00000398101.3_Missense_Mutation_p.P277S|MGLL_ENST00000453507.2_Missense_Mutation_p.P283S|MGLL_ENST00000265052.5_Missense_Mutation_p.P313S|MGLL_ENST00000398104.1_Missense_Mutation_p.P303S|MGLL_ENST00000476682.1_5'UTR			Q99685	MGLL_HUMAN	monoglyceride lipase	303					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TGCATTCAGGGTGGGGACGCA	0.532000													17	35					0	0	0.00074312	0	0
LRFN2	57497	broad.mit.edu	37	6	40359697	40359697	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:40359697C>T	ENST00000338305.6	-	3	2897	c.2355G>A	c.(2353-2355)atG>atA	p.M785I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	785						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGTGCTCTCCATCACCCATT	0.597000													11	26					0	0	0.00136819	0	0
PRKCB	5579	broad.mit.edu	37	16	24192196	24192196	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:24192196G>A	ENST00000303531.7	+	13	1632	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	PRKCB_ENST00000321728.7_Missense_Mutation_p.D494N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	494	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAACATCTGGGATGGGGTGAC	0.507000													34	47					0	0	0.00058488	0	0
NARFL	64428	broad.mit.edu	37	16	780930	780930	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:780930C>T	ENST00000540986.1	-	9	2234	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	NARFL_ENST00000568545.1_Missense_Mutation_p.G267S|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000301694.5_3'UTR|NARFL_ENST00000251588.2_Missense_Mutation_p.G369S			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	369					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TTGCGGAAGCCGTACGCCATT	0.607000													21	45					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179586730	179586730	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179586730C>T	ENST00000589042.1	-	78	22884	c.22660G>A	c.(22660-22662)Gag>Aag	p.E7554K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7237K|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6310K|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7237	Ig-like 57.						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)			GGACGGATCTCCTTGTTATCT	0.413000													62	118					0	0	0.000781405	0	0
SLC12A9	56996	broad.mit.edu	37	7	100460419	100460419	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100460419G>A	ENST00000354161.3	+	13	1953	c.1828G>A	c.(1828-1830)Gct>Act	p.A610T	SLC12A9_ENST00000540482.1_Missense_Mutation_p.A610T|SLC12A9_ENST00000415287.1_Missense_Mutation_p.A521T|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A521T|SLC12A9_ENST00000428758.1_Missense_Mutation_p.A610T	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	610						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCGCCAGGGGGCTCAGCATCT	0.637000													19	53					0	0	0.00229938	0	0
PLXND1	23129	broad.mit.edu	37	3	129276010	129276010	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:129276010G>A	ENST00000324093.4	-	34	5680	c.5502C>T	c.(5500-5502)atC>atT	p.I1834I	PLXND1_ENST00000504689.1_5'UTR|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1834					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCGCTGCACGATCTTCCGGT	0.587000													13	38					0	0	0.00244969	0	0
KMT2C	58508	broad.mit.edu	37	7	151917674	151917674	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:151917674C>T	ENST00000355193.2	-	23	3864	c.3646G>A	c.(3646-3648)Gtc>Atc	p.V1216I	KMT2C_ENST00000262189.6_Missense_Mutation_p.V1216I					lysine (K)-specific methyltransferase 2C																		GTCTGAAGGACGGCCACGCTA	0.398000													12	41					0	0	0.00244969	0	0
EVPL	2125	broad.mit.edu	37	17	74004741	74004741	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:74004741C>T	ENST00000301607.3	-	22	4798	c.4545G>A	c.(4543-4545)caG>caA	p.Q1515Q	EVPL_ENST00000586740.1_Silent_p.Q1537Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1515	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGTCTTCTCCTGCGATTTGG	0.597000													59	54					0	0	0.000781405	0	0
KNOP1	400506	broad.mit.edu	37	16	19726325	19726325	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:19726325C>T	ENST00000219837.7	-	2	111	c.33G>A	c.(31-33)ggG>ggA	p.G11G	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		TCTCTGGGAGCCCAAGGTCTA	0.378000													33	51					0	0	0.00128727	0	0
TNXB	7148	broad.mit.edu	37	6	32026065	32026065	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:32026065C>T	ENST00000375244.3	-	22	7796	c.7595G>A	c.(7594-7596)gGa>gAa	p.G2532E	TNXB_ENST00000375247.2_Missense_Mutation_p.G2532E			P22105	TENX_HUMAN	tenascin XB	2592	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGAGGATCCTGTCACTGT	0.672000													89	98					0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141264470	141264470	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:141264470C>T	ENST00000389484.3	-	53	9387	c.8416G>A	c.(8416-8418)Gat>Aat	p.D2806N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2806	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATTTTCATCACATGTATTA	0.378000										TSP Lung(27;0.18)			21	55					0	0	0.00047179	0	0
HEPH	9843	broad.mit.edu	37	X	65427071	65427071	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:65427071C>T	ENST00000519389.1	+	14	2667	c.2488C>T	c.(2488-2490)Ctc>Ttc	p.L830F	HEPH_ENST00000343002.2_Missense_Mutation_p.L776F|HEPH_ENST00000441993.2_Missense_Mutation_p.L779F|HEPH_ENST00000374727.3_Missense_Mutation_p.L779F|HEPH_ENST00000419594.1_Missense_Mutation_p.L587F|HEPH_ENST00000336279.5_Missense_Mutation_p.L509F			Q9BQS7	HEPH_HUMAN	hephaestin	776	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAAGGATGGGCTCCTGGGTTC	0.448000													18	8					0	0	0.00229938	0	0
COLQ	8292	broad.mit.edu	37	3	15498005	15498005	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:15498005G>A	ENST00000383788.5	-	14	1161	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Silent_p.L312L|COLQ_ENST00000383787.2_Silent_p.L337L|COLQ_ENST00000435459.2_Silent_p.L336L|COLQ_ENST00000383781.4_Silent_p.L336L|COLQ_ENST00000603808.1_Silent_p.L346L	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	346					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TTGAAGTACAGAGATCTCTGG	0.537000													25	15					0	0	0.001512	0	0
CSMD1	64478	broad.mit.edu	37	8	3216769	3216769	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:3216769G>A	ENST00000520002.1	-	22	3767	c.3212C>T	c.(3211-3213)tCc>tTc	p.S1071F	CSMD1_ENST00000602723.1_Missense_Mutation_p.S1071F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1071F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1071F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1071	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGAAGCAGGAAAACGTCAG	0.557000													29	20					0	0	0.00178596	0	0
PRODH2	58510	broad.mit.edu	37	19	36303435	36303435	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36303435G>A	ENST00000301175.3	-	3	443	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	142					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGAGCCCAGGAGTCGCCGAG	0.647000													15	11					0	0	0.000422831	0	0
PKP2	5318	broad.mit.edu	37	12	32996156	32996156	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:32996156C>T	ENST00000070846.6	-	6	1494	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	490					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					acctcgtgatccgcccgcctt	0.547000													10	14					0	0	0.000442599	0	0
AGXT2	64902	broad.mit.edu	37	5	35010173	35010173	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:35010173C>T	ENST00000231420.6	-	12	1470	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	424					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATTTCAAATTCATCCCGCAGC	0.438000													35	68					0	0	0.000814825	0	0
MRPS26	64949	broad.mit.edu	37	20	3026876	3026876	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:3026876C>T	ENST00000380325.3	+	1	286	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	54					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						CGGAGTTCTTCGTGCTGATGG	0.711000													14	24					0	0	0.000422831	0	0
TMEM119	338773	broad.mit.edu	37	12	108985890	108985890	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:108985890G>A	ENST00000392806.3	-	2	438	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	90						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACTGGCGGAAGAAGTCCACTA	0.632000													10	11					0	0	0.00185496	0	0
PLRG1	5356	broad.mit.edu	37	4	155461993	155461993	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:155461993G>A	ENST00000499023.2	-	9	907	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	PLRG1_ENST00000393905.2_Silent_p.L261L|PLRG1_ENST00000302078.5_Silent_p.L252L	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	261						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CAAGAGAACAGATATGGGCTC	0.403000													30	59					0	0	0.00209593	0	0
SMYD1	150572	broad.mit.edu	37	2	88402627	88402627	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:88402627G>A	ENST00000419482.2	+	7	1024	c.939G>A	c.(937-939)ttG>ttA	p.L313L	SMYD1_ENST00000444564.2_Silent_p.L300L|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGATACATTGGAAAAGATAG	0.458000													36	55					0	0	0.00148497	0	0
PRKD2	25865	broad.mit.edu	37	19	47178312	47178312	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:47178312G>A	ENST00000433867.1	-	18	2879	c.2402C>T	c.(2401-2403)tCt>tTt	p.S801F	PRKD2_ENST00000291281.4_Missense_Mutation_p.S801F|PRKD2_ENST00000600194.1_Missense_Mutation_p.S644F|PRKD2_ENST00000601806.1_Missense_Mutation_p.S644F|PRKD2_ENST00000595515.1_Missense_Mutation_p.S811F|DACT3-AS1_ENST00000525008.1_RNA	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	801	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTGGCTGAGAGATTTGTCCAC	0.562000													6	12					0	0	0.000157383	0	0
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:20248579C>T	ENST00000315957.4	+	1	179	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTCTATCCTTCTATTTG	0.413000													13	167					0	0	0.000308642	0	0
NKG7	4818	broad.mit.edu	37	19	51875654	51875654	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:51875654C>T	ENST00000221978.5	-	1	315	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	NKG7_ENST00000595217.1_Missense_Mutation_p.G46R|NKG7_ENST00000600427.1_Missense_Mutation_p.G46R	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	46						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCCATGCCCTGTTGGCCAG	0.587000													28	60					0	0	0.00178596	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748170	19748170	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:19748170C>T	ENST00000400113.3	-	5	1290	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	396					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			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)		TACATGAGATCGAACTTATGG	0.642000													19	55					0	0	0.000720815	0	0
HPS3	84343	broad.mit.edu	37	3	148857936	148857936	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:148857936C>T	ENST00000296051.2	+	2	503	c.363C>T	c.(361-363)ttC>ttT	p.F121F	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	121						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCAAAGCCTTCAGAGACCAGA	0.463000									Hermansky-Pudlak syndrome				65	91					0	0	0.000781405	0	0
MYNN	55892	broad.mit.edu	37	3	169496853	169496853	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:169496853C>T	ENST00000349841.5	+	3	1227	c.564C>T	c.(562-564)tcC>tcT	p.S188S	MYNN_ENST00000356716.4_Silent_p.S188S|MYNN_ENST00000392733.1_Silent_p.S188S|MYNN_ENST00000544106.1_Silent_p.S188S|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTTTCAACTCCCCGAAAACAG	0.398000													14	39					0	0	0.00244969	0	0
FCGBP	8857	broad.mit.edu	37	19	40397968	40397968	+	Splice_Site	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:40397968A>T	ENST00000221347.6	-	14	7006	c.7000_splice	c.e14+1	p.C2333_splice		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2333	Cys-rich.					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)			AGTACTCACGACAGAAGTCCG	0.652000													14	34					0	0	0.00121646	0	0
LILRA1	11024	broad.mit.edu	37	19	55107226	55107226	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55107226G>A	ENST00000251372.3	+	6	966	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	262	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TAAGGAGGGAGAACGTGACTT	0.612000													29	52					0	0	0.00283554	0	0
RGPD3	653489	broad.mit.edu	37	2	107040826	107040826	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:107040826C>T	ENST00000409886.3	-	20	3684	c.3597G>A	c.(3595-3597)aaG>aaA	p.K1199K	RGPD3_ENST00000304514.7_Silent_p.K1199K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1199					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCAGTCCACTCTTCATTTCTT	0.433000													59	81					0	0	0.000781405	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967395	106967395	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:106967395G>A	ENST00000390622.2	-	0	350																											CCTCTAAACTGGAAAAAATCC	0.567000													38	23					0	0	0.000814825	0	0
TMEM169	92691	broad.mit.edu	37	2	216965042	216965042	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:216965042C>T	ENST00000454545.1	+	4	997	c.671C>T	c.(670-672)tCc>tTc	p.S224F	TMEM169_ENST00000406027.2_Missense_Mutation_p.S224F|TMEM169_ENST00000295658.4_Missense_Mutation_p.S224F|TMEM169_ENST00000437356.2_Missense_Mutation_p.S224F	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	224						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCTTCTTCCCTCGGCCTC	0.562000													35	89					0	0	0.00111076	0	0
OR51G2	81282	broad.mit.edu	37	11	4936071	4936071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:4936071G>A	ENST00000322013.3	-	1	851	c.823C>T	c.(823-825)Cac>Tac	p.H275Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGACCAGGTGGGGTGCCTGC	0.512000													26	38					0	0	0.000878237	0	0
APCS	325	broad.mit.edu	37	1	159558342	159558342	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:159558342G>A	ENST00000255040.2	+	2	613	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	172	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TTGTGGGAGAGATTGGGGATT	0.532000													22	24					0	0	0.00229938	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249953	219249953	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:219249953G>A	ENST00000233202.6	+	4	697	c.357G>A	c.(355-357)aaG>aaA	p.K119K	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	119					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAGGCAAGGACTTGGGCG	0.622000													15	60					0	0	0.000308642	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628759	41628759	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:41628759G>A	ENST00000331105.2	+	7	927	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	285					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACTTCCACATGGATACCCTGC	0.567000													10	23					0	0	0.00136819	0	0
MSLNL	401827	broad.mit.edu	37	16	824237	824237	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:824237A>T	ENST00000293892.3	-	9	1918	c.1919T>A	c.(1918-1920)tTc>tAc	p.F640Y	MSLNL_ENST00000442466.1_Missense_Mutation_p.F289Y			Q96KJ4	MSLNL_HUMAN	mesothelin-like	289					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGACTCCAGGAAGCTGGTGAC	0.677000													4	9					0	0	0.000602214	0	0
ABCD2	225	broad.mit.edu	37	12	39980071	39980071	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:39980071C>T	ENST00000308666.3	-	7	1810	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	559	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATGACTTGATCCCGAAGACTT	0.398000													31	14					0	0	0.0024448	0	0
ABCB4	5244	broad.mit.edu	37	7	87037460	87037460	+	Missense_Mutation	SNP	C	C	G	rs140387595	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:87037460C>G	ENST00000265723.4	-	25	3283	c.3172G>C	c.(3172-3174)Gag>Cag	p.E1058Q	ABCB4_ENST00000545634.1_Missense_Mutation_p.E1058Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1011Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1058Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1011Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1058	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCTTCACCTCCAGGCTCAGC	0.532000													25	40					0	0	0.00278032	0	0
C6	729	broad.mit.edu	37	5	41149356	41149356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:41149356C>T	ENST00000263413.3	-	17	2874	c.2610G>A	c.(2608-2610)tgG>tgA	p.W870*	C6_ENST00000337836.5_Nonsense_Mutation_p.W870*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	870	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AACATTTTTCCCAGTCATAGC	0.423000													95	152					0	0	0.000781405	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899729	128899729	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:128899729G>A	ENST00000435159.2	+	2	538	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	180						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGAAACCAGAGAGGTGCGGGG	0.642000													5	2					0	0	0.00116845	0	0
CACNA1E	777	broad.mit.edu	37	1	181686335	181686335	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:181686335A>C	ENST00000526775.1	+	11	1587	c.1422A>C	c.(1420-1422)aaA>aaC	p.K474N	CACNA1E_ENST00000358338.5_Missense_Mutation_p.K425N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.K474N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.K474N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.K474N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K425N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.K81N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	474					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACATGGTTAAATCCCAGGTGT	0.542000													7	79					0	0	0.000442599	0	0
MGAM	8972	broad.mit.edu	37	7	141762434	141762434	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:141762434G>A	ENST00000475668.2	+	35	4243	c.4189G>A	c.(4189-4191)Gaa>Aaa	p.E1397K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1397K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1397	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)	GTGGAAGAGGGAAATAGAAGA	0.408000													15	18					0	0	0.00047179	0	0
TDRD5	163589	broad.mit.edu	37	1	179631372	179631372	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:179631372G>A	ENST00000444136.1	+	15	2706	c.2456G>A	c.(2455-2457)aGc>aAc	p.S819N	TDRD5_ENST00000294848.8_Missense_Mutation_p.S765N|TDRD5_ENST00000367614.1_Missense_Mutation_p.S765N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	810					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTACTGCAAGCCTTGGTGGA	0.448000													9	43					0	0	0.000978159	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737367	74737367	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:74737367T>G	ENST00000370895.1	+	7	757	c.722T>G	c.(721-723)aTt>aGt	p.I241S	TNNI3K_ENST00000326637.3_Missense_Mutation_p.I140S|TNNI3K_ENST00000370891.2_Missense_Mutation_p.I241S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.I241S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.I241S			Q59H18	TNI3K_HUMAN		140						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GCCCTCCATATTGCTACAATA	0.428000													43	80					0	0	0.0025221	0	0
IL1RAP	3556	broad.mit.edu	37	3	190322008	190322008	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:190322008C>T	ENST00000412504.2	+	3	408	c.156C>T	c.(154-156)caC>caT	p.H52H	IL1RAP_ENST00000072516.3_Silent_p.H52H|IL1RAP_ENST00000443369.2_Silent_p.H52H|IL1RAP_ENST00000422485.1_Silent_p.H52H|IL1RAP_ENST00000447382.1_Silent_p.H52H|IL1RAP_ENST00000317757.3_Silent_p.H52H|IL1RAP_ENST00000439062.1_Silent_p.H52H|IL1RAP_ENST00000422940.1_Silent_p.H52H|IL1RAP_ENST00000434491.1_Intron			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	52	Ig-like C2-type 1.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TCTTTGAACACTTCTTGAAAT	0.493000													11	41					0	0	0.00136819	0	0
AREL1	9870	broad.mit.edu	37	14	75143345	75143345	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:75143345G>A	ENST00000356357.4	-	6	1107	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TTGTTGGTGGGATTATCATAC	0.448000													9	88					0	0	0.000442599	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751332	26751332	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:26751332G>A	ENST00000396641.2	+	2	761	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LRRC3B_ENST00000456208.2_Missense_Mutation_p.E57K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.E57K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	57	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAATCTCAAGGAAATACCTAG	0.413000													27	16					0	0	0.0024448	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513203	106513203	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:106513203A>T	ENST00000359195.3	+	4	2417	c.2107A>T	c.(2107-2109)Ata>Tta	p.I703L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.I703L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.I703L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	703					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAGAAGTGAGATAGCCCAGTC	0.448000													33	55					0	0	0.00148497	0	0
PPHLN1	51535	broad.mit.edu	37	12	42839994	42839994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:42839994C>T	ENST00000432191.2	+	11	1252	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Nonsense_Mutation_p.Q323*|PPHLN1_ENST00000395568.2_Nonsense_Mutation_p.Q418*	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	418					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		gaagacaactcaggaggctga	0.547000													4	5					0	0	0.00024832	0	0
APCS	325	broad.mit.edu	37	1	159558294	159558294	+	Silent	SNP	G	G	A	rs41317511		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:159558294G>A	ENST00000255040.2	+	2	565	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	156	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GGCAGGAACAGGATTCCTATG	0.493000													15	28					0	0	0.000308642	0	0
GFRAL	389400	broad.mit.edu	37	6	55223796	55223796	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:55223796G>A	ENST00000340465.2	+	6	898	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	271						integral to membrane	receptor activity			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)			ACTTGTTCAGGAAGTGATGAC	0.433000													50	69					0	0	0.000781405	0	0
KIFC1	3833	broad.mit.edu	37	6	33371517	33371517	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:33371517C>T	ENST00000428849.2	+	6	817	c.367C>T	c.(367-369)Cct>Tct	p.P123S	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	123					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ATCAGGTGTTCCTCCCATGGC	0.498000													23	17					0	0	0.00047179	0	0
XIST	7503	broad.mit.edu	37	X	73064337	73064337	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:73064337G>A	ENST00000429829.1	-	0	8251					NR_001564.2																						ATTCAAATAGGATAAGCCATG	0.428000													27	6					0	0	0.00127121	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647421	33647421	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:33647421G>A	ENST00000558425.1	-	2	178	c.179C>T	c.(178-180)cCa>cTa	p.P60L																								TCCCTTCCCTGGAGCCTGGCG	0.552000													75	149					0	0	0.000781405	0	0
STON2	85439	broad.mit.edu	37	14	81736942	81736942	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:81736942G>A	ENST00000267540.2	-	5	2885	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	895					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGGCTAAAAGGAATAAGAGGG	0.468000													48	70					0	0	0.000781405	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841986	100841986	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100841986G>A	ENST00000223114.4	-	4	580	c.414C>T	c.(412-414)ttC>ttT	p.F138F	MOGAT3_ENST00000440203.2_Silent_p.F138F|MOGAT3_ENST00000379423.3_Silent_p.F138F	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	138					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGAGCCCCGGGAAGAGCTGGG	0.597000													21	33					0	0	0.00047179	0	0
HIP1R	9026	broad.mit.edu	37	12	123334490	123334490	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:123334490C>T	ENST00000253083.4	+	5	551	c.426C>T	c.(424-426)tcC>tcT	p.S142S		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	142	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAAGATCTCCTTCCACCTCA	0.577000													23	9					0	0	0.000878237	0	0
KCTD21	283219	broad.mit.edu	37	11	77885399	77885399	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:77885399G>A	ENST00000340067.3	-	2	480	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	68	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGCAGGTCAAGGTGGGAGGTC	0.602000													13	24					0	0	0.00136819	0	0
SSX9	280660	broad.mit.edu	37	X	48159065	48159065	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:48159065C>T	ENST00000376909.1	-	6	529		c.e6+1		SSX9_ENST00000407081.2_Splice_Site																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						ATTTCCTCTTCCCAGATGCCT	0.532000													56	20					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82579037	82579037	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:82579037G>A	ENST00000423517.2	-	6	11204	c.10867C>T	c.(10867-10869)Ctt>Ttt	p.L3623F	PCLO_ENST00000437081.1_Missense_Mutation_p.L343F|PCLO_ENST00000333891.8_Missense_Mutation_p.L3623F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3554					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAGTAAAGGACTTTGGGG	0.478000													31	55					0	0	0.0024448	0	0
EIF4E	1977	broad.mit.edu	37	4	99806186	99806186	+	Silent	SNP	A	A	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:99806186A>G	ENST00000450253.2	-	6	1950	c.426T>C	c.(424-426)ttT>ttC	p.F142F	EIF4E_ENST00000504432.1_Silent_p.F170F|EIF4E_ENST00000280892.6_Silent_p.F162F|EIF4E_ENST00000505992.1_Silent_p.F173F	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	142					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TGTAGTCATCAAAAGATTCTC	0.338000													12	14					0	0	0.00136819	0	0
DEPDC1	55635	broad.mit.edu	37	1	68955286	68955286	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:68955286G>A	ENST00000456315.2	-	3	434	c.320C>T	c.(319-321)cCt>cTt	p.P107L	DEPDC1_ENST00000370966.5_Missense_Mutation_p.P107L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	107	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CGAAGTTGCAGGAAATCTGGT	0.289000													20	46					0	0	0.00152264	0	0
GSPT2	23708	broad.mit.edu	37	X	51488475	51488475	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:51488475C>T	ENST00000340438.4	+	1	1995	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	585					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATGCATTGCTCGTTTAAGGAC	0.423000													28	9					0	0	0.00209593	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243589849	243589849	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:243589849G>A	ENST00000366541.3	+	16	2092	c.1974G>A	c.(1972-1974)acG>acA	p.T658T	SDCCAG8_ENST00000355875.4_Silent_p.T615T|SDCCAG8_ENST00000343783.6_Silent_p.T513T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	658	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TACATGAGACGATGAAGCAAA	0.393000													22	25					0	0	0.000586117	0	0
KIF21B	23046	broad.mit.edu	37	1	200960786	200960786	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:200960786T>G	ENST00000332129.2	-	17	2769	c.2454_splice	c.e17+1	p.E818_splice	KIF21B_ENST00000422435.2_Splice_Site_p.E818_splice|KIF21B_ENST00000461742.2_Splice_Site_p.E818_splice|KIF21B_ENST00000360529.5_Splice_Site_p.E818_splice	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	818					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGAGCTCACCTCCTGGGTCTT	0.607000													14	13					0	0	0.000308642	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275579	233275579	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:233275579G>A	ENST00000258229.8	-	20	3774	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.F313F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1180						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)				AGAGTCTTTCGAACCACATTA	0.323000													13	40					0	0	0.000308642	0	0
NLRP10	338322	broad.mit.edu	37	11	7984936	7984936	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:7984936G>A	ENST00000328600.2	-	1	268	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	36	DAPIN.						ATP binding	p.T36I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAGACAGGGTCATATCCCG	0.537000													21	38					0	0	0.00278032	0	0
MGAM	8972	broad.mit.edu	37	7	141719039	141719039	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:141719039G>A	ENST00000475668.2	+	4	422	c.368G>A	c.(367-369)gGa>gAa	p.G123E	MGAM_ENST00000549489.2_Missense_Mutation_p.G123E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	123	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G123E(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATCCCCAGGGAGCTGTAAGT	0.453000													44	81					0	0	0.000680045	0	0
TBC1D32	221322	broad.mit.edu	37	6	121481218	121481218	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:121481218G>A	ENST00000275159.6	-	25	2833	c.2834C>T	c.(2833-2835)tCa>tTa	p.S945L	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.S904L					TBC1 domain family, member 32																		TGGATATGATGAAAACATTGG	0.303000													45	44					0	0	0.000781405	0	0
FLG	2312	broad.mit.edu	37	1	152282477	152282477	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152282477C>T	ENST00000368799.1	-	3	4920	c.4885G>A	c.(4885-4887)Ggc>Agc	p.G1629S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1629	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)			TTCCTGGAGCCATGTCTTGAC	0.552000									Ichthyosis				49	102					0	0	0.000781405	0	0
CCDC7	221016	broad.mit.edu	37	10	32856725	32856725	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:32856725C>T	ENST00000362006.5	+	16	1868	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	CCDC7_ENST00000277657.6_Missense_Mutation_p.S442L|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	442										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GGTGAAGATTCAAAAAATATA	0.348000													25	15					0	0	0.000586117	0	0
TENM4	26011	broad.mit.edu	37	11	78423616	78423616	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:78423616G>A	ENST00000278550.7	-	26	4427	c.3965C>T	c.(3964-3966)gCg>gTg	p.A1322V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ACCTGTCCCCGCAACCACCTC	0.577000													45	64					0	0	0.000781405	0	0
ZNF184	7738	broad.mit.edu	37	6	27424695	27424695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:27424695G>A	ENST00000211936.6	-	5	492	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.Q70*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTAGAAACTTGGAGTCCTGTT	0.418000													32	41					0	0	0.00283554	0	0
CNGB3	54714	broad.mit.edu	37	8	87616424	87616424	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:87616424C>T	ENST00000320005.5	-	15	1725	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	560					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATATACATTTCCTTGCCAATT	0.338000													15	31					0	0	0.000308642	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801501	44801501	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:44801501C>T	ENST00000309315.4	+	11	1716	c.1593C>T	c.(1591-1593)tgC>tgT	p.C531C	ZMIZ2_ENST00000441627.1_Silent_p.C531C|ZMIZ2_ENST00000433667.1_Silent_p.C499C|ZMIZ2_ENST00000413916.1_Silent_p.C473C|ZMIZ2_ENST00000265346.7_Silent_p.C505C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	531					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCGCCTGCTGCTGCGTGCGTG	0.706000													8	23					0	0	0.000274275	0	0
KCNN3	3782	broad.mit.edu	37	1	154698412	154698412	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:154698412C>T	ENST00000271915.3	-	5	1996	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	KCNN3_ENST00000358505.2_Missense_Mutation_p.D248N|KCNN3_ENST00000361147.4_Missense_Mutation_p.D256N	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	566						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGCTGAGTGTCCATCATGAAG	0.572000													8	33					0	0	0.000157383	0	0
ZNF425	155054	broad.mit.edu	37	7	148802061	148802061	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:148802061G>A	ENST00000378061.2	-	4	1034	c.902C>T	c.(901-903)cCg>cTg	p.P301L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	301					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCAGCAGAACGGCCGCTCCCC	0.672000													10	19					0	0	0.000673444	0	0
ROS1	6098	broad.mit.edu	37	6	117714445	117714445	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:117714445C>T	ENST00000368508.3	-	11	1402	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E411K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	402					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAGTAATTTCCTCGATGTTT	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								155	85					0	0	0.000781405	0	0
RDX	5962	broad.mit.edu	37	11	110134695	110134695	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:110134695G>A	ENST00000343115.4	-	5	776	c.457C>T	c.(457-459)Cta>Tta	p.L153L	RDX_ENST00000528498.1_Silent_p.L153L|RDX_ENST00000544551.1_Intron|RDX_ENST00000405097.1_Silent_p.L153L|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Silent_p.L121L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	153	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CGCTGGGGTAGGAGTCTATCA	0.358000													16	13					0	0	0.00074312	0	0
XRCC1	7515	broad.mit.edu	37	19	44047642	44047642	+	Missense_Mutation	SNP	G	G	A	rs137950555		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:44047642G>A	ENST00000262887.5	-	17	2351	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S	XRCC1_ENST00000543982.1_Missense_Mutation_p.P571S			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	602	BRCT 2.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCCAGGGAGGGGTTGTCCATC	0.582000								Other BER factors					25	47					0	0	0.00106085	0	0
SPATC1	375686	broad.mit.edu	37	8	145095179	145095179	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:145095179C>T	ENST00000377470.3	+	2	683	c.581C>T	c.(580-582)tCt>tTt	p.S194F	SPATC1_ENST00000447830.2_Missense_Mutation_p.S194F	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	194										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGCTGTCTCTCTGAGCAGC	0.667000													14	26					0	0	0.000566183	0	0
DCHS2	54798	broad.mit.edu	37	4	155278420	155278420	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:155278420C>T	ENST00000357232.3	-	6	750	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	251	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttcattacttccttgtctgct	0.438000													45	73					0	0	0.000680045	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003354	23003354	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:23003354G>A	ENST00000312584.3	-	5	657	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	188					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTTCCCAGTGGAACTGGCAGC	0.522000													46	45					0	0	0.000781405	0	0
ZNF212	7988	broad.mit.edu	37	7	148947573	148947573	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:148947573C>T	ENST00000335870.2	+	2	476	c.348C>T	c.(346-348)aaC>aaT	p.N116N		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ACGTGGAGAACCTGCTGCGCA	0.612000													58	80					0	0	0.000781405	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554476	20554476	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:20554476C>T	ENST00000329697.6	-	11	1558	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACSM2B_ENST00000565322.1_Missense_Mutation_p.D385N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.D464N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	464					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.D464N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAATGATATCATCTGCCCGT	0.507000													75	228					0	0	0.000781405	0	0
OR4N2	390429	broad.mit.edu	37	14	20296197	20296197	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:20296197T>A	ENST00000315947.1	+	1	590	c.590T>A	c.(589-591)cTt>cAt	p.L197H	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTGGAGCTTCTGATGGTC	0.527000													23	50					0	0	0.00188189	0	0
SEL1L2	80343	broad.mit.edu	37	20	13869134	13869134	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:13869134C>T	ENST00000284951.5	-	6	648	c.574G>A	c.(574-576)Gga>Aga	p.G192R	SEL1L2_ENST00000378072.5_Missense_Mutation_p.G192R|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	192						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTCCTATTCCATAAGAAGAC	0.274000													17	34					0	0	0.00188189	0	0
FAM49A	81553	broad.mit.edu	37	2	16742506	16742506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:16742506G>A	ENST00000381323.3	-	8	773	c.553C>T	c.(553-555)Cga>Tga	p.R185*	FAM49A_ENST00000355549.2_Nonsense_Mutation_p.R185*|FAM49A_ENST00000406434.1_Nonsense_Mutation_p.R185*	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	185						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGGGACATTCGATTGGCCATC	0.403000													46	80					0	0	0.000781405	0	0
ANPEP	290	broad.mit.edu	37	15	90348422	90348422	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:90348422G>A	ENST00000300060.6	-	4	1097	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	262	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTCCAGTTGGGGTCTTCTGGA	0.607000													39	84					0	0	0.000680045	0	0
ITFG3	83986	broad.mit.edu	37	16	304619	304619	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:304619C>T	ENST00000399932.3	+	3	658	c.207C>T	c.(205-207)gtC>gtT	p.V69V	ITFG3_ENST00000600536.1_Silent_p.V69V|ITFG3_ENST00000301678.3_Silent_p.V69V|ITFG3_ENST00000301679.2_Silent_p.V69V|ITFG3_ENST00000450082.2_Silent_p.V69V|ITFG3_ENST00000442458.2_Silent_p.V69V			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	69						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCTCATTCGTCATCCCGTGTC	0.607000													79	126					0	0	0.000781405	0	0
EPG5	57724	broad.mit.edu	37	18	43435618	43435618	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:43435618G>A	ENST00000282041.5	-	43	7511	c.7477C>T	c.(7477-7479)Ctt>Ttt	p.L2493F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2493					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGAACTGAAAGGAAGGCAGCC	0.453000													13	11					0	0	0.000566183	0	0
LILRB4	11006	broad.mit.edu	37	19	55179408	55179408	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55179408C>A	ENST00000391736.1	+	14	1600	c.1285C>A	c.(1285-1287)Cca>Aca	p.P429T	LILRB4_ENST00000391733.3_Missense_Mutation_p.P430T|LILRB4_ENST00000430952.2_Missense_Mutation_p.P428T|LILRB4_ENST00000270452.2_Missense_Mutation_p.P429T|LILRB4_ENST00000391734.3_Missense_Mutation_p.P376T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	429						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGAGCCTCCTCCATCCCAGGA	0.622000													24	47					1.32143e-28	5.9195e-28	0.00106085	1	0
HTR5A	3361	broad.mit.edu	37	7	154862641	154862641	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:154862641C>T	ENST00000287907.2	+	1	608	c.32C>T	c.(31-33)tCc>tTc	p.S11F	AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	11						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACCTCCTTTTCCCTCTCCACC	0.597000													33	49					0	0	0.00111076	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:228882709C>T	ENST00000392056.3	-	7	2907	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G954E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	954						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTTTTCCACTGGAGTT	0.493000													29	54					0	0	0.0024448	0	0
RGS7	6000	broad.mit.edu	37	1	240975228	240975228	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:240975228C>T	ENST00000366565.1	-	14	1453	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	RGS7_ENST00000446183.2_Missense_Mutation_p.E274K|RGS7_ENST00000366563.1_Missense_Mutation_p.E358K|RGS7_ENST00000331110.7_Missense_Mutation_p.E332K|RGS7_ENST00000407727.1_Missense_Mutation_p.E358K|RGS7_ENST00000348120.2_Missense_Mutation_p.E305K|RGS7_ENST00000401882.1_Missense_Mutation_p.E305K|RGS7_ENST00000366562.4_Missense_Mutation_p.E358K|RGS7_ENST00000366564.1_Missense_Mutation_p.E358K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	358	RGS.				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			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)			CTTAAATTTTCCGAGCTGAAT	0.398000													34	27					0	0	0.000814825	0	0
PDE1A	5136	broad.mit.edu	37	2	183129112	183129112	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:183129112C>T	ENST00000435564.1	-	2	331	c.131G>A	c.(130-132)aGa>aAa	p.R44K	PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.R44K|PDE1A_ENST00000351439.5_Missense_Mutation_p.R28K|PDE1A_ENST00000456212.1_Missense_Mutation_p.R44K|PDE1A_ENST00000331935.6_Missense_Mutation_p.R44K|PDE1A_ENST00000409365.1_Missense_Mutation_p.R28K|PDE1A_ENST00000410103.1_Missense_Mutation_p.R44K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	44	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AACATCACCTCTTTCCAGCTG	0.363000													29	43					0	0	0.001512	0	0
P2RX6	9127	broad.mit.edu	37	22	21377663	21377663	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:21377663C>T	ENST00000413302.2	+	7	886	c.738C>T	c.(736-738)ctC>ctT	p.L246L	P2RX6_ENST00000401443.1_Silent_p.L220L|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Silent_p.L236L|P2RX6_ENST00000443995.3_Silent_p.L193L			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	246					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TTGGGGACCTCGTGGCCAAGG	0.627000													16	31					0	0	0.000566183	0	0
GFRA1	2674	broad.mit.edu	37	10	118029037	118029037	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:118029037G>A	ENST00000439649.3	-	4	763	c.396C>T	c.(394-396)ttC>ttT	p.F132F	GFRA1_ENST00000355422.6_Silent_p.F132F|GFRA1_ENST00000369236.1_Silent_p.F132F	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	132					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGACCACCCGGAATATATCTG	0.418000													14	9					0	0	0.000422831	0	0
NTF3	4908	broad.mit.edu	37	12	5603428	5603428	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:5603428C>T	ENST00000423158.3	+	2	299	c.87C>T	c.(85-87)atC>atT	p.I29I	NTF3_ENST00000331010.6_Silent_p.I16I|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	16					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TCCGTGGCATCCAAGGTAACA	0.418000													18	49					0	0	0.000958276	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259840	40259840	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:40259840C>T	ENST00000263791.5	+	9	1356	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T438I|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T438I	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	438	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCAGAAGGCACCGTCAAGATT	0.478000													28	28					0	0	0.000720815	0	0
SYK	6850	broad.mit.edu	37	9	93629429	93629429	+	Missense_Mutation	SNP	G	G	A	rs143341039		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:93629429G>A	ENST00000375754.4	+	7	1011	c.863G>A	c.(862-864)gGa>gAa	p.G288E	SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.G288E	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	288	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCAGCGGGTGGAATAATCTCA	0.443000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								48	32					0	0	0.000781405	0	0
MTUS2	23281	broad.mit.edu	37	13	29600708	29600708	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:29600708G>A	ENST00000431530.3	+	1	1961	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	625						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAAACAGAGGAGAGGACAGA	0.537000													15	21					0	0	0.000422831	0	0
HCN1	348980	broad.mit.edu	37	5	45462025	45462025	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:45462025C>T	ENST00000303230.4	-	3	991	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	312						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D312N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGACAACCATCCCAGTGGCAC	0.413000													19	18					0	0	0.00121646	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259841	40259841	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:40259841C>T	ENST00000263791.5	+	9	1357	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	EIF2AK4_ENST00000382727.2_Silent_p.T438T|EIF2AK4_ENST00000559624.1_Silent_p.T438T	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	438	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CAGAAGGCACCGTCAAGATTA	0.483000													27	26					0	0	0.000586117	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616580	77616580	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:77616580C>T	ENST00000521891.2	+	2	705	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A86V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A86V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A86V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A86V(1)		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)			AACGAATGTGCCACTTCTTTT	0.507000										HNSCC(33;0.089)			48	95					0	0	0.000781405	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333652	47333652	+	RNA	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47333652C>T	ENST00000505841.1	-	0	1036					NR_002788.2																						TAGGAGTTCCCTGATTTCATC	0.428000													4	13					0	0	0.000602214	0	0
NKTR	4820	broad.mit.edu	37	3	42679340	42679340	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:42679340C>T	ENST00000232978.8	+	13	2332	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	715	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTAGCTAGTTCACATTCAAGG	0.378000													40	25					0	0	0.000781405	0	0
PCSK5	5125	broad.mit.edu	37	9	78803520	78803520	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:78803520C>T	ENST00000545128.1	+	18	2847	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F	PCSK5_ENST00000376752.4_Missense_Mutation_p.S770F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	770	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCTCTGTCTCCTGTGAAGAT	0.517000													24	13					0	0	0.00106085	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825284	111825284	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:111825284G>A	ENST00000369743.4	+	0	1073					NR_003928.1																						TGACGGGCTGGACTTTGACTG	0.517000													22	25					0	0	0.00047179	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475286	50475286	+	RNA	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:50475286G>A	ENST00000602139.1	+	0	1232									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						AATGGAGCACGAAGGAGAGTT	0.677000													12	21					0	0	0.00136819	0	0
LRBA	987	broad.mit.edu	37	4	151203748	151203748	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:151203748C>T	ENST00000535741.1	-	55	8643	c.8170G>A	c.(8170-8172)Gag>Aag	p.E2724K	LRBA_ENST00000510413.1_Missense_Mutation_p.E2723K|LRBA_ENST00000357115.3_Missense_Mutation_p.E2735K|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2735						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCAGGACCCTCCAAGGTCCTC	0.408000													41	72					0	0	0.00285205	0	0
NAV3	89795	broad.mit.edu	37	12	78400287	78400287	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:78400287C>T	ENST00000397909.2	+	8	1142	c.969C>T	c.(967-969)atC>atT	p.I323I	NAV3_ENST00000228327.6_Silent_p.I323I|NAV3_ENST00000266692.7_Silent_p.I323I|NAV3_ENST00000536525.2_Silent_p.I323I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	323						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTCTGCCATCCCTTCTCCAA	0.532000										HNSCC(70;0.22)			33	21					0	0	0.0024448	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579560	140579560	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:140579560G>A	ENST00000354757.3	+	1	213	c.213G>A	c.(211-213)aaG>aaA	p.K71K	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		71	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATGATAAGAAACAGCGTT	0.527000													49	18					0	0	0.000781405	0	0
TRIM61	391712	broad.mit.edu	37	4	165891010	165891010	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:165891010C>T	ENST00000329314.5	-	3	757	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	49						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GGGAAACTATCATGTAGATCC	0.463000													15	71					0	0	0.000422831	0	0
CCDC132	55610	broad.mit.edu	37	7	92978050	92978050	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:92978050C>T	ENST00000544910.1	+	25	2365	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	CCDC132_ENST00000305866.5_Silent_p.F745F|CCDC132_ENST00000541136.1_Silent_p.F556F|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.F465F	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	745										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTTTGAGTTCCTTCAGCCAC	0.413000													31	72					0	0	0.000692331	0	0
GRK1	6011	broad.mit.edu	37	13	114322079	114322079	+	Silent	SNP	G	G	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:114322079G>A	ENST00000335678.6	+	1	610	c.378G>A	c.(376-378)ctG>ctA	p.L126L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	126	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCAGCTTCCTGGATGAGGGGA	0.617000													4	13					0	0	0.00024832	0	0
MARK1	4139	broad.mit.edu	37	1	220789325	220789325	+	Silent	SNP	C	C	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:220789325C>T	ENST00000402574.1	+	7	1137	c.135C>T	c.(133-135)caC>caT	p.H45H	MARK1_ENST00000366918.4_Silent_p.H158H|MARK1_ENST00000366917.4_Silent_p.H180H	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	180					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACATTGTTCACCGTGATCTTA	0.259000													38	91					0	0	0.0025221	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		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)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				9	35	---	---	---	---					
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	RNA	INS	-	-	TG			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252													2	4	---	---	---	---					
KRT8P40	100418728	broad.mit.edu	37	2	178063145	178063168	+	RNA	DEL	TGGGCTCCAGCTTTGGCTCTGGCG	TGGGCTCCAGCTTTGGCTCTGGCG	-			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG	ENST00000455416.1	-	0	166																											AGCTACGGCCTGGGCTCCAGCTTTGGCTCTGGCGTGGGCTCCAG	0.598													2	4	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57663166	57663167	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:57663166_57663167delGA	ENST00000402412.1	-	16	2043_2044	c.1653_1654delTC	c.(1651-1656)tcacfs	p.SH551fs	R3HDM2_ENST00000413953.2_Frame_Shift_Del_p.SH264fs|R3HDM2_ENST00000393811.2_Frame_Shift_Del_p.SH264fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Frame_Shift_Del_p.SH232fs|R3HDM2_ENST00000403821.2_Frame_Shift_Del_p.SH571fs|R3HDM2_ENST00000358907.2_Frame_Shift_Del_p.SH537fs|R3HDM2_ENST00000347140.3_Frame_Shift_Del_p.SH537fs			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	537	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCACCGGGTGAGAGAGAGGTC	0.525													26	32	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72763868	72763869	+	RNA	INS	-	-	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:72763868_72763869insA	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAAA	0.436													3	4	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													2	4	---	---	---	---					
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000438934.1	+	0	394				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA																							TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411													3	3	---	---	---	---					
