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
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:181726163C>T	ENST00000526775.1	+	29	4338	c.4173C>T	c.(4171-4173)ttC>ttT	p.F1391F	CACNA1E_ENST00000357570.5_Silent_p.F1361F|CACNA1E_ENST00000367570.1_Silent_p.F1410F|CACNA1E_ENST00000360108.3_Silent_p.F1391F|CACNA1E_ENST00000367573.2_Silent_p.F1410F|CACNA1E_ENST00000367567.4_Silent_p.F1017F|CACNA1E_ENST00000358338.5_Silent_p.F1342F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1410					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						TTGTGGTCTTCCCCTTCTTCT	0.488000													23	86					0	0	0.001882	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333197	33333197	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:33333197G>A	ENST00000023064.4	-	11	1292	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	SLC7A9_ENST00000587772.1_Silent_p.I367I|SLC7A9_ENST00000590341.1_Silent_p.I367I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	367					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGTCACCAGGGATGATATAAA	0.393000													21	69					0	0	0.002780	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059398	152059398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152059398G>A	ENST00000368806.1	-	3	824	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	254							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTCCTTCCTGTTCTCCAAAC	0.443000													14	188					0	0	0.000743	0	0
HERC1	8925	broad.mit.edu	37	15	63955362	63955362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:63955362G>A	ENST00000443617.2	-	44	8809	c.8722C>T	c.(8722-8724)Cgg>Tgg	p.R2908W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2908					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						CCTTCTCTCCGACTTTGATTC	0.403000													27	229					0	0	0.001786	0	0
DMBT1	1755	broad.mit.edu	37	10	124336089	124336089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:124336089G>A	ENST00000368909.3	+	7	564	c.458G>A	c.(457-459)gGa>gAa	p.G153E	DMBT1_ENST00000359586.6_Missense_Mutation_p.G153E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G153E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G153E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G153E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G153E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G153E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	153	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCTCCAGGAAATGCCTGG	0.612000													37	123					0	0	0.000815	0	0
ZNF180	7733	broad.mit.edu	37	19	44982298	44982298	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:44982298C>A	ENST00000221327.4	-	5	681	c.400G>T	c.(400-402)Gct>Tct	p.A134S	ZNF180_ENST00000592529.1_Missense_Mutation_p.A107S|ZNF180_ENST00000391956.4_Missense_Mutation_p.A109S|ZNF180_ENST00000586637.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	134	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ACTCCATTAGCTGGTTCTTCA	0.373000													10	79					2.17888e-05	0.000106733	0.000443	1	0
PCDH15	65217	broad.mit.edu	37	10	55582494	55582494	+	Silent	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:55582494A>G	ENST00000361849.3	-	34	5392	c.4998T>C	c.(4996-4998)ttT>ttC	p.F1666F	PCDH15_ENST00000437009.1_Silent_p.F1595F|PCDH15_ENST00000395430.1_Silent_p.F1661F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Silent_p.F1664F|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Silent_p.F1641F|PCDH15_ENST00000395432.2_Silent_p.F1624F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1664					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGGCCTGGGAAAGCAAAATG	0.413000										HNSCC(58;0.16)			17	54					0	0	0.000566	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393464	145393464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:145393464C>T	ENST00000511217.1	+	4	951	c.899C>T	c.(898-900)tCc>tTc	p.S300F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S300F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	300							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCAGTTTTCCATCACAACA	0.577000													12	74					0	0	0.002450	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482452	152482452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:152482452G>A	ENST00000356661.5	-	3	777	c.559C>T	c.(559-561)Cag>Tag	p.Q187*		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	187	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGATCTGATTATCACCC	0.542000													25	54					0	0	0.000721	0	0
OR2T10	127069	broad.mit.edu	37	1	248756553	248756553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:248756553C>T	ENST00000330500.2	-	1	547	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TGCTGAATCTCATGGGATCTG	0.502000													21	80					0	0	0.002299	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:38948707G>A	ENST00000216024.2	-	7	661	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_ENST00000428462.2_Missense_Mutation_p.R129C	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination					17	128					0	0	0.000743	0	0
GDI1	2664	broad.mit.edu	37	X	153668320	153668320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:153668320C>T	ENST00000447750.2	+	5	756	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	141					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGGCGCTTCCGCAAGTTCCT	0.552000													65	130					0	0	0.000781	0	0
RASSF2	9770	broad.mit.edu	37	20	4766926	4766926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:4766926G>A	ENST00000379400.3	-	11	1057	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	RASSF2_ENST00000379376.2_Nonsense_Mutation_p.Q288*|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	288	SARAH.				cell cycle|signal transduction	nucleus	protein binding	p.Q288E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGGAGCTTCTGAATGAAGCTT	0.498000													36	251					0	0	0.000692	0	0
CHN1	1123	broad.mit.edu	37	2	175676295	175676295	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:175676295T>A	ENST00000409900.3	-	10	1221	c.908A>T	c.(907-909)tAc>tTc	p.Y303F	CHN1_ENST00000295497.7_Missense_Mutation_p.Y178F|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.Y119F|CHN1_ENST00000409156.3_Missense_Mutation_p.Y277F	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	303	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGATACTCGGTATAGTCCTTC	0.348000			T	TAF15	extraskeletal myxoid chondrosarcoma								5	48					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113348948	113348948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:113348948C>T	ENST00000297405.5	-	44	7196	c.6952G>A	c.(6952-6954)Ggg>Agg	p.G2318R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2248R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2214R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2278R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2318	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGCCATTCCCAGGGGGTACT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	145					0	0	0.002096	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186430	37186430	+	RNA	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:37186430C>T	ENST00000425901.2	+	0	272					NR_033753.2																						ATGAGAACCCCTCTCCAACCC	0.542000													9	77					0	0	0.000443	0	0
NRG3	10718	broad.mit.edu	37	10	84738844	84738844	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:84738844G>A	ENST00000372142.2	+	9	1162	c.888G>A	c.(886-888)agG>agA	p.R296R	NRG3_ENST00000556918.1_Silent_p.R347R|NRG3_ENST00000537893.1_Silent_p.R167R|NRG3_ENST00000404547.1_Silent_p.R517R|NRG3_ENST00000404576.2_Silent_p.R321R|NRG3_ENST00000372141.2_Silent_p.R517R|NRG3_ENST00000545131.1_Silent_p.R167R	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	517	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGAATCAAGGATCCCAGACC	0.478000													10	44					0	0	0.000673	0	0
CACNG2	10369	broad.mit.edu	37	22	36960604	36960604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:36960604C>T	ENST00000300105.6	-	4	1747	c.766G>A	c.(766-768)Ggc>Agc	p.G256S		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	256					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCTTGATGCCCACGGGGGAG	0.682000													28	105					0	0	0.001786	0	0
XIST	7503	broad.mit.edu	37	X	73065748	73065748	+	RNA	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:73065748G>A	ENST00000429829.1	-	0	6840					NR_001564.2																						GGGCCTTGGTGATCAGCACCC	0.507000													28	57					0	0	0.002096	0	0
DPYD	1806	broad.mit.edu	37	1	98039396	98039396	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:98039396T>A	ENST00000370192.3	-	11	1359	c.1259A>T	c.(1258-1260)aAt>aTt	p.N420I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	420					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCATCTTCATTCCATTTTCC	0.453000													16	120					0	0	0.000566	0	0
ALK	238	broad.mit.edu	37	2	29436869	29436869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:29436869C>T	ENST00000389048.3	-	24	4630	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1242	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGTGGTTTTCCTCCAAATAC	0.572000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				9	61					0	0	0.000443	0	0
OR10C1	442194	broad.mit.edu	37	6	29408667	29408667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:29408667G>A	ENST00000444197.2	+	1	1585	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TACAGCCTGCGGAACACAGAG	0.542000													8	139					0	0	0.000673	0	0
ABCC11	85320	broad.mit.edu	37	16	48218385	48218385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:48218385G>A	ENST00000394747.1	-	22	3573	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	ABCC11_ENST00000394748.1_Missense_Mutation_p.S1075F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S1075F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S1075F|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1075	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACTTTAAAGGAGTAGGGGGT	0.557000													15	59					0	0	0.000309	0	0
COL5A2	1290	broad.mit.edu	37	2	189927767	189927767	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:189927767T>G	ENST00000374866.3	-	28	2166	c.1892A>C	c.(1891-1893)gAa>gCa	p.E631A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	631					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)			ATTTCCTGCTTCTCCAGGTTT	0.363000													10	167					0	0	0.001368	0	0
ATR	545	broad.mit.edu	37	3	142231206	142231206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:142231206G>A	ENST00000350721.4	-	27	4869	c.4748C>T	c.(4747-4749)tCc>tTc	p.S1583F	ATR_ENST00000383101.3_Missense_Mutation_p.S1519F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1583					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTCAAGCATGGAGAACACAGT	0.428000								Other conserved DNA damage response genes					18	104					0	0	0.000743	0	0
LALBA	3906	broad.mit.edu	37	12	48962902	48962902	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:48962902G>A	ENST00000549817.1	-	2	300	c.255C>T	c.(253-255)gtC>gtT	p.V85V	LALBA_ENST00000301046.2_Silent_p.V85V			P00709	LALBA_HUMAN	lactalbumin, alpha-	85					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TTGACTGAGGGACCTGGCTGC	0.468000													12	107					0	0	0.000978	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		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.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			35	164					1.04594e-18	5.20032e-18	0.001287	1	0
ZNF638	27332	broad.mit.edu	37	2	71576199	71576199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:71576199C>T	ENST00000409544.1	+	2	745	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	ZNF638_ENST00000355812.3_Missense_Mutation_p.L39F|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.L39F|ZNF638_ENST00000377802.2_Missense_Mutation_p.L39F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	39					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATCTATGGGTCTCCCAAGATT	0.498000													12	100					0	0	0.000978	0	0
OR5M11	219487	broad.mit.edu	37	11	56310098	56310098	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:56310098G>A	ENST00000528616.2	-	1	659	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACACCAAGACGATGGTGAGGG	0.502000													7	46					0	0	0.001984	0	0
UBR4	23352	broad.mit.edu	37	1	19518857	19518857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:19518857G>A	ENST00000375267.2	-	11	1222	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*	UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q407*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q407*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q407*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	407					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)		CCCAGCAATTGGAAATTCTGA	0.428000													22	96					0	0	0.002780	0	0
MAP7	9053	broad.mit.edu	37	6	136704811	136704811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:136704811C>T	ENST00000354570.3	-	6	1045	c.635G>A	c.(634-636)aGa>aAa	p.R212K	MAP7_ENST00000432797.2_Missense_Mutation_p.R66K|MAP7_ENST00000454590.1_Missense_Mutation_p.R234K|MAP7_ENST00000544465.1_Missense_Mutation_p.R197K|MAP7_ENST00000438100.2_Intron	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	212					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GACTGTACCTCTATCTGGAGA	0.373000													12	48					0	0	0.001855	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097910	56097910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:56097910G>A	ENST00000394555.2	-	10	1700	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	EFEMP1_ENST00000355426.3_Missense_Mutation_p.T422I|EFEMP1_ENST00000394554.1_Missense_Mutation_p.T422I|EFEMP1_ENST00000424836.2_Missense_Mutation_p.T284I	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	422	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTATTGATGGTGTTGGCATA	0.418000													12	71					0	0	0.000978	0	0
DNAH3	55567	broad.mit.edu	37	16	20976501	20976501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:20976501G>A	ENST00000261383.3	-	53	8704	c.8705C>T	c.(8704-8706)gCt>gTt	p.A2902V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2902	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGTTTGGGAGCCACCACCTT	0.582000													36	112					0	0	0.000585	0	0
TIAM2	26230	broad.mit.edu	37	6	155450804	155450804	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:155450804C>T	ENST00000461783.3	+	6	1720	c.447C>T	c.(445-447)tcC>tcT	p.S149S	TIAM2_ENST00000456144.1_Silent_p.S149S|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.S149S|TIAM2_ENST00000529824.2_Silent_p.S149S|TIAM2_ENST00000360366.4_Silent_p.S149S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	149					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCATTGCCTCCACCCCACCGG	0.577000													10	26					0	0	0.001368	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518385	161518385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:161518385C>T	ENST00000367969.3	-	3	436	c.253G>A	c.(253-255)Gga>Aga	p.G85R	FCGR3A_ENST00000540048.1_Missense_Mutation_p.G49R|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G84R|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G49R	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	49	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGTAGGCTCCCTGGCACTTC	0.537000													27	238					0	0	0.001271	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888782	51888782	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:51888782C>T	ENST00000453097.2	+	21	3040	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F	SLC4A8_ENST00000358657.3_Silent_p.F968F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	941					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCCAGATTTCATCTACCTGC	0.527000													14	94					0	0	0.000423	0	0
KSR2	283455	broad.mit.edu	37	12	118405883	118405883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:118405883C>T	ENST00000425217.1	-	1	145	c.91G>A	c.(91-93)Gag>Aag	p.E31K	KSR2_ENST00000339824.5_Missense_Mutation_p.E60K	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	60					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACCTACCTCCAGGGTCCGG	0.453000													12	168					0	0	0.001368	0	0
ATP9B	374868	broad.mit.edu	37	18	77063667	77063667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:77063667C>T	ENST00000426216.2	+	14	1492	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A492V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	492					ATP biosynthetic process	integral to 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)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCCTATGGCGCCGACACGATG	0.542000													11	70					0	0	0.002450	0	0
USP43	124739	broad.mit.edu	37	17	9631343	9631343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:9631343C>T	ENST00000570827.2	+	15	2549	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	USP43_ENST00000570475.1_Missense_Mutation_p.S798F|USP43_ENST00000285199.6_Missense_Mutation_p.S803F			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	803					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCACCACTTCCCGAGCCAAG	0.567000													4	40					0	0	0.001168	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182873317	182873317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:182873317G>A	ENST00000367547.3	-	8	1821	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Nonsense_Mutation_p.Q410*	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	601										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGAAATACCTGGGCGCCAGTT	0.358000													13	61					0	0	0.002450	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450602	105450602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:105450602G>A	ENST00000337685.2	+	5	1962	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	MUM1L1_ENST00000372552.1_Missense_Mutation_p.G393R|MUM1L1_ENST00000357175.2_Missense_Mutation_p.G393R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	393	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTTTGAAACAGGAATGATAGT	0.368000													7	24					0	0	0.001984	0	0
FAM83D	81610	broad.mit.edu	37	20	37580865	37580865	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:37580865T>C	ENST00000217429.4	+	4	1591	c.1550T>C	c.(1549-1551)gTg>gCg	p.V517A		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	487					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)				CAAGGCTCTGTGGCAAGCTCC	0.517000													11	55					0	0	0.000673	0	0
NMUR2	56923	broad.mit.edu	37	5	151784537	151784537	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:151784537G>A	ENST00000255262.3	-	1	303	c.138C>T	c.(136-138)ctC>ctT	p.L46L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	46					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGACACGGGGAGGAAGAAGT	0.547000													6	48					0	0	0.001984	0	0
SLFN13	146857	broad.mit.edu	37	17	33769237	33769237	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:33769237G>C	ENST00000285013.6	-	5	1542	c.1267C>G	c.(1267-1269)Cta>Gta	p.L423V	SLFN13_ENST00000526861.1_Missense_Mutation_p.L423V|SLFN13_ENST00000360502.2_Missense_Mutation_p.L105V|SLFN13_ENST00000542635.1_Missense_Mutation_p.L423V|SLFN13_ENST00000533791.1_Missense_Mutation_p.L423V|SLFN13_ENST00000534689.1_Missense_Mutation_p.L105V	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	423						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACTCCTTTAGTCCTTCATGC	0.463000													7	57					0	0	0.000274	0	0
OR1K1	392392	broad.mit.edu	37	9	125563091	125563091	+	Silent	SNP	C	C	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:125563091C>A	ENST00000277309.2	+	1	722	c.690C>A	c.(688-690)ccC>ccA	p.P230P		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P230P(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCCAGCTGCCCTCAGCCTCTG	0.637000													5	55					0.000602214	0.00293912	0.000602	1	0
KCNG4	93107	broad.mit.edu	37	16	84271028	84271028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:84271028G>A	ENST00000568181.1	-	2	184	c.64C>T	c.(64-66)Cct>Tct	p.P22S	KCNG4_ENST00000308251.4_Missense_Mutation_p.P22S			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	22						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGACTCCAAGGGCTGTGGGAA	0.627000													9	56					0	0	0.000673	0	0
STRC	161497	broad.mit.edu	37	15	43892249	43892249	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:43892249G>A	ENST00000450892.2	-	28	5225	c.5148C>T	c.(5146-5148)gtC>gtT	p.V1716V	STRC_ENST00000541030.1_Silent_p.V943V	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1716					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCAGGAGTGACAGCCACAG	0.547000													8	41					0	0	0.000443	0	0
MYH15	22989	broad.mit.edu	37	3	108158647	108158647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:108158647C>T	ENST00000273353.3	-	25	3128	c.3072G>A	c.(3070-3072)atG>atA	p.M1024I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1024						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTCCTCCTCCATGTGCAGGT	0.483000													12	135					0	0	0.000978	0	0
C18orf25	147339	broad.mit.edu	37	18	43842988	43842988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:43842988G>A	ENST00000282059.6	+	5	1493	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	C18orf25_ENST00000321319.6_Nonsense_Mutation_p.W312*	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	373										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						CACAGTCATGGACTGCTGTGA	0.502000													9	58					0	0	0.000274	0	0
RAD54L2	23132	broad.mit.edu	37	3	51669622	51669622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:51669622C>T	ENST00000409535.1	+	9	1281	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R80C	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	386	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GATGGCATCTCGTGCTAAAGT	0.458000													17	39					0	0	0.001882	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417175	150417175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:150417175G>A	ENST00000307194.5	+	3	223	c.83G>A	c.(82-84)cGg>cAg	p.R28Q		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.R28Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGTCCACGCGGAGGCTCATC	0.557000													19	279					0	0	0.002780	0	0
MAPK3	5595	broad.mit.edu	37	16	30129473	30129473	+	Silent	SNP	G	G	A	rs143182888		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:30129473G>A	ENST00000484663.1	-	3	1346	c.213C>T	c.(211-213)ttC>ttT	p.F71F	MAPK3_ENST00000395202.1_Silent_p.F185F|MAPK3_ENST00000395199.3_Silent_p.F185F|MAPK3_ENST00000403394.1_Silent_p.F185F|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000263025.4_Silent_p.F185F|MAPK3_ENST00000322266.5_Silent_p.F185F			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	185	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGGCCAGGCCGAAATCACAAA	0.592000													8	27					0	0	0.000443	0	0
KANK4	163782	broad.mit.edu	37	1	62740733	62740733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:62740733C>T	ENST00000371153.4	-	3	421	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	15										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCTTTCTCTTCATCCCCCTGA	0.438000													24	129					0	0	0.001271	0	0
CD300A	11314	broad.mit.edu	37	17	72469802	72469802	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:72469802C>T	ENST00000360141.3	+	2	456	c.168C>T	c.(166-168)ttC>ttT	p.F56F	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	56	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CACAGATTTTCCTATGTGACA	0.557000													6	72					0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	96962944	96962944	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:96962944T>G	ENST00000389672.5	+	5	1457	c.1419T>G	c.(1417-1419)tgT>tgG	p.C473W	EPHA6_ENST00000470610.2_Missense_Mutation_p.C473W	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	378	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGCCAGTGTGAGGACTGTG	0.468000													4	61					0	0	0.000248	0	0
MRC2	9902	broad.mit.edu	37	17	60742070	60742070	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:60742070C>T	ENST00000303375.5	+	2	682	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	94	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CATGCAGTGCCTGGGCACAGG	0.617000													6	70					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179560875	179560875	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179560875C>T	ENST00000589042.1	-	114	31148	c.30924G>A	c.(30922-30924)aaG>aaA	p.K10308K	TTN_ENST00000342992.6_Silent_p.K9064K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.K9991K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9991	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)			CTCTCTTCTCCTTGTGGACTG	0.378000													4	8					0	0	0.000248	0	0
GPR98	84059	broad.mit.edu	37	5	89940674	89940674	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:89940674C>T	ENST00000405460.2	+	15	2982	c.2886C>T	c.(2884-2886)tcC>tcT	p.S962S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	962	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATTTACTCCCTTCCAGATG	0.313000													5	67					0	0	0.000602	0	0
TARBP1	6894	broad.mit.edu	37	1	234586267	234586267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:234586267G>A	ENST00000040877.1	-	10	1767	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	590					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTACACGTAGGGGATGGCTTA	0.358000													23	86					0	0	0.000586	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854512	79854512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:79854512G>A	ENST00000338682.3	-	5	1999	c.1327C>T	c.(1327-1329)Caa>Taa	p.Q443*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	443						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGTCTGGTTTGGGTAACACTG	0.453000													9	117					0	0	0.000978	0	0
USP43	124739	broad.mit.edu	37	17	9631342	9631342	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:9631342T>C	ENST00000570827.2	+	15	2548	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	USP43_ENST00000570475.1_Missense_Mutation_p.S798P|USP43_ENST00000285199.6_Missense_Mutation_p.S803P			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	803					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACCCACCACTTCCCGAGCCAA	0.562000													4	40					0	0	0.001168	0	0
MUSK	4593	broad.mit.edu	37	9	113449458	113449458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:113449458G>A	ENST00000416899.2	+	3	394	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	MUSK_ENST00000374448.4_Missense_Mutation_p.E90K|MUSK_ENST00000189978.5_Missense_Mutation_p.E90K|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	90	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGAGTGTGGAAGACAGTGA	0.522000													17	122					0	0	0.000743	0	0
DNAJB2	3300	broad.mit.edu	37	2	220146740	220146740	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:220146740C>T	ENST00000336576.5	+	5	597	c.309C>T	c.(307-309)ttC>ttT	p.F103F	DNAJB2_ENST00000392086.4_Silent_p.F103F|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	103					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTCTTCCGGGAATTCT	0.592000													16	54					0	0	0.000566	0	0
MYO18B	84700	broad.mit.edu	37	22	26422411	26422411	+	Splice_Site	SNP	G	G	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26422411G>C	ENST00000335473.7	+	43	6721	c.6470_splice	c.e43-1	p.R2157_splice	MYO18B_ENST00000407587.2_Splice_Site_p.R2158_splice|MYO18B_ENST00000536101.1_Splice_Site_p.R2157_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2157						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						CTTGGCACAGGATAAACGAAG	0.488000													37	179					0	0	0.001706	0	0
KRT15	3866	broad.mit.edu	37	17	39671762	39671762	+	Silent	SNP	G	G	A	rs142117852	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:39671762G>A	ENST00000254043.3	-	6	4794	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	KRT15_ENST00000393981.3_Silent_p.I238I|KRT15_ENST00000393974.3_Silent_p.I238I|KRT15_ENST00000393976.2_Silent_p.I403I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	403	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTAAGTAGCGATCTCCTGCT	0.607000													7	81					0	0	0.000274	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840442	1840442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:1840442G>A	ENST00000331238.5	-	2	692	c.674C>T	c.(673-675)aCc>aTc	p.T225I		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	225					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GAGGAAGAGGGTGGTCAGCCT	0.652000													5	18					0	0	0.001984	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504939	95504939	+	Silent	SNP	G	G	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:95504939G>C	ENST00000297591.5	-	21	4824	c.4749C>G	c.(4747-4749)acC>acG	p.T1583T	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1583					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGTAGTCTTGGTTCTTCCTG	0.368000													10	124					0	0	0.001368	0	0
ABCC4	10257	broad.mit.edu	37	13	95858840	95858840	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:95858840G>A	ENST00000376887.4	-	8	1221	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.F294F|ABCC4_ENST00000431522.1_Silent_p.F369F|ABCC4_ENST00000412704.1_Silent_p.F369F	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	369	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGGCTGAGGGGAAGAAGAGGG	0.547000													7	77					0	0	0.001984	0	0
IGFL2	147920	broad.mit.edu	37	19	46664099	46664099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:46664099C>T	ENST00000434646.2	+	4	626	c.335C>T	c.(334-336)tCc>tTc	p.S112F	IGFL2_ENST00000377693.4_Missense_Mutation_p.S101F|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	101						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GGTGTGAATTCCCAGTGCCAC	0.562000													8	73					0	0	0.000157	0	0
PROKR2	128674	broad.mit.edu	37	20	5283226	5283226	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:5283226C>T	ENST00000546004.1	-	3	861	c.615G>A	c.(613-615)aaG>aaA	p.K205K	PROKR2_ENST00000217270.3_Silent_p.K205K			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	205						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CACAGAAGATCTTCTCCTGGC	0.512000										HNSCC(71;0.22)			18	116					0	0	0.000958	0	0
ANAPC1	64682	broad.mit.edu	37	2	112582574	112582574	+	Silent	SNP	A	A	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:112582574A>C	ENST00000341068.3	-	24	3553	c.2781T>G	c.(2779-2781)gcT>gcG	p.A927A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	927					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCAATCTTTCAGCTAGACTAG	0.373000													19	225					0	0	0.002780	0	0
ADCY8	114	broad.mit.edu	37	8	131826335	131826335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:131826335C>T	ENST00000286355.5	-	14	4985	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E834K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	965					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGGTCCTTCTCTAGGAAATGG	0.522000										HNSCC(32;0.087)			17	74					0	0	0.001523	0	0
DNM1L	10059	broad.mit.edu	37	12	32866276	32866276	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:32866276T>C	ENST00000452533.2	+	6	754	c.590T>C	c.(589-591)cTt>cCt	p.L197P	DNM1L_ENST00000381000.4_Missense_Mutation_p.L210P|DNM1L_ENST00000553257.1_Missense_Mutation_p.L210P|DNM1L_ENST00000547312.1_Missense_Mutation_p.L197P|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000358214.5_Missense_Mutation_p.L210P|DNM1L_ENST00000266481.6_Missense_Mutation_p.L197P|DNM1L_ENST00000549701.1_Missense_Mutation_p.L197P	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	197	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGAGGCACTTAAAATTTCA	0.368000													17	81					0	0	0.000423	0	0
CNGB3	54714	broad.mit.edu	37	8	87666270	87666270	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:87666270C>T	ENST00000320005.5	-	7	920	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	291					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						TGTAGTGTTTCCTTAGCTCAT	0.289000													12	81					0	0	0.000309	0	0
SARDH	1757	broad.mit.edu	37	9	136573510	136573510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:136573510G>A	ENST00000371872.4	-	11	1626	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	SARDH_ENST00000439388.1_Nonsense_Mutation_p.R457*|SARDH_ENST00000422262.2_Nonsense_Mutation_p.R289*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	457					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTTCGCTCTCGGATCCAGCGG	0.657000													7	109					0	0	0.000274	0	0
THEMIS2	9473	broad.mit.edu	37	1	28209071	28209071	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:28209071G>A	ENST00000373921.3	+	4	1240	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.E283E	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		AGTGCAAAGAGGAGGCAGAGA	0.627000													4	42					0	0	0.000248	0	0
SYNJ2	8871	broad.mit.edu	37	6	158502225	158502225	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:158502225C>T	ENST00000355585.4	+	19	2727	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	SYNJ2_ENST00000367121.3_Silent_p.F884F|SYNJ2_ENST00000367122.2_Silent_p.F884F|SYNJ2_ENST00000367112.1_5'UTR	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	884							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGTCCTCCTTCCAGGGCCCCC	0.532000													11	72					0	0	0.001368	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933650	22933650	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:22933650T>C	ENST00000313077.7	+	7	784	c.659T>C	c.(658-660)aTc>aCc	p.I220T	CYFIP1_ENST00000560848.1_Missense_Mutation_p.I220T	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	220					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CATAACAAGATCACACAGGTA	0.522000													6	66					0	0	0.000157	0	0
FSTL5	56884	broad.mit.edu	37	4	162697113	162697113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:162697113G>A	ENST00000306100.5	-	5	959	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	FSTL5_ENST00000379164.4_Missense_Mutation_p.R174W|FSTL5_ENST00000427802.2_Missense_Mutation_p.R174W|FSTL5_ENST00000536695.1_Missense_Mutation_p.R174W	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	175	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGCTTCTTCCGAGATATGTCG	0.303000													24	100					0	0	0.001061	0	0
CES5A	221223	broad.mit.edu	37	16	55880368	55880368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:55880368G>A	ENST00000521992.1	-	14	1955	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.P469S|CES5A_ENST00000290567.9_Missense_Mutation_p.P575S|CES5A_ENST00000319165.9_Missense_Mutation_p.P525S|CES5A_ENST00000520435.1_Missense_Mutation_p.P545S	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	575						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACTTCTCAAGGAGCACAAAAG	0.468000													15	65					0	0	0.002450	0	0
OPCML	4978	broad.mit.edu	37	11	132290109	132290109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:132290109G>A	ENST00000331898.7	-	7	1594	c.1016C>T	c.(1015-1017)gCc>gTc	p.A339V	OPCML_ENST00000541867.1_Missense_Mutation_p.A348V|OPCML_ENST00000524381.1_Missense_Mutation_p.A332V|OPCML_ENST00000374778.4_Missense_Mutation_p.A298V|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	339					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GAAGAAGTGGGCTAAGAGGGT	0.502000													15	79					0	0	0.000958	0	0
TTN	7273	broad.mit.edu	37	2	179584291	179584291	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179584291G>A	ENST00000589042.1	-	82	24152	c.23928C>T	c.(23926-23928)gtC>gtT	p.V7976V	TTN_ENST00000342992.6_Silent_p.V6732V|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V7659V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7659	Ig-like 62.						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)			CAGAAACATGGACGGATACAG	0.398000													52	203					0	0	0.000781	0	0
AFF2	2334	broad.mit.edu	37	X	148038127	148038127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:148038127G>A	ENST00000370460.2	+	11	3031	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D	AFF2_ENST00000286437.5_Missense_Mutation_p.G492D|AFF2_ENST00000342251.3_Missense_Mutation_p.G818D|AFF2_ENST00000370457.5_Missense_Mutation_p.G818D	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	851					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCTAAGGGCAAACGTAAG	0.517000													11	30					0	0	0.001368	0	0
SHE	126669	broad.mit.edu	37	1	154471638	154471638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:154471638C>T	ENST00000304760.2	-	2	754	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	223										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCGTTCTCTCCGACTCTCTC	0.438000													16	84					0	0	0.000743	0	0
CHRM2	1129	broad.mit.edu	37	7	136700128	136700128	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:136700128G>A	ENST00000445907.2	+	3	1044	c.516G>A	c.(514-516)gaG>gaA	p.E172E	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Silent_p.E172E|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.E172E|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Silent_p.E172E|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.E172E|CHRM2_ENST00000402486.3_Silent_p.E172E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	172					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)	GAACTGTGGAGGATGGGGAGT	0.493000													15	133					0	0	0.000566	0	0
LRP1B	53353	broad.mit.edu	37	2	141272283	141272283	+	Silent	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:141272283A>G	ENST00000389484.3	-	51	9179	c.8208T>C	c.(8206-8208)caT>caC	p.H2736H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2736	LDL-receptor class A 16.				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)		CACAAATCCAATGCTTAGAAA	0.368000										TSP Lung(27;0.18)			7	59					0	0	0.001984	0	0
FLNB	2317	broad.mit.edu	37	3	58095323	58095323	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:58095323C>T	ENST00000357272.4	+	15	2385	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	FLNB_ENST00000490882.1_Silent_p.S740S|FLNB_ENST00000429972.2_Silent_p.S740S|FLNB_ENST00000358537.3_Silent_p.S740S|FLNB_ENST00000348383.5_Silent_p.S740S|FLNB_ENST00000295956.4_Silent_p.S740S|FLNB_ENST00000419752.2_Silent_p.S571S|FLNB_ENST00000493452.1_Silent_p.S571S			O75369	FLNB_HUMAN	filamin B, beta	740					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGCAAGGTAGCCATCCTCAGA	0.468000													7	94					0	0	0.000157	0	0
GALNT14	79623	broad.mit.edu	37	2	31135139	31135139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:31135139G>A	ENST00000349752.5	-	14	2089	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S	GALNT14_ENST00000356174.3_Missense_Mutation_p.P451S|GALNT14_ENST00000324589.5_Missense_Mutation_p.P489S|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.P449S|GALNT14_ENST00000406653.1_Missense_Mutation_p.P464S	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGGCGCCAGGGAACAAGGTG	0.552000													19	71					0	0	0.000743	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192355	123192355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:123192355C>T	ENST00000264501.4	+	47	8049	c.7676C>T	c.(7675-7677)tCc>tTc	p.S2559F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2559F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2559F			Q2LD37	K1109_HUMAN	KIAA1109	2559					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S2559F(1)		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						TTTACTATTTCCTGTCAGTCA	0.408000													44	275					0	0	0.000781	0	0
CASR	846	broad.mit.edu	37	3	121976000	121976000	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:121976000C>T	ENST00000498619.1	+	3	696	c.258C>T	c.(256-258)gcC>gcT	p.A86A	CASR_ENST00000490131.1_Silent_p.A86A|CASR_ENST00000296154.5_Silent_p.A86A	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	86					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGCCCAGCCCTTCTTCCCA	0.443000													12	88					0	0	0.000978	0	0
WDFY3	23001	broad.mit.edu	37	4	85676507	85676507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:85676507G>A	ENST00000322366.6	-	34	5878	c.5471C>T	c.(5470-5472)tCc>tTc	p.S1824F	WDFY3_ENST00000295888.4_Missense_Mutation_p.S1824F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1824						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)		AGTTCCGCTGGAGGCAGGAAC	0.428000													31	75					0	0	0.002445	0	0
DNAH8	1769	broad.mit.edu	37	6	38942249	38942249	+	Silent	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:38942249T>C	ENST00000359357.3	+	83	12381	c.12127T>C	c.(12127-12129)Tta>Cta	p.L4043L	DNAH8_ENST00000441566.1_Silent_p.L4007L					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						CATCAGTAATTTACCCATGTG	0.443000													24	54					0	0	0.000721	0	0
SMIM11	54065	broad.mit.edu	37	21	35757832	35757832	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:35757832C>T	ENST00000399295.2	+	3	439	c.69C>T	c.(67-69)ctC>ctT	p.L23L	SMIM11_ENST00000399299.1_Intron|SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399292.3_Silent_p.L23L					small integral membrane protein 11																		CATTAATTCTCTGCCTGACAT	0.418000													50	198					0	0	0.000781	0	0
IDO1	3620	broad.mit.edu	37	8	39775406	39775406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:39775406G>A	ENST00000518237.1	+	2	739	c.100G>A	c.(100-102)Gat>Aat	p.D34N	IDO1_ENST00000522495.1_Missense_Mutation_p.D34N|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	34					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AAATCTACCTGATTTTTATAA	0.358000													8	36					0	0	0.000157	0	0
MYO18B	84700	broad.mit.edu	37	22	26422903	26422903	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26422903G>A	ENST00000335473.7	+	43	7213	c.6963G>A	c.(6961-6963)ttG>ttA	p.L2321L	MYO18B_ENST00000407587.2_Silent_p.L2322L|MYO18B_ENST00000536101.1_Silent_p.L2321L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2321						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						GTGGTCTCTTGAGGTCCACCA	0.582000													13	44					0	0	0.002450	0	0
STARD4	134429	broad.mit.edu	37	5	110835597	110835597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:110835597C>T	ENST00000296632.3	-	6	739	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	202	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAAAGCTTTTCGTAAATCACC	0.403000													15	63					0	0	0.002450	0	0
DNAH9	1770	broad.mit.edu	37	17	11535910	11535910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:11535910G>A	ENST00000262442.3	+	8	1593	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E509K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	509	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGGACTTTGAAAATGACGT	0.393000													12	62					0	0	0.001855	0	0
TTC30B	150737	broad.mit.edu	37	2	178416698	178416698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:178416698C>T	ENST00000408939.2	-	1	1044	c.794G>A	c.(793-795)aGa>aAa	p.R265K		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	265					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATAGTTTCTCAGTTGGTA	0.512000													19	150					0	0	0.000958	0	0
LILRA6	79168	broad.mit.edu	37	19	54745472	54745472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:54745472G>A	ENST00000440558.2	-	4	686	c.638C>T	c.(637-639)cCc>cTc	p.P213L	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.P213L|LILRA6_ENST00000419410.2_Missense_Mutation_p.P213L|LILRA6_ENST00000396365.2_Missense_Mutation_p.P213L|LILRA6_ENST00000245621.5_Missense_Mutation_p.P213L|LILRA6_ENST00000391735.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATCTCCAGGGGGTCACTGGG	0.592000													11	92					0	0	0.000566	0	0
OR2G3	81469	broad.mit.edu	37	1	247769216	247769216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:247769216C>T	ENST00000320002.2	+	1	361	c.329C>T	c.(328-330)aCt>aTt	p.T110I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGGGCTCCACTGAATGTATC	0.493000													55	241					0	0	0.000781	0	0
USP29	57663	broad.mit.edu	37	19	57641091	57641091	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:57641091T>A	ENST00000254181.4	+	4	1502	c.1048T>A	c.(1048-1050)Tta>Ata	p.L350I	USP29_ENST00000598197.1_Missense_Mutation_p.L350I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	350					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAGAGAGAATTACTTGGGAA	0.383000													15	91					0	0	0.000309	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268042	103268042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:103268042C>T	ENST00000217926.5	-	1	217	c.191G>A	c.(190-192)cGa>cAa	p.R64Q		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	64					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						ATGGCGCCCTCGCTTCCTCTG	0.637000													10	21					0	0	0.000443	0	0
TMC2	117532	broad.mit.edu	37	20	2552825	2552825	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:2552825G>A	ENST00000358864.1	+	5	570	c.554_splice	c.e5-1	p.R185_splice		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	185	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTAAGCAGGGAGGCCCAGG	0.443000													8	46					0	0	0.000274	0	0
RERE	473	broad.mit.edu	37	1	8422900	8422900	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:8422900G>C	ENST00000337907.3	-	17	2379	c.1745C>G	c.(1744-1746)tCg>tGg	p.S582W	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S28W|RERE_ENST00000377464.1_Missense_Mutation_p.S314W|RERE_ENST00000400908.2_Missense_Mutation_p.S582W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	582					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGTAGTGTCGACATCTGCCC	0.617000													17	62					0	0	0.000566	0	0
ST18	9705	broad.mit.edu	37	8	53062383	53062383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:53062383G>A	ENST00000276480.7	-	16	2644	c.1961C>T	c.(1960-1962)gCa>gTa	p.A654V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	654						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATAGAATGCTGCATTGACCAG	0.458000													10	85					0	0	0.000443	0	0
PAPOLG	64895	broad.mit.edu	37	2	61019409	61019409	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:61019409T>A	ENST00000238714.3	+	17	1913	c.1664T>A	c.(1663-1665)gTa>gAa	p.V555E		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	555					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGCCCTTCTGTAGGAGAAACA	0.388000													12	55					0	0	0.002450	0	0
LRP2	4036	broad.mit.edu	37	2	169995190	169995190	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:169995190T>C	ENST00000263816.3	-	75	13700	c.13415A>G	c.(13414-13416)gAa>gGa	p.E4472G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTCCCATTTTCAGAGGGCTT	0.413000													8	42					0	0	0.000157	0	0
SALL1	6299	broad.mit.edu	37	16	51173168	51173168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:51173168G>A	ENST00000440970.1	-	2	3105	c.2674C>T	c.(2674-2676)Ctc>Ttc	p.L892F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L989F|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	989					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)			AAAGGGAAGAGGATCCCCAAA	0.433000													5	43					0	0	0.001168	0	0
CD163L1	283316	broad.mit.edu	37	12	7521977	7521977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:7521977C>T	ENST00000313599.3	-	15	4072	c.4015G>A	c.(4015-4017)Gaa>Aaa	p.E1339K	CD163L1_ENST00000396630.1_Missense_Mutation_p.E1339K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1349K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1339	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGCATCTTCCTTGTGTCCA	0.507000													10	120					0	0	0.001368	0	0
CDH10	1008	broad.mit.edu	37	5	24535336	24535336	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:24535336G>A	ENST00000264463.4	-	5	1206	c.699C>T	c.(697-699)taC>taT	p.Y233Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	233	Cadherin 2.				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)		TGACCACTTGGTATTGCTCTC	0.448000										HNSCC(23;0.051)			11	78					0	0	0.002450	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	103					0	0	0.001984	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683192	50683192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:50683192C>T	ENST00000446044.1	+	9	1276	c.680C>T	c.(679-681)tCc>tTc	p.S227F	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.S227F	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	227	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GACATGTGGTCCCTGGGTGTC	0.597000													8	57					0	0	0.000274	0	0
ZAN	7455	broad.mit.edu	37	7	100345200	100345200	+	RNA	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:100345200C>T	ENST00000542585.1	+	0	1107				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_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)			ACTCTCTTCTCAGGACAACCT	0.517000													10	66					0	0	0.000443	0	0
RND1	27289	broad.mit.edu	37	12	49255887	49255887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:49255887C>T	ENST00000309739.5	-	3	353	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	75					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CGGACATTATCGTAGTAGGGA	0.507000													7	71					0	0	0.000274	0	0
NPAP1	23742	broad.mit.edu	37	15	24922823	24922823	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:24922823C>T	ENST00000329468.2	+	1	2283	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCAAATTCCCAAATACATT	0.458000													23	61					0	0	0.002299	0	0
OSBPL3	26031	broad.mit.edu	37	7	24888786	24888786	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:24888786G>T	ENST00000313367.2	-	12	1619	c.1168C>A	c.(1168-1170)Caa>Aaa	p.Q390K	OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.Q359K|OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.Q359K	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	390					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCTGTGTTTTGTGCTAGGGCC	0.512000													13	110					4.3838e-07	2.15138e-06	0.001855	1	0
TG	7038	broad.mit.edu	37	8	133899499	133899499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:133899499G>A	ENST00000220616.4	+	9	1922	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	TG_ENST00000377869.1_Missense_Mutation_p.D628N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	628	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGCTATGAGGATGTCCAATG	0.522000													12	93					0	0	0.001855	0	0
DAB2	1601	broad.mit.edu	37	5	39383359	39383359	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:39383359G>A	ENST00000545653.1	-	9	1169	c.639C>T	c.(637-639)atC>atT	p.I213I	DAB2_ENST00000509337.1_Silent_p.I213I|DAB2_ENST00000320816.6_Silent_p.I234I|DAB2_ENST00000339788.6_Intron	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	234					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCACTAACAGGATATCTTTGC	0.348000													20	100					0	0	0.002780	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103076	55103076	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:55103076G>A	ENST00000374971.1	+	3	211	c.159G>A	c.(157-159)ggG>ggA	p.G53G	PAGE2B_ENST00000374974.3_Intron	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	53										lung(3)	3						CACCTAGTGGGGAGATCGAAA	0.458000													8	19					0	0	0.000274	0	0
NRG3	10718	broad.mit.edu	37	10	84744859	84744859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:84744859C>T	ENST00000372142.2	+	11	1272	c.998C>T	c.(997-999)tCa>tTa	p.S333L	NRG3_ENST00000556918.1_Missense_Mutation_p.S360L|NRG3_ENST00000537893.1_Missense_Mutation_p.S180L|NRG3_ENST00000404547.1_Missense_Mutation_p.S554L|NRG3_ENST00000404576.2_Missense_Mutation_p.S334L|NRG3_ENST00000372141.2_Missense_Mutation_p.S530L|NRG3_ENST00000545131.1_Missense_Mutation_p.S180L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	554					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCAGGTATTCATCCAGTGGT	0.393000													21	205					0	0	0.001882	0	0
ATP10A	57194	broad.mit.edu	37	15	25936910	25936910	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:25936910G>A	ENST00000356865.6	-	15	3228	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1039					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGCCACCTGGATCATGCTGA	0.468000													52	208					0	0	0.000781	0	0
DEFB119	245932	broad.mit.edu	37	20	29977019	29977019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:29977019C>T	ENST00000376315.2	-	2	75	c.76G>A	c.(76-78)Gat>Aat	p.D26N	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	32					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)			CAGTGTCCATCCATCCAACAC	0.463000													16	110					0	0	0.000566	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056771	102056771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:102056771C>T	ENST00000318222.3	-	6	1533	c.1151G>A	c.(1150-1152)aGc>aAc	p.S384N	PKD2L1_ENST00000353274.3_Missense_Mutation_p.S384N|PKD2L1_ENST00000338519.3_Missense_Mutation_p.S309N	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	384					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTTCCAGATGCTGCTGAGGTA	0.517000													9	44					0	0	0.000673	0	0
METTL16	79066	broad.mit.edu	37	17	2323568	2323568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:2323568G>A	ENST00000263092.5	-	10	1512	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	METTL16_ENST00000538844.1_Missense_Mutation_p.P244L|METTL16_ENST00000571669.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	462							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATCCTCCGTGGGTTCCGGGTT	0.632000													23	123					0	0	0.000586	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:46066470C>T	ENST00000295452.4	-	5	780	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000													44	144					0	0	0.000781	0	0
MRC2	9902	broad.mit.edu	37	17	60766270	60766270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:60766270G>A	ENST00000303375.5	+	23	3685	c.3283G>A	c.(3283-3285)Gat>Aat	p.D1095N	MRC2_ENST00000446119.2_Silent_p.T40T|MRC2_ENST00000580916.1_3'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1095	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCGCTGGGACGATCGGAGCTG	0.672000													6	47					0	0	0.000157	0	0
FHL5	9457	broad.mit.edu	37	6	97058559	97058559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:97058559G>A	ENST00000326771.2	+	6	996	c.616G>A	c.(616-618)Gac>Aac	p.D206N	FHL5_ENST00000541107.1_Missense_Mutation_p.D206N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	206	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GTCCAGAGACGACTATCCATT	0.433000													24	101					0	0	0.001061	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960056	117960056	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:117960056G>A	ENST00000310164.2	+	4	1356	c.849G>A	c.(847-849)caG>caA	p.Q283Q		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGGAGTCTCAGGACCCTCCAC	0.572000													20	33					0	0	0.002299	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581075	1581075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:1581075C>T	ENST00000421627.2	+	5	1567	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	557					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCATGGATGCCCTCGACCTC	0.532000													7	38					0	0	0.001984	0	0
HEMK1	51409	broad.mit.edu	37	3	50615280	50615280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:50615280G>A	ENST00000232854.4	+	7	1190	c.638G>A	c.(637-639)tGg>tAg	p.W213*	HEMK1_ENST00000455834.1_Nonsense_Mutation_p.W213*|HEMK1_ENST00000434410.1_Nonsense_Mutation_p.W213*	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	213					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GACAGGATTTGGATCATCCAC	0.557000													6	95					0	0	0.001984	0	0
PTPRO	5800	broad.mit.edu	37	12	15734656	15734656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:15734656C>T	ENST00000281171.4	+	23	3506	c.3176C>T	c.(3175-3177)gCc>gTc	p.A1059V	PTPRO_ENST00000445537.2_Missense_Mutation_p.A248V|PTPRO_ENST00000544244.1_Missense_Mutation_p.A220V|PTPRO_ENST00000542557.1_Missense_Mutation_p.A220V|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1031V|PTPRO_ENST00000442921.2_Missense_Mutation_p.A248V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1059	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAACCTATAGCCTATGGAGAC	0.453000													6	63					0	0	0.000274	0	0
TTN	7273	broad.mit.edu	37	2	179477551	179477551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179477551C>T	ENST00000589042.1	-	265	50121	c.49897G>A	c.(49897-49899)Gaa>Aaa	p.E16633K	TTN_ENST00000342992.6_Missense_Mutation_p.E14065K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7693K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E14992K|TTN_ENST00000342175.6_Missense_Mutation_p.E7760K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7568K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14992	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E14065*(2)|p.E7693*(1)|p.E7568*(1)|p.E7760*(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)			GGTTCACTTTCCCCAGCCTTA	0.502000													4	21					0	0	0.000602	0	0
VWA3A	146177	broad.mit.edu	37	16	22135021	22135021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:22135021G>A	ENST00000389398.5	+	16	1621	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	509						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACAGTCTGTGAAAAAAGGTA	0.502000													29	100					0	0	0.001061	0	0
DDB1	1642	broad.mit.edu	37	11	61081357	61081357	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:61081357T>C	ENST00000301764.7	-	15	2235	c.1838A>G	c.(1837-1839)tAc>tGc	p.Y613C	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	613	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCCCAAAGTAGAAAAGCGC	0.448000								Nucleotide excision repair (NER)					12	54					0	0	0.001368	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706343	33706343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:33706343G>A	ENST00000269187.5	-	2	841	c.628C>T	c.(628-630)Cct>Tct	p.P210S	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.P210S	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	210						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AGTTTTCCAGGTCTTGGAGTC	0.478000													18	143					0	0	0.000566	0	0
ACR	49	broad.mit.edu	37	22	51183135	51183135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:51183135G>A	ENST00000216139.5	+	5	806	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	256	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCTATGTGGTCGTGGGAAT	0.597000													5	28					0	0	0.000602	0	0
BPTF	2186	broad.mit.edu	37	17	65899939	65899939	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:65899939A>G	ENST00000321892.4	+	10	3017	c.2956A>G	c.(2956-2958)Aag>Gag	p.K986E	BPTF_ENST00000335221.5_Missense_Mutation_p.K986E|BPTF_ENST00000306378.6_Missense_Mutation_p.K860E|BPTF_ENST00000424123.3_Missense_Mutation_p.K847E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	986					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			aagagaagaaaaggagaaagt	0.333000													10	37					0	0	0.000443	0	0
GTSF1	121355	broad.mit.edu	37	12	54858877	54858877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:54858877G>A	ENST00000552397.1	-	3	987	c.91C>T	c.(91-93)Cct>Tct	p.P31S	RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Intron|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.P31S			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	31							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AGATGATAAGGAAACCTGCAA	0.408000													12	146					0	0	0.002450	0	0
PRB1	5542	broad.mit.edu	37	12	11506190	11506190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:11506190C>T	ENST00000500254.2	-	4	485	c.448G>A	c.(448-450)Gga>Aga	p.G150R	PRB1_ENST00000546254.1_Missense_Mutation_p.G150R|PRB1_ENST00000545626.1_Missense_Mutation_p.G130R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	344	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGTGGTCCTTGTGGCTTT	0.617000													14	150					0	0	0.000423	0	0
MUC16	94025	broad.mit.edu	37	19	9090729	9090729	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:9090729C>T	ENST00000397910.4	-	1	1289	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	362	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						TAAGGATAGTCTCTGCTGTCT	0.488000													8	28					0	0	0.000157	0	0
AMER1	139285	broad.mit.edu	37	X	63410310	63410310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:63410310G>A	ENST00000330258.3	-	2	3129	c.2857C>T	c.(2857-2859)Cca>Tca	p.P953S	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TAGGCCCCTGGGGGTTCAGTA	0.592000													15	14					0	0	0.000423	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503920	140503920	+	Silent	SNP	G	G	A	rs144682616		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:140503920G>A	ENST00000194152.1	+	1	2340	c.2340G>A	c.(2338-2340)agG>agA	p.R780R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		780					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCGGGAGGGAAGTTAAGG	0.448000													4	45					0	0	0.001984	0	0
PRR21	643905	broad.mit.edu	37	2	240981461	240981461	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:240981461G>A	ENST00000408934.1	-	1	938	c.939C>T	c.(937-939)tcC>tcT	p.S313S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	313	Pro-rich.									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						GAAGAGGCATGGACGAAGGGC	0.607000													21	100					0	0	0.000472	0	0
FAM135B	51059	broad.mit.edu	37	8	139163549	139163549	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:139163549A>T	ENST00000395297.1	-	13	3339	c.3169T>A	c.(3169-3171)Ttc>Atc	p.F1057I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1057										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGAAGAGAATCCAGCCCTG	0.527000										HNSCC(54;0.14)			9	53					0	0	0.000673	0	0
KLHL1	57626	broad.mit.edu	37	13	70275875	70275875	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:70275875C>A	ENST00000377844.4	-	11	2965	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	KLHL1_ENST00000545028.1_Missense_Mutation_p.G543W	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	736					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGCTCTCCCAATATTCAAG	0.303000													5	75					8.12818e-05	0.000397428	0.001984	1	0
WWC3	55841	broad.mit.edu	37	X	10085262	10085262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:10085262C>T	ENST00000380861.4	+	11	1554	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	WWC3_ENST00000454666.1_Missense_Mutation_p.S388L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	388	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCCTGAGCTCGGTCAGCTTC	0.667000													19	27					0	0	0.002780	0	0
PLK2	10769	broad.mit.edu	37	5	57751416	57751416	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:57751416G>A	ENST00000274289.3	-	11	1875	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	525	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AAAGGACACCGACGGTGTGGT	0.438000													7	31					0	0	0.000157	0	0
CHRM2	1129	broad.mit.edu	37	7	136700038	136700038	+	Missense_Mutation	SNP	G	G	A	rs142493466		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:136700038G>A	ENST00000445907.2	+	3	954	c.426G>A	c.(424-426)atG>atA	p.M142I	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M142I|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M142I|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M142I|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M142I|CHRM2_ENST00000402486.3_Missense_Mutation_p.M142I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	142					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)	TGGCAGGTATGATGATTGCAG	0.502000													20	69					0	0	0.001523	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532427	84532427	+	RNA	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:84532427G>A	ENST00000527857.1	+	0	2449					NR_026851.1																						CTAACTCTGAGAGAGACCTAG	0.468000													6	57					0	0	0.000274	0	0
MAST4	375449	broad.mit.edu	37	5	66084622	66084622	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:66084622G>A	ENST00000404260.3	+	3	950	c.642_splice	c.e3+1	p.L214_splice	MAST4_ENST00000406374.1_Splice_Site_p.L214_splice|MAST4_ENST00000403625.2_Splice_Site_p.L214_splice|MAST4_ENST00000406039.1_Splice_Site_p.L214_splice			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	214						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGCCAGCCTGGTGAGTGTCC	0.612000													6	18					0	0	0.001984	0	0
SETD5	55209	broad.mit.edu	37	3	9483415	9483415	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:9483415T>C	ENST00000402466.1	+	10	1423	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L	SETD5_ENST00000407969.1_Missense_Mutation_p.F336L|SETD5_ENST00000402198.1_Missense_Mutation_p.F317L|SETD5_ENST00000406341.1_Missense_Mutation_p.F317L|SETD5_ENST00000302463.6_Missense_Mutation_p.F219L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	317										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAATGGGCATTTCTTCAAAAA	0.423000													21	102					0	0	0.001882	0	0
CEP170	9859	broad.mit.edu	37	1	243364124	243364124	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:243364124G>A	ENST00000366542.1	-	5	339	c.288C>T	c.(286-288)ttC>ttT	p.F96F	CEP170_ENST00000366544.1_Silent_p.F96F|CEP170_ENST00000366543.1_Silent_p.F96F	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	96						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTACTACAGTGAAAAGATTTG	0.323000													10	42					0	0	0.000309	0	0
BMPR1B	658	broad.mit.edu	37	4	96045035	96045035	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:96045035A>C	ENST00000515059.1	+	7	707	c.424A>C	c.(424-426)Atc>Ctc	p.I142L	BMPR1B_ENST00000440890.2_Missense_Mutation_p.I172L|BMPR1B_ENST00000394931.1_Missense_Mutation_p.I142L|BMPR1B_ENST00000264568.4_Missense_Mutation_p.I142L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	142					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CTTGGTCCTTATCATATTATT	0.313000													39	237					0	0	0.002852	0	0
PLCH2	9651	broad.mit.edu	37	1	2418770	2418770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:2418770G>A	ENST00000449969.1	+	7	1149	c.988G>A	c.(988-990)Gac>Aac	p.D330N	PLCH2_ENST00000378486.3_Missense_Mutation_p.D357N|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D357N|PLCH2_ENST00000419816.2_Missense_Mutation_p.D357N|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	357	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTCACGGGTGGACATGTATGC	0.627000													5	22					0	0	0.000274	0	0
CSMD2	114784	broad.mit.edu	37	1	34033312	34033312	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:34033312T>C	ENST00000373381.4	-	53	8437	c.8261A>G	c.(8260-8262)aAc>aGc	p.N2754S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2731	Sushi 18.					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)				GTAGCTGTAGTTCTCCCCATT	0.557000													6	30					0	0	0.001984	0	0
ARNT	405	broad.mit.edu	37	1	150811929	150811929	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:150811929G>A	ENST00000358595.5	-	6	674	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ARNT_ENST00000515192.1_Silent_p.F149F|ARNT_ENST00000505755.1_Silent_p.F143F|ARNT_ENST00000354396.2_Silent_p.F158F	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	158					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GATCAGTGAGGAAAGACGGCT	0.453000			T	ETV6	AML								14	151					0	0	0.000309	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217187	150217187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:150217187C>T	ENST00000313543.4	+	2	282	c.125C>T	c.(124-126)gCt>gTt	p.A42V		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	42							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCCCAAGCTGTTACCAAG	0.498000													16	33					0	0	0.000566	0	0
EPPK1	83481	broad.mit.edu	37	8	144941668	144941668	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:144941668C>T	ENST00000525985.1	-	2	5825	c.5754G>A	c.(5752-5754)agG>agA	p.R1918R				P58107	EPIPL_HUMAN	epiplakin 1	1918						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGCTCCTTCCTGCTGGCCT	0.657000													5	30					0	0	0.000602	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148725	70148725	+	Silent	SNP	G	G	A	rs141540446		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:70148725G>A	ENST00000374299.3	-	3	642	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SLC7A3_ENST00000298085.4_Silent_p.F166F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	166					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAAAGCAAAGAAATCTGGAT	0.547000													10	20					0	0	0.000673	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202466597	202466597	+	Silent	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:202466597T>C	ENST00000439140.1	-	4	425	c.381A>G	c.(379-381)caA>caG	p.Q127Q	ALS2CR11_ENST00000450242.1_Silent_p.Q127Q|ALS2CR11_ENST00000439802.1_Silent_p.Q127Q|ALS2CR11_ENST00000286195.3_Silent_p.Q127Q	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	127										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TAGCATAATGTTGTAAACTGA	0.269000													6	51					0	0	0.001984	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144568	12144568	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:12144568T>G	ENST00000263932.2	+	2	333	c.111T>G	c.(109-111)taT>taG	p.Y37*	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	37					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTACTATGACAAGGCTG	0.572000													20	84					0	0	0.002299	0	0
SDR16C5	195814	broad.mit.edu	37	8	57214052	57214052	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:57214052T>G	ENST00000396721.2	-	6	915	c.785A>C	c.(784-786)aAg>aCg	p.K262T	SDR16C5_ENST00000522671.1_3'UTR|SDR16C5_ENST00000303749.3_Missense_Mutation_p.K306T			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	306					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GAGCTTCTTCTTTTGGTCAAC	0.398000													19	247					0	0	0.001882	0	0
GSTM2	2946	broad.mit.edu	37	1	110217428	110217428	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:110217428C>T	ENST00000241337.4	+	8	677	c.627C>T	c.(625-627)ttC>ttT	p.F209F	GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Silent_p.F170F|GSTM2_ENST00000414179.2_Intron	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GACCTGTGTTCACAAAGATGG	0.582000													40	151					0	0	0.002222	0	0
SLC6A13	6540	broad.mit.edu	37	12	369019	369019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:369019C>T	ENST00000343164.4	-	2	252	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G67E|SLC6A13_ENST00000436453.1_Missense_Mutation_p.G67E	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	67					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CATCTCACCTCCCCCATTTTT	0.537000													14	95					0	0	0.001855	0	0
GPR114	221188	broad.mit.edu	37	16	57600608	57600608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:57600608C>T	ENST00000340339.4	+	7	1167	c.644C>T	c.(643-645)tCc>tTc	p.S215F	GPR114_ENST00000349457.3_Missense_Mutation_p.S215F|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	215	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAGCAGCCCTCCCACTCTCAG	0.607000													17	57					0	0	0.000958	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	G	A	rs140332483		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:55846490G>A	ENST00000322678.1	+	1	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000													10	111					0	0	0.000978	0	0
TGM1	7051	broad.mit.edu	37	14	24718595	24718595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:24718595C>T	ENST00000206765.6	-	15	2501	c.2378G>A	c.(2377-2379)gGg>gAg	p.G793E	TGM1_ENST00000544573.1_Missense_Mutation_p.G351E	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	793					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GAAGAAGCCCCCATCCCCAGG	0.632000													5	51					0	0	0.001168	0	0
CACNA1I	8911	broad.mit.edu	37	22	40075294	40075294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:40075294G>A	ENST00000336649.4	+	35	5256	c.5256G>A	c.(5254-5256)atG>atA	p.M1752I	CACNA1I_ENST00000407673.1_Missense_Mutation_p.M1711I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.M1711I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.M1746I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.M1746I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.M1711I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1746					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)	ACGCCGAGATGGATGCCGAGC	0.701000													6	6					0	0	0.001168	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503254	110503254	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:110503254C>T	ENST00000378402.5	+	61	10142	c.10038C>T	c.(10036-10038)ttC>ttT	p.F3346F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3346					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)			ACCATGGCTTCTCTCCAGCAA	0.353000										HNSCC(38;0.096)			12	93					0	0	0.000978	0	0
WDR17	116966	broad.mit.edu	37	4	177069353	177069353	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:177069353G>A	ENST00000393643.2	+	13	2016	c.1764G>A	c.(1762-1764)gtG>gtA	p.V588V	WDR17_ENST00000280190.4_Silent_p.V612V|WDR17_ENST00000508596.1_Silent_p.V588V|WDR17_ENST00000507824.2_Silent_p.V595V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	612										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGCACCTGTGAGAGGATTAA	0.408000													11	173					0	0	0.000423	0	0
RBM12	10137	broad.mit.edu	37	20	34242834	34242834	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:34242834G>A	ENST00000374114.3	-	3	674	c.411C>T	c.(409-411)acC>acT	p.T137T	RBM12_ENST00000359646.1_Silent_p.T137T|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Silent_p.T137T	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	137						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAACAGAAGTGGTGGCAGTAA	0.473000											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	119					0	0	0.000721	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955621	18955621	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:18955621G>A	ENST00000302797.3	-	1	935	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	237					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATAAAAATAGGAAAAACTGAA	0.488000													6	25					0	0	0.001168	0	0
SLC6A14	11254	broad.mit.edu	37	X	115586625	115586625	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:115586625T>A	ENST00000371900.4	+	12	1695	c.1607T>A	c.(1606-1608)cTt>cAt	p.L536H	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	536					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACGCCTATCCTTTTGATTGTA	0.338000													24	42					0	0	0.000721	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162325	142162325	+	RNA	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:142162325G>A	ENST00000390371.3	-	0	82																											CTGCCCACAGGAGAGGAAAGG	0.582000													5	41					0	0	0.001984	0	0
GADL1	339896	broad.mit.edu	37	3	30842485	30842485	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:30842485G>A	ENST00000454381.3	-	12	1192	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GADL1_ENST00000282538.5_Silent_p.I382I			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	382					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGCTACACTGGATAGACTTGT	0.438000													16	61					0	0	0.000423	0	0
COL6A6	131873	broad.mit.edu	37	3	130381032	130381032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:130381032G>A	ENST00000358511.6	+	34	6413	c.6382G>A	c.(6382-6384)Gaa>Aaa	p.E2128K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E2128K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2128	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGATGACAAGGAACTGGAGGA	0.478000													18	107					0	0	0.000566	0	0
OR2W1	26692	broad.mit.edu	37	6	29012641	29012641	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:29012641G>C	ENST00000377175.1	-	1	376	c.312C>G	c.(310-312)taC>taG	p.Y104*		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CCAACCACATGTAAACATAGA	0.438000													11	41					0	0	0.000673	0	0
IL1RN	3557	broad.mit.edu	37	2	113885205	113885205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:113885205G>A	ENST00000409930.3	+	1	68	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000354115.2_Intron|IL1RN_ENST00000259206.5_Intron	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	2					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TCACAGAATGGAAATCTGCAG	0.527000									Lichen Sclerosis et Atrophicus, Familial Clustering of				9	25					0	0	0.000274	0	0
TRPM3	80036	broad.mit.edu	37	9	73255515	73255515	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:73255515G>A	ENST00000377110.2	-	10	1650	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	TRPM3_ENST00000396292.4_Silent_p.I341I|TRPM3_ENST00000358082.3_Silent_p.I341I|TRPM3_ENST00000377106.1_Silent_p.I341I|TRPM3_ENST00000396280.5_Silent_p.I316I|TRPM3_ENST00000357533.2_Silent_p.I471I|TRPM3_ENST00000396285.1_Silent_p.I316I|TRPM3_ENST00000360823.2_Silent_p.I341I|TRPM3_ENST00000377105.1_Silent_p.I316I|TRPM3_ENST00000408909.2_Silent_p.I316I|TRPM3_ENST00000423814.3_Silent_p.I496I|TRPM3_ENST00000377111.2_Silent_p.I469I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	494						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGCTGCGAGCGATGTCGACTC	0.502000											OREG0019249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	0.001168	0	0
CC2D1B	200014	broad.mit.edu	37	1	52821912	52821912	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:52821912T>C	ENST00000371586.2	-	18	2156	c.2018A>G	c.(2017-2019)cAg>cGg	p.Q673R	CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q667R|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q48R	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	673										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GTCGAGGCCCTGAGCCTGGGC	0.572000													22	102					0	0	0.000472	0	0
MGAT3	4248	broad.mit.edu	37	22	39883496	39883496	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:39883496C>T	ENST00000341184.6	+	2	359	c.144C>T	c.(142-144)agC>agT	p.S48S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	48	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGTGTCCAGCTTTTTCTGGA	0.637000													38	207					0	0	0.001951	0	0
COL7A1	1294	broad.mit.edu	37	3	48616931	48616931	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:48616931C>T	ENST00000328333.8	-	59	5360	c.5253G>A	c.(5251-5253)cgG>cgA	p.R1751R	COL7A1_ENST00000454817.1_Silent_p.R1751R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1751	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGGGGTCCCCGAAACCCTT	0.607000													6	25					0	0	0.001984	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603424	31603424	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:31603424C>T	ENST00000376033.2	+	24	5673	c.5439C>T	c.(5437-5439)tcC>tcT	p.S1813S	PRRC2A_ENST00000376007.4_Silent_p.S1813S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1813						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCCACAATCCAAGAACCTGG	0.597000													17	43					0	0	0.000566	0	0
KIFC2	90990	broad.mit.edu	37	8	145695007	145695007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:145695007C>T	ENST00000301332.2	+	12	1734	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	KIFC2_ENST00000301331.5_Missense_Mutation_p.P201S	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	453	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGGTCTTCCCTCCAGACGC	0.617000													10	55					0	0	0.001368	0	0
DMBT1	1755	broad.mit.edu	37	10	124399818	124399818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:124399818C>T	ENST00000368909.3	+	52	6924	c.6818C>T	c.(6817-6819)cCt>cTt	p.P2273L	DMBT1_ENST00000359586.6_Missense_Mutation_p.P993L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2263L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1645L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2263L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1645L|DMBT1_ENST00000338354.3_Missense_Mutation_p.P2273L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2273	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCAGCCGCCCTTACTACGTG	0.473000													22	92					0	0	0.002299	0	0
ULK1	8408	broad.mit.edu	37	12	132394839	132394839	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:132394839G>A	ENST00000321867.4	+	11	1200	c.849G>A	c.(847-849)tcG>tcA	p.S283S		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	283					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCAGCCCCTCGGTCAGGAAAT	0.617000													17	119					0	0	0.001882	0	0
SYT10	341359	broad.mit.edu	37	12	33579199	33579199	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:33579199T>C	ENST00000228567.3	-	2	679	c.383A>G	c.(382-384)gAg>gGg	p.E128G	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	128						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)					TATTGCAGGCTCAATAGCTTT	0.393000													14	158					0	0	0.000566	0	0
OR10G4	390264	broad.mit.edu	37	11	123886812	123886812	+	Silent	SNP	C	C	T	rs3017764		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:123886812C>T	ENST00000320891.4	+	1	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCACTACTTCTGTGACGCAC	0.552000													16	157					0	0	0.000958	0	0
CNTFR	1271	broad.mit.edu	37	9	34556385	34556385	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:34556385G>A	ENST00000378980.3	-	7	929	c.636C>T	c.(634-636)gcC>gcT	p.A212A	CNTFR_ENST00000351266.4_Silent_p.A212A	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	212	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCACTGGCCGGGCTACCACAT	0.552000													5	57					0	0	0.001168	0	0
IGSF21	84966	broad.mit.edu	37	1	18702887	18702887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:18702887C>T	ENST00000251296.1	+	7	1482	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	367	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCATGGGTTTCAGGTCAGCCT	0.577000													11	90					0	0	0.001368	0	0
OR13C8	138802	broad.mit.edu	37	9	107331700	107331700	+	Silent	SNP	C	C	T	rs150711746	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:107331700C>T	ENST00000335040.1	+	1	252	c.252C>T	c.(250-252)agC>agT	p.S84S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCTTGCCAGCTTTCTGGCAG	0.458000													21	197					0	0	0.000472	0	0
PRSS58	136541	broad.mit.edu	37	7	141952342	141952342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:141952342C>T	ENST00000552471.1	-	4	845	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	PRSS58_ENST00000547058.2_Missense_Mutation_p.E176K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	176	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGCATATTTTCCGTGATGTTG	0.438000													20	121					0	0	0.002299	0	0
DNM1P46	196968	broad.mit.edu	37	15	100341233	100341233	+	RNA	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:100341233G>A	ENST00000341853.1	-	0	413					NR_003260.1																						GGTGGTCTTGGGCTTCGCACC	0.572000													4	38					0	0	0.000248	0	0
CALN1	83698	broad.mit.edu	37	7	71488740	71488740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:71488740C>T	ENST00000395275.2	-	5	791	c.403G>A	c.(403-405)Gat>Aat	p.D135N	CALN1_ENST00000329008.5_Missense_Mutation_p.D93N|CALN1_ENST00000412588.1_Missense_Mutation_p.D135N|CALN1_ENST00000405452.2_Missense_Mutation_p.D93N|CALN1_ENST00000431984.1_Missense_Mutation_p.D93N|CALN1_ENST00000395276.2_Missense_Mutation_p.D93N	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	93						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCATCAAAATCCACCTGGCCA	0.458000													19	101					0	0	0.000743	0	0
FGF16	8823	broad.mit.edu	37	X	76709678	76709678	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:76709678G>C	ENST00000439435.1	+	1	31	c.31G>C	c.(31-33)Ggc>Cgc	p.G11R				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CTGGCTGTGGGGCTGATCAGC	0.453000													4	16					0	0	0.000248	0	0
STAG1	10274	broad.mit.edu	37	3	136323168	136323168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:136323168C>T	ENST00000383202.2	-	4	536	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	STAG1_ENST00000236698.5_Missense_Mutation_p.G94R|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Missense_Mutation_p.G94R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	94					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GCACTTTTCCCCAGTTTCACC	0.418000													13	141					0	0	0.000309	0	0
ATP10D	57205	broad.mit.edu	37	4	47556760	47556760	+	Silent	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:47556760A>G	ENST00000273859.3	+	11	1922	c.1653A>G	c.(1651-1653)ccA>ccG	p.P551P		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	551					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACGTGGTACCAGACACCAGGC	0.348000													20	65					0	0	0.002780	0	0
KCNH1	3756	broad.mit.edu	37	1	211192452	211192452	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:211192452G>A	ENST00000367007.4	-	6	874	c.705C>T	c.(703-705)gtC>gtT	p.V235V	KCNH1_ENST00000271751.4_Silent_p.V235V	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	235					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CATTATAAGGGACCAAGATGG	0.423000													12	77					0	0	0.001368	0	0
COL1A2	1278	broad.mit.edu	37	7	94041986	94041986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:94041986G>A	ENST00000297268.6	+	25	1966	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	499					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGACCCAAAGGCCCCACTGT	0.527000										HNSCC(75;0.22)			8	41					0	0	0.000443	0	0
FLT3	2322	broad.mit.edu	37	13	28608116	28608116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:28608116C>T	ENST00000380982.4	-	15	1931	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	FLT3_ENST00000241453.7_Missense_Mutation_p.G617E|FLT3_ENST00000537084.1_Missense_Mutation_p.G617E			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	617	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCACCTGATCCTAGTACCTT	0.403000			"""Mis, O"""		"""AML, ALL"""								28	162					0	0	0.001061	0	0
SRSF4	6429	broad.mit.edu	37	1	29475057	29475057	+	Silent	SNP	C	C	A	rs148084661	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:29475057C>A	ENST00000373795.4	-	6	1584	c.1350G>T	c.(1348-1350)tcG>tcT	p.S450S	SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	450	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GGTTTGGTTTCGATTTGGAAT	0.517000													24	142					2.89027e-11	1.42899e-10	0.002299	1	0
OR10P1	121130	broad.mit.edu	37	12	56030861	56030861	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:56030861C>G	ENST00000309675.2	+	1	218	c.186C>G	c.(184-186)ttC>ttG	p.F62L		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTACTTCTTCCTGCGCCAAC	0.602000													12	77					0	0	0.000958	0	0
ENPEP	2028	broad.mit.edu	37	4	111397936	111397936	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:111397936C>T	ENST00000265162.5	+	1	708	c.366C>T	c.(364-366)tcC>tcT	p.S122S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	122					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)	TGAGCATCTCCATCAACCTGA	0.632000													12	149					0	0	0.001368	0	0
OR2V2	285659	broad.mit.edu	37	5	180582469	180582469	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:180582469A>G	ENST00000328275.1	+	1	527	c.527A>G	c.(526-528)aAc>aGc	p.N176S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	176					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)			AGGAAGGTGAACCATTTCTTC	0.473000													30	188					0	0	0.000692	0	0
ETV1	2115	broad.mit.edu	37	7	13971334	13971334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:13971334G>A	ENST00000343495.5	-	8	1279	c.541C>T	c.(541-543)Cct>Tct	p.P181S	ETV1_ENST00000405192.2_Missense_Mutation_p.P199S|ETV1_ENST00000242066.5_Missense_Mutation_p.P181S|ETV1_ENST00000405218.2_Missense_Mutation_p.P199S|ETV1_ENST00000420159.2_Missense_Mutation_p.P141S|ETV1_ENST00000405358.4_Missense_Mutation_p.P213S|ETV1_ENST00000403527.1_Missense_Mutation_p.P159S|ETV1_ENST00000399357.3_Missense_Mutation_p.P96S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Missense_Mutation_p.P199S|ETV1_ENST00000403685.1_Missense_Mutation_p.P181S			P50549	ETV1_HUMAN	ets variant 1	199					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCGGCAAAGGAGGAAAGGAG	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								10	39					0	0	0.000978	0	0
OR8H1	219469	broad.mit.edu	37	11	56058178	56058178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:56058178G>A	ENST00000313022.2	-	1	388	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCTACGTAGCGATCATAGGCC	0.438000													30	85					0	0	0.001271	0	0
PTPN13	5783	broad.mit.edu	37	4	87679897	87679897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:87679897C>T	ENST00000436978.1	+	22	3860	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	PTPN13_ENST00000411767.2_Missense_Mutation_p.A1127V|PTPN13_ENST00000316707.6_Missense_Mutation_p.A936V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1127V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1108V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1127	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTTCAGTTGCCCCTGGAGGA	0.378000													50	175					0	0	0.000781	0	0
CPEB1	64506	broad.mit.edu	37	15	83222286	83222286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:83222286G>A	ENST00000563800.1	-	7	2800	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	CPEB1_ENST00000261723.6_Missense_Mutation_p.R335C|CPEB1_ENST00000562019.1_Missense_Mutation_p.R332C|CPEB1_ENST00000450751.2_Missense_Mutation_p.R257C|CPEB1_ENST00000423133.2_Missense_Mutation_p.R257C|CPEB1_ENST00000568128.1_Missense_Mutation_p.R332C|CPEB1_ENST00000568757.1_Missense_Mutation_p.R257C|RP11-152F13.10_ENST00000562833.1_Silent_p.S66S|CPEB1_ENST00000398591.2_Missense_Mutation_p.R257C|CPEB1_ENST00000398592.2_Missense_Mutation_p.R106C|CPEB1_ENST00000564522.1_Missense_Mutation_p.R257C|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	332	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAAAAACACGGAAGGTGTTA	0.458000													4	26					0	0	0.000248	0	0
CLCN1	1180	broad.mit.edu	37	7	143036627	143036627	+	Missense_Mutation	SNP	G	G	A	rs121912807		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:143036627G>A	ENST00000343257.2	+	14	1582	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	499					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAGGCTGGTAGGAGAAATCAT	0.443000													6	81					0	0	0.001984	0	0
LCP1	3936	broad.mit.edu	37	13	46716547	46716547	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:46716547T>A	ENST00000398576.2	-	16	1770	c.1382A>T	c.(1381-1383)aAc>aTc	p.N461I	LCP1_ENST00000435666.2_Missense_Mutation_p.N30I|LCP1_ENST00000323076.2_Missense_Mutation_p.N461I			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	461	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TACCGCGTAGTTACAATTCTC	0.383000			T	BCL6	NHL								6	54					0	0	0.001984	0	0
LECT1	11061	broad.mit.edu	37	13	53282744	53282744	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:53282744C>G	ENST00000448904.2	-	6	826	c.716G>C	c.(715-717)gGa>gCa	p.G239A	LECT1_ENST00000377962.3_Missense_Mutation_p.G239A	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	239					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATTCAGTCTTCCAGCGCCTGG	0.448000													15	74					0	0	0.000423	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:22664240T>G	ENST00000426066.1	+	0	763					NR_027293.1																						GATAAGCTGCTGATGAGCGGT	0.532000													4	87					0	0	0.000248	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058027	152058027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152058027C>T	ENST00000368806.1	-	3	2195	c.2131G>A	c.(2131-2133)Gga>Aga	p.G711R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	711							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTGCTCTTCCTTTCTCTTCT	0.443000													26	147					0	0	0.000586	0	0
CACNA1D	776	broad.mit.edu	37	3	53844263	53844263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:53844263C>T	ENST00000288139.3	+	48	6308	c.6190C>T	c.(6190-6192)Ccc>Tcc	p.P2064S	CACNA1D_ENST00000422281.2_Missense_Mutation_p.P2020S|CACNA1D_ENST00000350061.5_Missense_Mutation_p.P2044S|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2044					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTGACTGTCCCCAGCAGCTT	0.622000													7	54					0	0	0.000157	0	0
SBK1	388228	broad.mit.edu	37	16	28330371	28330371	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:28330371C>T	ENST00000341901.4	+	3	1071	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	94	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGAAGAACTTCCTACGGGAGG	0.522000													14	134					0	0	0.000423	0	0
C7	730	broad.mit.edu	37	5	40958291	40958291	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:40958291T>C	ENST00000313164.9	+	11	1776	c.1417T>C	c.(1417-1419)Tgt>Cgt	p.C473R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	473	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGGGACCCATTGTCTGTGCCA	0.502000													8	83					0	0	0.000443	0	0
PSD2	84249	broad.mit.edu	37	5	139216477	139216477	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:139216477C>T	ENST00000274710.3	+	10	1690	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	495					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCGAATCCTGGATGGTG	0.577000													11	79					0	0	0.002450	0	0
LRRC49	54839	broad.mit.edu	37	15	71302157	71302157	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:71302157C>T	ENST00000260382.5	+	13	1679	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	LRRC49_ENST00000443425.2_Silent_p.F429F|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Silent_p.F179F|LRRC49_ENST00000560158.2_Silent_p.F161F|LRRC49_ENST00000544974.2_Silent_p.F463F|LRRC49_ENST00000560369.1_Silent_p.F478F	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	473						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACCTTAAATTCAAGGAAACAA	0.358000													17	60					0	0	0.000743	0	0
OR5L1	219437	broad.mit.edu	37	11	55579281	55579281	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:55579281C>T	ENST00000333973.2	+	1	428	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	113					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)				CTGAGGTCTTCCTGCTGGCCG	0.483000													24	138					0	0	0.002780	0	0
PTPRB	5787	broad.mit.edu	37	12	71029486	71029486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:71029486C>T	ENST00000334414.6	-	2	460	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G139E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G138E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				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)			GACCAGTTTTCCCTCCTTGTT	0.413000													5	64					0	0	0.001984	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572239	101572239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:101572239C>T	ENST00000326172.5	+	5	984	c.869C>T	c.(868-870)tCt>tTt	p.S290F	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S190F|NFKBIZ_ENST00000326151.5_Intron	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TACCAGTATTCTCCACAGAAC	0.512000													9	82					0	0	0.000673	0	0
CCDC170	80129	broad.mit.edu	37	6	151894598	151894598	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:151894598T>C	ENST00000367290.5	+	6	1153	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	CCDC170_ENST00000239374.7_Missense_Mutation_p.M355T			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	355																	ATTCGAGAAATGGACAGCCGG	0.493000													8	48					0	0	0.000673	0	0
SCN5A	6331	broad.mit.edu	37	3	38620983	38620983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38620983C>T	ENST00000413689.1	-	18	3425	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	SCN5A_ENST00000423572.2_Splice_Site_p.E1077_splice|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1078K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1078K|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1078K|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000455624.2_Splice_Site_p.E1077_splice|SCN5A_ENST00000443581.1_Splice_Site_p.E1077_splice	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1078					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCTGGGATTCCTGCTGAAAA	0.647000													6	29					0	0	0.000157	0	0
USP48	84196	broad.mit.edu	37	1	22083050	22083050	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:22083050T>C	ENST00000308271.9	-	3	1049	c.401A>G	c.(400-402)cAa>cGa	p.Q134R	USP48_ENST00000400301.1_Missense_Mutation_p.Q134R|USP48_ENST00000529637.1_Missense_Mutation_p.Q134R|USP48_ENST00000421625.2_Missense_Mutation_p.Q134R	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	134					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q134R(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTTTCTTCTTGGATGCCGTC	0.423000													7	255					0	0	0.000443	0	0
CPA6	57094	broad.mit.edu	37	8	68396082	68396082	+	Nonsense_Mutation	SNP	C	C	T	rs139178030	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:68396082C>T	ENST00000297770.4	-	8	974	c.759G>A	c.(757-759)tgG>tgA	p.W253*	CPA6_ENST00000297769.4_Nonsense_Mutation_p.W105*|CPA6_ENST00000518549.1_Nonsense_Mutation_p.W253*	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	253					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTTTTCTCCAAAATCGAT	0.398000													14	162					0	0	0.002450	0	0
PTPRB	5787	broad.mit.edu	37	12	70933765	70933765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:70933765G>A	ENST00000334414.6	-	24	5676	c.5632C>T	c.(5632-5634)Cgt>Tgt	p.R1878C	PTPRB_ENST00000451516.2_Missense_Mutation_p.R1570C|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1570C|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1570C|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1790C|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1660C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1660	Tyrosine-protein phosphatase.				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)			CGATCCCTACGAATGCTCAGA	0.408000													5	47					0	0	0.000602	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175049	102175049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:102175049C>T	ENST00000306176.1	+	4	488	c.388C>T	c.(388-390)Cct>Tct	p.P130S	ZPLD1_ENST00000466937.1_Missense_Mutation_p.P114S|ZPLD1_ENST00000491959.1_Missense_Mutation_p.P114S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	114	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATCCACAATTCCTGGAGTCAG	0.348000													7	64					0	0	0.000274	0	0
RALGPS2	55103	broad.mit.edu	37	1	178802587	178802587	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:178802587T>C	ENST00000367635.3	+	8	847	c.509T>C	c.(508-510)tTt>tCt	p.F170S	RALGPS2_ENST00000367634.2_Missense_Mutation_p.F170S|RALGPS2_ENST00000324778.4_Missense_Mutation_p.F135S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	170	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						AAAACTACCTTTGAAAAATTA	0.289000													20	66					0	0	0.001216	0	0
FGFR4	2264	broad.mit.edu	37	5	176524534	176524534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:176524534G>A	ENST00000292408.4	+	18	2511	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N	FGFR4_ENST00000393637.1_Missense_Mutation_p.D716N|FGFR4_ENST00000393648.2_Missense_Mutation_p.D688N|FGFR4_ENST00000502906.1_Missense_Mutation_p.D756N|FGFR4_ENST00000292410.3_Missense_Mutation_p.D716N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	756					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACAGTACCTCGACCTCCGCCT	0.672000										TSP Lung(9;0.080)			10	58					0	0	0.000978	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000503	16000503	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:16000503C>T	ENST00000221700.5	-	7	743	c.647_splice	c.e7-1	p.E216_splice	CYP4F2_ENST00000592328.1_Splice_Site_p.E216_splice|CYP4F2_ENST00000011989.7_Splice_Site_p.E67_splice	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	216					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CACTGGGTTTCCTGCAGGATA	0.468000													22	137					0	0	0.000878	0	0
DSCAM	1826	broad.mit.edu	37	21	41741076	41741076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:41741076C>T	ENST00000400454.1	-	4	1082	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	202	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGGTGTATCGATGCCGCGT	0.433000													14	73					0	0	0.002450	0	0
DENND6A	201627	broad.mit.edu	37	3	57616707	57616707	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:57616707T>C	ENST00000311128.5	-	16	1424		c.e16-2		RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		ATATCTTTCCTAAAACCAAGA	0.313000													8	80					0	0	0.000274	0	0
PLCE1	51196	broad.mit.edu	37	10	96018860	96018860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:96018860C>T	ENST00000260766.3	+	13	4401	c.3767C>T	c.(3766-3768)aCc>aTc	p.T1256I	PLCE1_ENST00000371375.1_Missense_Mutation_p.T948I|PLCE1_ENST00000371380.2_Missense_Mutation_p.T1256I|PLCE1_ENST00000371385.3_Missense_Mutation_p.T948I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1256					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCACTCTACACCAACCTGACA	0.473000													22	114					0	0	0.000586	0	0
CAD	790	broad.mit.edu	37	2	27457439	27457439	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:27457439C>T	ENST00000264705.4	+	23	3834	c.3672C>T	c.(3670-3672)ccC>ccT	p.P1224P	CAD_ENST00000403525.1_Silent_p.P1161P	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1224	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTCCTTCCCCTTCGTTTCCA	0.557000													32	134					0	0	0.002445	0	0
SLC44A3	126969	broad.mit.edu	37	1	95303320	95303320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:95303320C>T	ENST00000271227.6	+	6	665	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.S156F|SLC44A3_ENST00000467909.1_Missense_Mutation_p.S140F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.S120F|SLC44A3_ENST00000532427.1_Missense_Mutation_p.S108F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.S152F|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	188						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAGTGCTACTCCCTATTTGCA	0.378000													27	107					0	0	0.001061	0	0
ICAM3	3385	broad.mit.edu	37	19	10449497	10449497	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:10449497G>A	ENST00000160262.5	-	2	412	c.204C>T	c.(202-204)tcC>tcT	p.S68S	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	68	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCTTTGATAGGGACGTCTCCA	0.567000													14	50					0	0	0.000566	0	0
TBC1D21	161514	broad.mit.edu	37	15	74173842	74173842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:74173842G>A	ENST00000300504.2	+	2	246	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TBC1D21_ENST00000562056.1_Missense_Mutation_p.E55K|TBC1D21_ENST00000535547.2_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	55						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TAACATCCTGGAAAGGGTGGG	0.542000													12	55					0	0	0.002450	0	0
LEPR	3953	broad.mit.edu	37	1	66101934	66101934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:66101934C>T	ENST00000349533.6	+	20	2919	c.2734C>T	c.(2734-2736)Ctt>Ttt	p.L912F	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	912					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGTCCTCTTCTTTTGGAGCC	0.358000													42	221					0	0	0.000781	0	0
MMP3	4314	broad.mit.edu	37	11	102708107	102708107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:102708107C>T	ENST00000299855.5	-	9	1511	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	419	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAGCCTGGCTCCATGGAATTT	0.393000													13	78					0	0	0.002450	0	0
PPIL1	51645	broad.mit.edu	37	6	36823601	36823601	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:36823601G>A	ENST00000373699.5	-	4	740	c.489C>T	c.(487-489)taC>taT	p.Y163Y	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	163	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ACCCAGAAGGGTATGCCTTAA	0.498000													21	85					0	0	0.000721	0	0
RNF149	284996	broad.mit.edu	37	2	101924848	101924848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:101924848G>A	ENST00000295317.3	-	1	310	c.203C>T	c.(202-204)tCg>tTg	p.S68L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	68	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CTCCTTGGGCGAGCTGTCGCC	0.706000													6	39					0	0	0.001168	0	0
HHAT	55733	broad.mit.edu	37	1	210796966	210796966	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:210796966G>C	ENST00000367010.1	+	11	1569	c.1342G>C	c.(1342-1344)Ggg>Cgg	p.G448R	HHAT_ENST00000545781.1_Missense_Mutation_p.G385R|HHAT_ENST00000413764.2_Missense_Mutation_p.G448R|HHAT_ENST00000391905.3_Missense_Mutation_p.G448R|HHAT_ENST00000541565.1_Missense_Mutation_p.G311R|HHAT_ENST00000367009.1_Missense_Mutation_p.G138R|HHAT_ENST00000308852.6_Missense_Mutation_p.G403R|HHAT_ENST00000545154.1_Missense_Mutation_p.G449R|HHAT_ENST00000537898.1_Missense_Mutation_p.G383R|HHAT_ENST00000261458.3_Missense_Mutation_p.G448R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	448	GTP-binding (Probable).		G -> E (in a melanoma cell line; abolishes GTP-binding).		multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.G448W(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGTATTTCTTGGGGGCAATGA	0.488000													16	260					0	0	0.000423	0	0
ECM2	1842	broad.mit.edu	37	9	95284988	95284988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:95284988C>T	ENST00000344604.5	-	2	310	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ECM2_ENST00000375540.1_Missense_Mutation_p.G54E|ECM2_ENST00000444490.2_Missense_Mutation_p.G54E|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	54					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTGCTGAATTCCAAGCTGTCT	0.373000													9	139					0	0	0.001368	0	0
DUSP27	92235	broad.mit.edu	37	1	167096187	167096187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:167096187G>A	ENST00000361200.2	+	6	1985	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E607K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E607K|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	607					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAACAAGGAGGAGGTGGTGGA	0.612000													4	34					0	0	0.000602	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999120	92999120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:92999120C>T	ENST00000523629.1	-	8	1526	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D321N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D369N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D331N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D321N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D358N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D321N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D331N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	358	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTTACATGGTCAAGATGTTTC	0.378000													16	121					0	0	0.001216	0	0
AHDC1	27245	broad.mit.edu	37	1	27876232	27876232	+	Silent	SNP	G	G	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:27876232G>T	ENST00000374011.2	-	6	3363	c.2395C>A	c.(2395-2397)Cgg>Agg	p.R799R	AHDC1_ENST00000247087.5_Silent_p.R799R|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	799	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCAAAGGCCCGGGCCTCGGTC	0.682000													19	82					2.94398e-08	1.44746e-07	0.000958	1	0
CRISPLD2	83716	broad.mit.edu	37	16	84922916	84922916	+	Silent	SNP	G	G	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:84922916G>T	ENST00000262424.5	+	14	1610	c.1386G>T	c.(1384-1386)gtG>gtT	p.V462V	CRISPLD2_ENST00000567845.1_Silent_p.V461V	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	462	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TGATGCCCGTGGATAAAAAGA	0.562000													12	85					1.41608e-15	7.02745e-15	0.001855	1	0
CNOT4	4850	broad.mit.edu	37	7	135047869	135047869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:135047869G>A	ENST00000541284.1	-	12	2240	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	CNOT4_ENST00000423368.2_Missense_Mutation_p.S566F|CNOT4_ENST00000451834.1_Missense_Mutation_p.S634F|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Missense_Mutation_p.S563F	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	309					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGCCTGAAGGGATTTTAGCCA	0.522000													26	162					0	0	0.001512	0	0
DSCAM	1826	broad.mit.edu	37	21	41711182	41711182	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:41711182C>T	ENST00000400454.1	-	7	1848	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	457	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACGTGATCATCTGGCTGATGC	0.597000													13	35					0	0	0.001855	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348650	49348650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:49348650G>A	ENST00000263265.6	-	16	2275	c.1720C>T	c.(1720-1722)Cct>Tct	p.P574S	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P549S	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	574						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TGTGGGGAAGGGAGGTGGCGA	0.572000													6	75					0	0	0.001984	0	0
ERBB4	2066	broad.mit.edu	37	2	212248441	212248441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:212248441G>A	ENST00000342788.4	-	28	4136	c.3826C>T	c.(3826-3828)Cct>Tct	p.P1276S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1266S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1260S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1276					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCCACAATAGGCCGGATCCGC	0.532000										TSP Lung(8;0.080)			6	72					0	0	0.001168	0	0
ZIM3	114026	broad.mit.edu	37	19	57646378	57646378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:57646378C>T	ENST00000269834.1	-	5	1712	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTTTTTGTCCAGTATGGGTT	0.418000													21	172					0	0	0.002299	0	0
C9	735	broad.mit.edu	37	5	39285309	39285309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:39285309C>T	ENST00000263408.4	-	11	1767	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	558					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCTATTTTTCATTGGGGAAC	0.408000													16	60					0	0	0.002299	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885124	24885124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:24885124C>T	ENST00000382554.3	+	9	4487	c.4169C>T	c.(4168-4170)cCc>cTc	p.P1390L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1390					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGCTCCTGCCCCTCTGGAGG	0.627000													9	73					0	0	0.000274	0	0
TMEM186	25880	broad.mit.edu	37	16	8890377	8890377	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:8890377C>G	ENST00000333050.6	-	2	107	c.74G>C	c.(73-75)tGg>tCg	p.W25S	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	25						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ACTGCAGCACCACAGCCCATG	0.552000													4	65					0	0	0.000248	0	0
PREX2	80243	broad.mit.edu	37	8	69058575	69058575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:69058575C>T	ENST00000288368.4	+	34	4496	c.4219C>T	c.(4219-4221)Ctt>Ttt	p.L1407F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1407					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCATCCTGTTCTTTTTGCACA	0.318000													10	66					0	0	0.000978	0	0
PDE4B	5142	broad.mit.edu	37	1	66827409	66827409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:66827409C>T	ENST00000423207.2	+	8	1393	c.908C>T	c.(907-909)tCa>tTa	p.S303L	PDE4B_ENST00000371045.5_Missense_Mutation_p.S146L|PDE4B_ENST00000371049.3_Missense_Mutation_p.S318L|PDE4B_ENST00000329654.4_Missense_Mutation_p.S318L|PDE4B_ENST00000480109.2_Missense_Mutation_p.S85L	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	318					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATGCATAGTTCAAGCCTAAAC	0.433000													18	77					0	0	0.000743	0	0
DSG1	1828	broad.mit.edu	37	18	28934521	28934521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:28934521G>A	ENST00000257192.4	+	15	2574	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	DSG1_ENST00000462981.2_Missense_Mutation_p.E147K|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	788					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCTTCCTCAGGAAACAGAGCC	0.488000													8	98					0	0	0.000157	0	0
COL1A1	1277	broad.mit.edu	37	17	48262930	48262930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:48262930G>A	ENST00000225964.5	-	51	4446	c.4328C>T	c.(4327-4329)gCc>gTc	p.A1443V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1443	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GTCCAAGGGGGCCACATCGAT	0.607000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						15	88					0	0	0.000423	0	0
SERPINH1	871	broad.mit.edu	37	11	75282859	75282859	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:75282859A>G	ENST00000524558.1	+	5	2423	c.988A>G	c.(988-990)Att>Gtt	p.I330V	SERPINH1_ENST00000533603.1_Missense_Mutation_p.I330V|SERPINH1_ENST00000525876.1_Missense_Mutation_p.I113V|SERPINH1_ENST00000358171.3_Missense_Mutation_p.I330V			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	330					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GACTGAGGCCATTGACAAGAA	0.602000													8	41					0	0	0.000673	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675119	40675119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:40675119C>T	ENST00000416151.2	+	1	198	c.83C>T	c.(82-84)cCg>cTg	p.P28L	KNSTRN_ENST00000448395.2_Missense_Mutation_p.P28L|KNSTRN_ENST00000249776.8_Missense_Mutation_p.P28L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CACCCACTTCCGCCTAGCTAC	0.567000													15	56					0	0	0.000566	0	0
PZP	5858	broad.mit.edu	37	12	9353640	9353640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:9353640C>T	ENST00000261336.2	-	6	546	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	PZP_ENST00000381997.2_Missense_Mutation_p.R42Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGTGCAATTCGATTTCTTCT	0.443000													8	86					0	0	0.000157	0	0
MAGI1	9223	broad.mit.edu	37	3	65367727	65367727	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:65367727G>A	ENST00000330909.8	-	17	2609	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	MAGI1_ENST00000402939.2_Silent_p.I842I|MAGI1_ENST00000497477.2_Silent_p.I842I|MAGI1_ENST00000483466.1_Silent_p.I870I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	870	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCAGTGGTACGATGTGACCAA	0.443000													11	77					0	0	0.000673	0	0
KSR2	283455	broad.mit.edu	37	12	118199021	118199021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:118199021G>A	ENST00000425217.1	-	4	748	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	KSR2_ENST00000339824.5_Missense_Mutation_p.P261S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	261	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P293S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCGCGGCGGGGTGCGGACC	0.746000													13	102					0	0	0.000309	0	0
EPHB1	2047	broad.mit.edu	37	3	134670597	134670597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:134670597C>T	ENST00000398015.3	+	3	878	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	170						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTCTTACTCGGAATGGTTT	0.463000													26	217					0	0	0.002445	0	0
AMELX	265	broad.mit.edu	37	X	11316686	11316686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:11316686G>A	ENST00000380712.3	+	6	273	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.E55K|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.E39K	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	55					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CTATGGTTACGAGCCCATGGG	0.547000													6	56					0	0	0.000157	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156400	70156400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:70156400C>T	ENST00000335568.5	+	5	1183	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	394					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTAGGCATTCCATTGTTTTGG	0.463000													32	179					0	0	0.000815	0	0
IVL	3713	broad.mit.edu	37	1	152882714	152882714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152882714G>A	ENST00000368764.3	+	2	505	c.441G>A	c.(439-441)atG>atA	p.M147I	IVL_ENST00000392667.2_Start_Codon_SNP_p.M1I			P07476	INVO_HUMAN	involucrin	147					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGGGAATGAAGAAAGAGC	0.532000													7	51					0	0	0.000274	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875797	75875797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:75875797G>A	ENST00000266659.3	+	2	559	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	120					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CTGGTATGACGAAATCCAGGA	0.453000													9	56					0	0	0.000443	0	0
SCN5A	6331	broad.mit.edu	37	3	38645372	38645372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38645372C>T	ENST00000413689.1	-	12	1914	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	SCN5A_ENST00000423572.2_Missense_Mutation_p.G574E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G574E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G574E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G574E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G574E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G574E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G574E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G574E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G574E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	574					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACTGGGCTGTCCCTGGGCACT	0.627000													27	88					0	0	0.001271	0	0
ANK3	288	broad.mit.edu	37	10	61894132	61894132	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:61894132C>T	ENST00000280772.1	-	25	2930		c.e25-1		ANK3_ENST00000355288.2_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000503366.1_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGAGCGGAGGCTGTTGTATTT	0.408000													13	19					0	0	0.001368	0	0
IL36RN	26525	broad.mit.edu	37	2	113820103	113820103	+	Missense_Mutation	SNP	G	G	A	rs144420774		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:113820103G>A	ENST00000393200.2	+	5	478	c.317G>A	c.(316-318)gGg>gAg	p.G106E	IL36RN_ENST00000346807.3_Missense_Mutation_p.G106E	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	106						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGGACATGGGGCTCACCTCC	0.607000													7	50					0	0	0.001984	0	0
CFHR5	81494	broad.mit.edu	37	1	196952077	196952077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:196952077C>T	ENST00000367414.5	+	2	249	c.193C>T	c.(193-195)Cct>Tct	p.P65S	CFHR5_ENST00000256785.4_Missense_Mutation_p.P41S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	41	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGATTATAACCCTTTTTCCCA	0.338000													10	83					0	0	0.000443	0	0
RYR2	6262	broad.mit.edu	37	1	237660020	237660020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:237660020C>T	ENST00000366574.2	+	20	2488	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F	RYR2_ENST00000360064.6_Missense_Mutation_p.S722F|RYR2_ENST00000542537.1_Missense_Mutation_p.S708F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	724	B30.2/SPRY 1.				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)			GATCTCTTCTCCTATGGATTT	0.493000													26	170					0	0	0.000878	0	0
DSCAM	1826	broad.mit.edu	37	21	41414516	41414516	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:41414516A>G	ENST00000400454.1	-	32	5945	c.5468T>C	c.(5467-5469)aTg>aCg	p.M1823T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1823					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGCTCTTCCATCTTGGCGTG	0.537000													10	83					0	0	0.000978	0	0
SYT10	341359	broad.mit.edu	37	12	33579198	33579198	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:33579198C>T	ENST00000228567.3	-	2	680	c.384G>A	c.(382-384)gaG>gaA	p.E128E	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	128						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)					TTATTGCAGGCTCAATAGCTT	0.393000													15	158					0	0	0.000743	0	0
MPP3	4356	broad.mit.edu	37	17	41879100	41879100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:41879100G>A	ENST00000398393.1	-	18	2062	c.1802C>T	c.(1801-1803)aCt>aTt	p.T601I	MPP3_ENST00000398389.4_Missense_Mutation_p.T576I			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	576					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TACCCAGTGAGTGTCCTTGCT	0.532000													9	85					0	0	0.000978	0	0
ATP2B3	492	broad.mit.edu	37	X	152818590	152818590	+	Missense_Mutation	SNP	G	G	A	rs139853349	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:152818590G>A	ENST00000370186.1	+	11	2205	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	ATP2B3_ENST00000263519.4_Missense_Mutation_p.D641N|ATP2B3_ENST00000349466.2_Missense_Mutation_p.D641N|ATP2B3_ENST00000393842.1_Missense_Mutation_p.D627N|ATP2B3_ENST00000370181.2_Missense_Mutation_p.D627N|ATP2B3_ENST00000359149.3_Missense_Mutation_p.D641N			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	641					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCTTGCGATGGCCTCCG	0.607000													16	22					0	0	0.000743	0	0
BOC	91653	broad.mit.edu	37	3	112987254	112987254	+	Missense_Mutation	SNP	G	G	A	rs149634735		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:112987254G>A	ENST00000495514.1	+	5	1189	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	BOC_ENST00000355385.3_Missense_Mutation_p.R162Q|BOC_ENST00000273395.4_Missense_Mutation_p.R162Q			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	162	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCCCAGGTCCGGTACAGCGTC	0.592000													5	21					0	0	0.000157	0	0
PREX2	80243	broad.mit.edu	37	8	69020443	69020443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:69020443C>T	ENST00000288368.4	+	24	3092	c.2815C>T	c.(2815-2817)Cat>Tat	p.H939Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	939					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TACCAACTGCCATGTCAATGT	0.428000													5	56					0	0	0.000602	0	0
DDX42	11325	broad.mit.edu	37	17	61895519	61895519	+	Missense_Mutation	SNP	G	G	T	rs146221475		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:61895519G>T	ENST00000578681.1	+	19	3179	c.2578G>T	c.(2578-2580)Ggg>Tgg	p.G860W	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000359353.5_Missense_Mutation_p.G741W|DDX42_ENST00000583590.1_Missense_Mutation_p.G860W|DDX42_ENST00000457800.2_Missense_Mutation_p.G860W|DDX42_ENST00000389924.2_Missense_Mutation_p.G860W	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	860	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.G860R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCATCGGCACGGGGAGAACAG	0.567000													5	107					0.00198382	0.00962895	0.001984	1	0
USP2	9099	broad.mit.edu	37	11	119229960	119229960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:119229960G>A	ENST00000260187.2	-	5	1336	c.1042C>T	c.(1042-1044)Ccg>Tcg	p.P348S	USP2_ENST00000455332.2_Missense_Mutation_p.P105S|USP2_ENST00000525735.1_Missense_Mutation_p.P139S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	348					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ACAAAGCGCGGTGCGTATCTC	0.502000													6	31					0	0	0.000157	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800494	45800494	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:45800494C>T	ENST00000358525.4	-	11	1870	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Silent_p.R548R	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	585					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCGTCTCCCCTCTTGAGGC	0.592000													9	55					0	0	0.000673	0	0
FETUB	26998	broad.mit.edu	37	3	186358421	186358421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:186358421G>A	ENST00000265029.3	+	1	273	c.172G>A	c.(172-174)Gat>Aat	p.D58N	FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.D58N|FETUB_ENST00000382136.3_Missense_Mutation_p.D58N|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.D58N	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	58	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGACAGAAAGGATGGCTATGT	0.582000													15	164					0	0	0.000566	0	0
MEGF8	1954	broad.mit.edu	37	19	42848171	42848171	+	Silent	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:42848171T>C	ENST00000334370.4	+	10	2369	c.1734T>C	c.(1732-1734)agT>agC	p.S578S	MEGF8_ENST00000251268.6_Silent_p.S578S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	578	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGAATGCAGTTGGTGCCAAG	0.627000													5	44					0	0	0.001168	0	0
GBF1	8729	broad.mit.edu	37	10	104135128	104135128	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:104135128C>T	ENST00000369983.3	+	30	3930	c.3670C>T	c.(3670-3672)Ctg>Ttg	p.L1224L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1224					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCTGCTCTCCCTGCGCATTTT	0.577000													17	71					0	0	0.001216	0	0
ERAP2	64167	broad.mit.edu	37	5	96251465	96251465	+	Silent	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:96251465T>C	ENST00000437043.3	+	18	3442	c.2731T>C	c.(2731-2733)Ttg>Ctg	p.L911L	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L866L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	911					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CAAGGATAAGTTGCAAGAGGT	0.318000													15	149					0	0	0.000743	0	0
ELAVL4	1996	broad.mit.edu	37	1	50572066	50572066	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:50572066G>A	ENST00000357083.4	+	1	102		c.e1+1		ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000448907.2_Intron	NM_001144775.1	NP_001138247.1	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4						mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTCATTTATGGTAAGAGGAAT	0.453000													8	19					0	0	0.000157	0	0
C20orf26	26074	broad.mit.edu	37	20	20144804	20144804	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:20144804C>T	ENST00000245957.5	+	11	1213	c.1137C>T	c.(1135-1137)ccC>ccT	p.P379P	C20orf26_ENST00000451767.2_Silent_p.P379P|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.P379P|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	379										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)		ACTTCCGCCCCATCTACAGGG	0.502000													10	89					0	0	0.000673	0	0
CD1D	912	broad.mit.edu	37	1	158151902	158151902	+	Nonsense_Mutation	SNP	C	C	T	rs149673076	by1000genomes	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:158151902C>T	ENST00000368171.3	+	4	908	c.409C>T	c.(409-411)Caa>Taa	p.Q137*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	137					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGTAGCATTTCAAGGAAAAGA	0.507000													28	204					0	0	0.000721	0	0
CPD	1362	broad.mit.edu	37	17	28772936	28772936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:28772936C>T	ENST00000225719.4	+	12	2847	c.2771C>T	c.(2770-2772)tCa>tTa	p.S924L	CPD_ENST00000543464.2_Missense_Mutation_p.S677L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	924	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CGCTCCTCCTCAAATCTGGCT	0.393000													15	124					0	0	0.000309	0	0
PCK1	5105	broad.mit.edu	37	20	56140627	56140627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:56140627G>A	ENST00000319441.4	+	10	1800	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	PCK1_ENST00000543666.1_Missense_Mutation_p.G229R	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	546					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGGATCGATGGAAAAGCCAG	0.547000													6	56					0	0	0.001168	0	0
OR13C8	138802	broad.mit.edu	37	9	107331487	107331487	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:107331487C>T	ENST00000335040.1	+	1	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAGAATTTTTCCTGGTAGGGC	0.413000													14	86					0	0	0.001855	0	0
TGM2	7052	broad.mit.edu	37	20	36784484	36784484	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:36784484G>A	ENST00000361475.2	-	3	371	c.198C>T	c.(196-198)gcC>gcT	p.A66A	TGM2_ENST00000536724.1_Silent_p.A6A|TGM2_ENST00000536701.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	66					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCTGGCTAGGGGCTGGGCCTG	0.667000													5	29					0	0	0.001984	0	0
SPTBN2	6712	broad.mit.edu	37	11	66478105	66478105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:66478105G>A	ENST00000533211.1	-	10	1352	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.Q341*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.Q341*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	341					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCTGGTTCTGGACCCCGCTA	0.622000													4	25					0	0	0.001168	0	0
COG7	91949	broad.mit.edu	37	16	23415116	23415116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:23415116G>A	ENST00000307149.5	-	13	1887	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	568					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGCGCTGCTCGAGGTGCAGCC	0.502000													11	43					0	0	0.000673	0	0
DNAH5	1767	broad.mit.edu	37	5	13859660	13859660	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:13859660G>A	ENST00000265104.4	-	30	4955	c.4851C>T	c.(4849-4851)aaC>aaT	p.N1617N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1617	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCTGTTGAGTTGGAAAGGT	0.428000									Kartagener syndrome				35	133					0	0	0.000954	0	0
TTN	7273	broad.mit.edu	37	2	179477040	179477040	+	Missense_Mutation	SNP	C	C	T	rs148018042	by1000genomes	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179477040C>T	ENST00000589042.1	-	266	50436	c.50212G>A	c.(50212-50214)Gaa>Aaa	p.E16738K	TTN_ENST00000342992.6_Missense_Mutation_p.E14170K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7798K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15097K|TTN_ENST00000342175.6_Missense_Mutation_p.E7865K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7673K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15097	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E7865K(1)|p.E7673K(1)|p.E14170K(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)			TCCTCAATTTCGGTGTAGTCG	0.453000													8	53					0	0	0.000673	0	0
APOB	338	broad.mit.edu	37	2	21230873	21230873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:21230873G>A	ENST00000233242.1	-	26	8994	c.8867C>T	c.(8866-8868)tCc>tTc	p.S2956F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2956					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S2956F(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTCCAAAGGAAGTGAGGGG	0.408000													107	475					0	0	0.000781	0	0
BAZ1A	11177	broad.mit.edu	37	14	35231092	35231092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:35231092G>A	ENST00000360310.1	-	24	4681	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S	BAZ1A_ENST00000358716.4_Missense_Mutation_p.P1340S|BAZ1A_ENST00000382422.2_Missense_Mutation_p.P1372S	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1372					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GGGAAGTTGGGACTATTTTCT	0.413000													7	141					0	0	0.000157	0	0
DNAH5	1767	broad.mit.edu	37	5	13824441	13824441	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:13824441A>G	ENST00000265104.4	-	39	6550	c.6444_splice	c.e39-1	p.V2149_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2149	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCATAATGAACCTAGAGAAT	0.378000									Kartagener syndrome				7	44					0	0	0.000157	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616956	77616956	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:77616956C>T	ENST00000521891.2	+	2	1081	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ZFHX4_ENST00000518282.1_Silent_p.F211F|ZFHX4_ENST00000050961.6_Silent_p.F211F|ZFHX4_ENST00000455469.2_Silent_p.F211F|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCAGGCTTTCCCAAATACCT	0.463000										HNSCC(33;0.089)			10	44					0	0	0.000978	0	0
ZNF208	7757	broad.mit.edu	37	19	22156964	22156964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:22156964C>T	ENST00000397126.4	-	4	1020	c.872G>A	c.(871-873)gGc>gAc	p.G291D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	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)				AAAGGCTTTGCCACATTCTTC	0.388000													10	38					0	0	0.000673	0	0
PRSS55	203074	broad.mit.edu	37	8	10388838	10388838	+	Silent	SNP	C	C	T	rs35035741		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:10388838C>T	ENST00000328655.3	+	3	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PRSS55_ENST00000522210.1_Silent_p.N127N|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	127	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.N127N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGGGACCAACGACTTAACTA	0.507000													12	163					0	0	0.001368	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605268	140605268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:140605268C>T	ENST00000239449.4	+	1	2191	c.2191C>T	c.(2191-2193)Ccc>Tcc	p.P731S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P578S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		731					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)			GCCCGAGGGTCCCTTTCCAGG	0.647000													28	128					0	0	0.001061	0	0
SPAG8	26206	broad.mit.edu	37	9	35809987	35809987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:35809987G>A	ENST00000484764.1	-	7	1422	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	SPAG8_ENST00000396638.2_Missense_Mutation_p.P469L|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR			Q99932	SPAG8_HUMAN	sperm associated antigen 8	96						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TCCGGGACAGGGAAGGGAAGA	0.507000													15	131					0	0	0.002450	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139326	93139326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:93139326G>A	ENST00000344636.3	+	5	458	c.274G>A	c.(274-276)Gag>Aag	p.E92K	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.E92K	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	92	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTTTTATCTTGAGAGCCTGAG	0.403000													26	195					0	0	0.001786	0	0
PHEX	5251	broad.mit.edu	37	X	22095764	22095764	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:22095764T>C	ENST00000379374.4	+	5	1172	c.607T>C	c.(607-609)Ttc>Ctc	p.F203L	PHEX_ENST00000535894.1_Missense_Mutation_p.F106L|PHEX_ENST00000537599.1_Missense_Mutation_p.F203L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	203					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAATTCTGTGTTCATCCGTTT	0.428000													41	103					0	0	0.002522	0	0
MYO18B	84700	broad.mit.edu	37	22	26423606	26423606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26423606G>A	ENST00000335473.7	+	43	7916	c.7666G>A	c.(7666-7668)Gat>Aat	p.D2556N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D2557N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2556N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2556						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						GAAAGACGACGATGTTGCGAG	0.552000													4	18					0	0	0.000602	0	0
PHF2	5253	broad.mit.edu	37	9	96437255	96437255	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:96437255C>T	ENST00000359246.4	+	19	3040	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	PHF2_ENST00000375376.4_Silent_p.S122S	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	891					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCTTTAAGTCCCGGTCGAAGA	0.597000													11	64					0	0	0.000423	0	0
DNAH7	56171	broad.mit.edu	37	2	196602772	196602772	+	Missense_Mutation	SNP	C	C	T	rs62203618		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:196602772C>T	ENST00000312428.6	-	65	12048	c.11948G>A	c.(11947-11949)cGg>cAg	p.R3983Q	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Missense_Mutation_p.R466Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3983					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						TACTCCTCTCCGCTCACTTGT	0.463000													7	61					0	0	0.001984	0	0
ZNF514	84874	broad.mit.edu	37	2	95815412	95815412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:95815412G>A	ENST00000295208.2	-	5	1280	c.818C>T	c.(817-819)tCg>tTg	p.S273L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S273L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AACAAGAGACGAACTCTGGCT	0.418000													18	70					0	0	0.000566	0	0
OR5T1	390155	broad.mit.edu	37	11	56043872	56043872	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:56043872G>T	ENST00000313033.2	+	1	844	c.758G>T	c.(757-759)tGt>tTt	p.C253F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTCTCTACATGTGGAGCTCAC	0.433000													30	124					3.1745e-13	1.57244e-12	0.001512	1	0
CD86	942	broad.mit.edu	37	3	121838341	121838341	+	Missense_Mutation	SNP	C	C	T	rs141281931		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:121838341C>T	ENST00000330540.2	+	7	1066	c.950C>T	c.(949-951)tCg>tTg	p.S317L	CD86_ENST00000393627.2_Missense_Mutation_p.S311L|CD86_ENST00000469710.1_Missense_Mutation_p.S235L|CD86_ENST00000264468.5_Missense_Mutation_p.S104L|CD86_ENST00000493101.1_Missense_Mutation_p.S205L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	317					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTAAAAGTTCGAAGACATCT	0.333000													5	60					0	0	0.001984	0	0
USP33	23032	broad.mit.edu	37	1	78191366	78191366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:78191366G>A	ENST00000370793.1	-	12	1656	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	USP33_ENST00000357428.1_Missense_Mutation_p.S437L|USP33_ENST00000370794.3_Missense_Mutation_p.S406L|USP33_ENST00000370792.3_Missense_Mutation_p.S437L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	437					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGGGCTTGCCGATAAACGTGG	0.403000													10	67					0	0	0.000978	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536262	69536262	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:69536262C>T	ENST00000338206.5	-	1	84	c.75G>A	c.(73-75)aaG>aaA	p.K25K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	25					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACACTAGCACCTTTCCACAGC	0.448000													134	410					0	0	0.000781	0	0
TMEM219	124446	broad.mit.edu	37	16	29974552	29974552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:29974552C>T	ENST00000566848.1	+	1	555	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	TMEM219_ENST00000279396.6_Missense_Mutation_p.L30F|TMEM219_ENST00000561899.2_Missense_Mutation_p.L30F|TMEM219_ENST00000414689.2_Missense_Mutation_p.L30F			Q86XT9	TM219_HUMAN	transmembrane protein 219	30						integral to membrane				large_intestine(1)|lung(1)|prostate(2)	4						CCTGCTGCTCCTTGGCCTCTC	0.657000													18	65					0	0	0.000743	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454471	84454471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:84454471C>T	ENST00000377084.2	-	1	2057	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCGATTTTCGGATGCTGTG	0.448000													32	139					0	0	0.002445	0	0
THSD7B	80731	broad.mit.edu	37	2	138169379	138169379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:138169379C>T	ENST00000409968.1	+	14	3074	c.2896C>T	c.(2896-2898)Cga>Tga	p.R966*	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R966*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R935*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCGCTTTCGAGCAGTAGC	0.507000													8	68					0	0	0.000157	0	0
FZD6	8323	broad.mit.edu	37	8	104337156	104337156	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:104337156C>T	ENST00000358755.4	+	4	1139	c.822C>T	c.(820-822)gtC>gtT	p.V274V	FZD6_ENST00000523739.1_Silent_p.V242V|FZD6_ENST00000522566.1_Silent_p.V274V|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	274					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ACACTGTTGTCCTAGGCTCTC	0.423000													15	50					0	0	0.002450	0	0
TNKS2	80351	broad.mit.edu	37	10	93579031	93579031	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:93579031A>T	ENST00000371627.4	+	4	904	c.525A>T	c.(523-525)gaA>gaT	p.E175D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	175					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCACAGGTGAATATAAGAAAG	0.239000													11	23					0	0	0.000978	0	0
CYFIP2	26999	broad.mit.edu	37	5	156736808	156736808	+	Nonsense_Mutation	SNP	A	A	T	rs3207362		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:156736808A>T	ENST00000347377.6	+	10	1389	c.958A>T	c.(958-960)Aag>Tag	p.K320*	CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.K245*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.K124*|CYFIP2_ENST00000442283.2_De_novo_Start_InFrame|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.K320*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.K294*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.K320*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	320			K -> E (in RNA edited version; dbSNP:rs3207362).		apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGATACATTAAGACCAGTGC	0.577000													30	201					0	0	0.002096	0	0
MST1L	11223	broad.mit.edu	37	1	17083699	17083699	+	RNA	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:17083699C>T	ENST00000455405.2	-	0	889																											TTTTGTCCTCCCCAAAGCATA	0.443000													4	48					0	0	0.001168	0	0
ZNF510	22869	broad.mit.edu	37	9	99522716	99522716	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:99522716G>A	ENST00000375231.1	-	6	1046	c.396C>T	c.(394-396)atC>atT	p.I132I	ZNF510_ENST00000223428.4_Silent_p.I132I			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTGTCTTTGATTTTCTTGT	0.358000													23	122					0	0	0.000586	0	0
NUDT4	11163	broad.mit.edu	37	12	93793087	93793087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:93793087C>T	ENST00000337179.5	+	5	918	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F	NUDT4_ENST00000415493.2_Missense_Mutation_p.L159F|NUDT4_ENST00000548662.1_Missense_Mutation_p.L107F|NUDT4_ENST00000549992.1_Missense_Mutation_p.L107F|NUDT4_ENST00000547014.1_Missense_Mutation_p.L108F	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	159					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AGTCCCTTCCCTTCCGGATAA	0.473000													8	248					0	0	0.000274	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760534	91760534	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:91760534C>T	ENST00000389857.6	-	23	4181	c.4095G>A	c.(4093-4095)gaG>gaA	p.E1365E		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1365					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTTCTGCTCCTCATGGTACT	0.547000													12	173					0	0	0.002450	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247447	55247447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:55247447G>A	ENST00000291860.1	+	8	1135	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	373			E -> D (in allele KIR3DL3*027, allele KIR3DL3*029 and allele KIR3DL3*031).			integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGACTCTGATGAACAAGACCC	0.537000													18	135					0	0	0.001786	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608458	112608458	+	Silent	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:112608458T>G	ENST00000341068.3	-	14	2317	c.1545A>C	c.(1543-1545)ccA>ccC	p.P515P		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	515					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAGAGGGAGCTGGCAGTCCAG	0.403000													10	56					0	0	0.001368	0	0
HHIP	64399	broad.mit.edu	37	4	145573764	145573764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:145573764C>T	ENST00000296575.3	+	2	942	c.287C>T	c.(286-288)tCt>tTt	p.S96F	HHIP_ENST00000434550.2_Missense_Mutation_p.S96F|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	96						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGATATTTTCTGTTACCAAC	0.343000													58	92					0	0	0.000781	0	0
DAB2IP	153090	broad.mit.edu	37	9	124521267	124521267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:124521267C>T	ENST00000408936.3	+	5	789	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	DAB2IP_ENST00000259371.2_Missense_Mutation_p.P175S|DAB2IP_ENST00000309989.1_Missense_Mutation_p.P79S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	203	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCGGTGCATCCCAACAAGGT	0.572000													5	35					0	0	0.000602	0	0
TENM2	57451	broad.mit.edu	37	5	167645775	167645775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:167645775G>A	ENST00000519204.1	+	22	4634	c.4516G>A	c.(4516-4518)Gaa>Aaa	p.E1506K	TENM2_ENST00000403607.2_Missense_Mutation_p.E1451K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1388K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1626K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1627K					teneurin transmembrane protein 2																		TGATGTCACTGAATTGATTGA	0.473000													10	83					0	0	0.000673	0	0
RSPO2	340419	broad.mit.edu	37	8	108913384	108913384	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:108913384G>A	ENST00000276659.5	-	6	1271	c.651C>T	c.(649-651)aaC>aaT	p.N217N	RSPO2_ENST00000517939.1_Silent_p.N150N|RSPO2_ENST00000517781.1_Silent_p.N153N|RSPO2_ENST00000378439.2_Silent_p.N153N	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	217					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tctttttcttgttcctcttct	0.428000													15	45					0	0	0.002450	0	0
RNF123	63891	broad.mit.edu	37	3	49753850	49753850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:49753850C>T	ENST00000327697.6	+	35	3584	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	RNF123_ENST00000433785.1_Missense_Mutation_p.P259L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1147						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GACCACTATCCCATTCTGGTG	0.642000													27	207					0	0	0.001786	0	0
COL4A1	1282	broad.mit.edu	37	13	110819513	110819513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:110819513C>T	ENST00000375820.4	-	44	4062	c.3941G>A	c.(3940-3942)gGa>gAa	p.G1314E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1314	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTGAAATCCTGGAACTCC	0.537000													19	247					0	0	0.001523	0	0
SASH1	23328	broad.mit.edu	37	6	148854931	148854931	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:148854931A>G	ENST00000367467.3	+	15	2234	c.1759A>G	c.(1759-1761)Agc>Ggc	p.S587G		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	587	SH3.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGATATAATCAGCAAGCCACC	0.478000													34	123					0	0	0.000954	0	0
GCK	2645	broad.mit.edu	37	7	44192912	44192912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:44192912G>A	ENST00000403799.3	-	2	665	c.196C>T	c.(196-198)Cca>Tca	p.P66S	GCK_ENST00000395796.3_Missense_Mutation_p.P65S|GCK_ENST00000345378.2_Missense_Mutation_p.P67S|GCK_ENST00000437084.1_Missense_Mutation_p.P66S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	66					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAGCCTTCTGGGGTGGAGCGC	0.617000													33	280					0	0	0.000954	0	0
DDR1	780	broad.mit.edu	37	6	30857097	30857097	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:30857097C>A	ENST00000324771.8	+	6	855	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	103	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGTGGGCACCCAGGGACGGCA	0.672000													6	63					0.00116845	0.00568173	0.001168	1	0
ZCWPW1	55063	broad.mit.edu	37	7	100017406	100017406	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:100017406C>T	ENST00000398027.2	-	4	376	c.129G>A	c.(127-129)ggG>ggA	p.G43G	ZCWPW1_ENST00000360951.4_Silent_p.G43G|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	43							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGAACTGATCCCCGGGGTCT	0.493000													7	89					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100677796	100677796	+	Silent	SNP	A	A	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:100677796A>T	ENST00000306151.4	+	3	3163	c.3099A>T	c.(3097-3099)ccA>ccT	p.P1033P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1033	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCATGCCAACCTCAACTC	0.502000													22	322					0	0	0.000878	0	0
DSPP	1834	broad.mit.edu	37	4	88534086	88534086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:88534086G>A	ENST00000399271.1	+	4	868	c.748G>A	c.(748-750)Gga>Aga	p.G250R	DSPP_ENST00000282478.7_Missense_Mutation_p.G250R|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	250					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TAGTGGGAATGGAGCAGATGA	0.498000													12	66					0	0	0.000309	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374566	8374566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:8374566G>A	ENST00000538603.1	-	7	1805	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S416F	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	416							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTTCTCAGGAGAGTGAAATGA	0.612000													4	43					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9000475	9000475	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:9000475C>T	ENST00000397910.4	-	54	40712	c.40509G>A	c.(40507-40509)aaG>aaA	p.K13503K	MUC16_ENST00000380951.5_Silent_p.K144K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13505	SEA 10.				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						TGGTGTTAAACTTTCTAGAGC	0.507000													15	63					0	0	0.000566	0	0
GPR112	139378	broad.mit.edu	37	X	135430025	135430025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:135430025C>T	ENST00000394143.1	+	6	4451	c.4160C>T	c.(4159-4161)cCa>cTa	p.P1387L	GPR112_ENST00000370652.1_Missense_Mutation_p.P1387L|GPR112_ENST00000287534.4_Missense_Mutation_p.P1324L|GPR112_ENST00000412101.1_Missense_Mutation_p.P1182L|GPR112_ENST00000394141.1_Missense_Mutation_p.P1182L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1387					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTGCCCTTCCAGCATATACT	0.453000													49	79					0	0	0.000781	0	0
KIAA0195	9772	broad.mit.edu	37	17	73484131	73484131	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:73484131C>T	ENST00000314256.7	+	6	922	c.528C>T	c.(526-528)aaC>aaT	p.N176N	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.N186N	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	176					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGTCAACCTGCCAGTCA	0.567000													9	45					0	0	0.000673	0	0
MTOR	2475	broad.mit.edu	37	1	11316216	11316216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:11316216G>A	ENST00000361445.4	-	5	614	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	180					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AAGAAGGTAGGGACGCTGATG	0.527000													6	35					0	0	0.001168	0	0
HADHB	3032	broad.mit.edu	37	2	26507820	26507820	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:26507820A>G	ENST00000317799.5	+	14	1323	c.1219A>G	c.(1219-1221)Acc>Gcc	p.T407A	HADHB_ENST00000537713.1_Missense_Mutation_p.T392A|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.T385A|HADHB_ENST00000405867.3_Missense_Mutation_p.T284A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	407					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTAGAAAAACCAAGGTGAG	0.338000													23	230					0	0	0.002780	0	0
NRG1	3084	broad.mit.edu	37	8	32614018	32614018	+	Missense_Mutation	SNP	C	C	A	rs75779200		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:32614018C>A	ENST00000338921.4	+	10	1442	c.925C>A	c.(925-927)Cca>Aca	p.P309T	NRG1_ENST00000405005.2_Missense_Mutation_p.P301T|NRG1_ENST00000519301.1_Missense_Mutation_p.P251T|NRG1_ENST00000287840.5_Missense_Mutation_p.P301T|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000523079.1_Missense_Mutation_p.P298T|NRG1_ENST00000539990.1_Missense_Mutation_p.P144T|NRG1_ENST00000521670.1_Missense_Mutation_p.P301T|NRG1_ENST00000287845.5_Missense_Mutation_p.P272T|NRG1_ENST00000356819.4_Missense_Mutation_p.P306T|NRG1_ENST00000287842.3_Missense_Mutation_p.P298T			Q02297	NRG1_HUMAN	neuregulin 1	301					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCATCCTAACCCACCCCCCGA	0.498000													10	97					0.000978159	0.00476516	0.000978	1	0
SCN5A	6331	broad.mit.edu	37	3	38629053	38629053	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38629053C>T	ENST00000413689.1	-	15	2467	c.2274G>A	c.(2272-2274)ggG>ggA	p.G758G	SCN5A_ENST00000423572.2_Silent_p.G758G|SCN5A_ENST00000425664.1_Silent_p.G758G|SCN5A_ENST00000333535.4_Silent_p.G758G|SCN5A_ENST00000451551.2_Silent_p.G758G|SCN5A_ENST00000414099.2_Silent_p.G758G|SCN5A_ENST00000450102.2_Silent_p.G758G|SCN5A_ENST00000449557.2_Silent_p.G758G|SCN5A_ENST00000455624.2_Silent_p.G758G|SCN5A_ENST00000443581.1_Silent_p.G758G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	758					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGTGAAAATCCCTGTGAAGA	0.537000													11	38					0	0	0.002450	0	0
PAG1	55824	broad.mit.edu	37	8	81897606	81897606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:81897606G>A	ENST00000220597.4	-	7	991	c.281C>T	c.(280-282)tCa>tTa	p.S94L		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	94					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACTGTCCTCTGAAAGAACTAA	0.428000													6	27					0	0	0.001984	0	0
TFDP1	7027	broad.mit.edu	37	13	114287473	114287473	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:114287473T>C	ENST00000375370.5	+	6	559	c.347T>C	c.(346-348)cTa>cCa	p.L116P	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Missense_Mutation_p.L21P|TFDP1_ENST00000544902.1_Missense_Mutation_p.L21P	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	116					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	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;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGCAAGGGCCTACGGCATTTC	0.527000										TSP Lung(29;0.18)			13	45					0	0	0.002450	0	0
SWT1	54823	broad.mit.edu	37	1	185143999	185143999	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:185143999C>T	ENST00000367500.4	+	5	885	c.720C>T	c.(718-720)tcC>tcT	p.S240S	SWT1_ENST00000367501.3_Silent_p.S240S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	240										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTATAAAATCCCGTGACACCC	0.368000													26	145					0	0	0.001061	0	0
ZNF683	257101	broad.mit.edu	37	1	26694131	26694131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:26694131G>A	ENST00000436292.1	-	3	392	c.272C>T	c.(271-273)cCc>cTc	p.P91L	ZNF683_ENST00000403843.1_Missense_Mutation_p.P91L|ZNF683_ENST00000374204.1_Missense_Mutation_p.P91L|ZNF683_ENST00000349618.3_Missense_Mutation_p.P91L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGTGCCCAGGGGTGCCGGCTG	0.692000													6	36					0	0	0.001984	0	0
KAT8	84148	broad.mit.edu	37	16	31141410	31141410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:31141410C>T	ENST00000543774.2	+	8	1179	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	KAT8_ENST00000448516.2_Missense_Mutation_p.P282S|KAT8_ENST00000219797.4_Missense_Mutation_p.P282S			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	282					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										TGACGTGGAGCCGTTCGTCTT	0.562000													49	219					0	0	0.000781	0	0
ABCA12	26154	broad.mit.edu	37	2	215839571	215839571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:215839571G>A	ENST00000272895.7	-	35	5618	c.5399C>T	c.(5398-5400)aCg>aTg	p.T1800M	ABCA12_ENST00000389661.4_Missense_Mutation_p.T1482M	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1800					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.T1800M(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGTGCTTCCGTGCTCGGGTG	0.378000													16	115					0	0	0.000423	0	0
CACNA1S	779	broad.mit.edu	37	1	201046104	201046104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:201046104C>T	ENST00000362061.3	-	12	1997	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E591K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	591					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGCCGTACTTCTGTGTCTTCA	0.567000													18	102					0	0	0.001523	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171462	39171462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:39171462G>A	ENST00000297668.6	-	8	1310	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.R413*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.R413*|CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.R413*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.R325*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	413	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAACCACGTCGAAGTTCGCCG	0.498000													13	73					0	0	0.001368	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675518	3675518	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:3675518C>T	ENST00000344754.4	-	11	2735	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V	SIGLEC1_ENST00000202578.4_Silent_p.V912V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	912	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTCAGGACCACAGCCTGGC	0.632000													5	32					0	0	0.001168	0	0
CRB2	286204	broad.mit.edu	37	9	126132513	126132513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:126132513C>T	ENST00000373631.3	+	7	1182	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	CRB2_ENST00000359999.3_Missense_Mutation_p.S394F|CRB2_ENST00000373629.2_Missense_Mutation_p.S62F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	394	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCGACTGTTCTGTGCAGCTC	0.637000													5	25					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237796904	237796904	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:237796904C>T	ENST00000366574.2	+	43	6899	c.6582C>T	c.(6580-6582)gcC>gcT	p.A2194A	RYR2_ENST00000360064.6_Silent_p.A2192A|RYR2_ENST00000542537.1_Silent_p.A2178A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2194	4 X approximate repeats.				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)			AGATGGTGGCCAACTGTTGCC	0.393000													38	257					0	0	0.000781	0	0
GRIP2	80852	broad.mit.edu	37	3	14561972	14561972	+	RNA	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:14561972G>A	ENST00000273083.3	-	0	850							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGTGGTGAGCGAGATCCCCAG	0.567000													9	28					0	0	0.000673	0	0
RYR2	6262	broad.mit.edu	37	1	237886500	237886500	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:237886500G>T	ENST00000366574.2	+	74	10944	c.10627G>T	c.(10627-10629)Gat>Tat	p.D3543Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D3541Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D3527Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3543					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)			TGATACCTCAGATCCAGAGAA	0.393000													16	189					4.7546e-09	2.34202e-08	0.000423	1	0
MICAL2	9645	broad.mit.edu	37	11	12280079	12280079	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:12280079G>A	ENST00000256194.4	+	25	3495	c.3207G>A	c.(3205-3207)cgG>cgA	p.R1069R	MICAL2_ENST00000527546.1_Silent_p.R879R|MICAL2_ENST00000379612.3_Silent_p.R843R|MICAL2_ENST00000342902.5_Silent_p.R1048R|MICAL2_ENST00000537344.1_Silent_p.R879R	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1069						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAAGAGACGGGCAGAGTTGA	0.423000													13	72					0	0	0.000309	0	0
POF1B	79983	broad.mit.edu	37	X	84561251	84561251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:84561251C>T	ENST00000262753.4	-	12	1398	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	POF1B_ENST00000373145.3_Missense_Mutation_p.R418K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	418							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCTTTTAGTCTGTATTCCAT	0.338000													19	43					0	0	0.000743	0	0
IQGAP2	10788	broad.mit.edu	37	5	75871584	75871584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:75871584C>T	ENST00000274364.6	+	5	745	c.448C>T	c.(448-450)Cac>Tac	p.H150Y	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	150	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATATTGCATTCACGCACTGAG	0.289000													9	63					0	0	0.000978	0	0
ABCD2	225	broad.mit.edu	37	12	40012941	40012941	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:40012941G>A	ENST00000308666.3	-	1	612	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	159	ABC transmembrane type-1.|Interaction with PEX19.				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						CACTGTTGACGAAGGTAGCAG	0.423000													10	66					0	0	0.000443	0	0
GRM7	2917	broad.mit.edu	37	3	7721864	7721864	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:7721864G>A	ENST00000486284.1	+	9	2854	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K	GRM7_ENST00000402647.2_Silent_p.K860K|GRM7_ENST00000403881.1_Silent_p.K860K|GRM7_ENST00000389336.4_Silent_p.K860K|GRM7_ENST00000357716.4_Silent_p.K860K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	860					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)	AGAAACGGAAGCGAAGCTTCA	0.522000													15	64					0	0	0.000423	0	0
OR10R2	343406	broad.mit.edu	37	1	158450492	158450492	+	Silent	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:158450492T>G	ENST00000368152.1	+	1	825	c.825T>G	c.(823-825)gcT>gcG	p.A275A	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ATGGCTGTGCTTCCTTCATCT	0.493000													6	77					0	0	0.001168	0	0
LRP2	4036	broad.mit.edu	37	2	170062962	170062962	+	Missense_Mutation	SNP	G	G	A	rs34893088		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:170062962G>A	ENST00000263816.3	-	39	7553	c.7268C>T	c.(7267-7269)tCt>tTt	p.S2423F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2423					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAGTCTAGAGACATGACAGT	0.418000													22	64					0	0	0.002299	0	0
ZBBX	79740	broad.mit.edu	37	3	166960340	166960340	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:166960340G>A	ENST00000392766.2	-	20	2569	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	ZBBX_ENST00000392767.2_Silent_p.F743F|ZBBX_ENST00000455345.2_Silent_p.F782F|ZBBX_ENST00000307529.5_Silent_p.F782F|ZBBX_ENST00000392764.1_Silent_p.F714F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	743						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGGTCTTAAGGAAATCTGTGG	0.368000													5	71					0	0	0.000602	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447069	17447069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:17447069C>T	ENST00000541323.1	+	3	593	c.148C>T	c.(148-150)Cct>Tct	p.P50S	PDGFRL_ENST00000251630.6_Missense_Mutation_p.P50S|PDGFRL_ENST00000398074.3_Missense_Mutation_p.P50S	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	50						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GCCCAAAATTCCTAAAATGAA	0.468000													24	138					0	0	0.002780	0	0
OTUB1	55611	broad.mit.edu	37	11	63764603	63764603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:63764603G>A	ENST00000541478.1	+	3	662	c.202G>A	c.(202-204)Gac>Aac	p.D68N	OTUB1_ENST00000543004.1_Missense_Mutation_p.D178N|OTUB1_ENST00000422031.2_Missense_Mutation_p.D206N|OTUB1_ENST00000428192.2_Missense_Mutation_p.D169N|OTUB1_ENST00000543988.1_Missense_Mutation_p.D139N|OTUB1_ENST00000535715.1_Missense_Mutation_p.D169N|OTUB1_ENST00000538426.1_Missense_Mutation_p.D169N			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	169					protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GAGCACCTCCGACTACCTTGT	0.597000													21	73					0	0	0.001882	0	0
DKK2	27123	broad.mit.edu	37	4	107845771	107845771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:107845771G>A	ENST00000285311.3	-	3	1165	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	DKK2_ENST00000510463.1_Missense_Mutation_p.H108Y|DKK2_ENST00000513208.1_Missense_Mutation_p.H54Y	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	154					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTTGAGTAATGACCGTGGTTT	0.453000													12	93					0	0	0.000423	0	0
C8orf34	116328	broad.mit.edu	37	8	69434034	69434034	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:69434034G>A	ENST00000337103.4	+	5	2025	c.432_splice	c.e5-1	p.E145_splice	C8orf34_ENST00000539993.1_Splice_Site_p.E170_splice|C8orf34_ENST00000518698.1_Splice_Site_p.E256_splice|C8orf34_ENST00000348340.2_Splice_Site_p.E170_splice|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	170					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTCTTCAGGAAACAGTGAC	0.388000													6	51					0	0	0.000157	0	0
ADAM2	2515	broad.mit.edu	37	8	39627032	39627032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:39627032G>A	ENST00000265708.4	-	12	1194	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	ADAM2_ENST00000521880.1_Missense_Mutation_p.S364L|ADAM2_ENST00000347580.4_Missense_Mutation_p.S345L|ADAM2_ENST00000379853.2_Missense_Mutation_p.S238L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	364	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S364L(1)		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)		CTTCTGCTTTGAAATAAAATG	0.408000													9	34					0	0	0.000443	0	0
RHBDF2	79651	broad.mit.edu	37	17	74469098	74469098	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:74469098G>A	ENST00000591885.1	-	17	2449	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	RHBDF2_ENST00000313080.4_Silent_p.F662F|RHBDF2_ENST00000389760.4_Silent_p.F633F			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	662					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CAGCATGTAGGAAGAGAGACA	0.632000													7	61					0	0	0.000443	0	0
KIF21B	23046	broad.mit.edu	37	1	200978520	200978520	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:200978520C>T	ENST00000332129.2	-	2	454	c.138G>A	c.(136-138)aaG>aaA	p.K46K	KIF21B_ENST00000422435.2_Silent_p.K46K|KIF21B_ENST00000360529.5_Silent_p.K46K|KIF21B_ENST00000461742.2_Silent_p.K46K	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	46	Kinesin-motor.				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						AGGTGAAGGCCTTGTCCTTCC	0.567000													10	56					0	0	0.000443	0	0
RGPD4	285190	broad.mit.edu	37	2	108488418	108488418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:108488418G>A	ENST00000408999.3	+	20	4035	c.3958G>A	c.(3958-3960)Gaa>Aaa	p.E1320K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1320K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1320					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGCACTGATGAAGAATCTGA	0.408000													47	171					0	0	0.000781	0	0
KIFC2	90990	broad.mit.edu	37	8	145695006	145695006	+	Silent	SNP	C	C	T	rs141511686		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:145695006C>T	ENST00000301332.2	+	12	1733	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	KIFC2_ENST00000301331.5_Silent_p.F200F	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	452	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACTGGGTCTTCCCTCCAGACG	0.622000													10	58					0	0	0.001855	0	0
ZNF792	126375	broad.mit.edu	37	19	35449031	35449031	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:35449031G>A	ENST00000404801.1	-	4	2114	c.1728C>T	c.(1726-1728)acC>acT	p.T576T	ZNF792_ENST00000605484.1_Silent_p.T509T	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCGAATGAGGGTAGGCCTTT	0.502000													6	27					0	0	0.001168	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688708	26688708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26688708G>A	ENST00000529632.2	+	2	627	c.431G>A	c.(430-432)aGg>aAg	p.R144K	SEZ6L_ENST00000343706.4_Missense_Mutation_p.R144K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R144K|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R144K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R144K|SEZ6L_ENST00000402979.1_5'UTR	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	144						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						ACTGTCCAAAGGGCAGGGTCC	0.667000													5	37					0	0	0.001984	0	0
DAB1	1600	broad.mit.edu	37	1	57535063	57535063	+	Silent	SNP	A	A	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:57535063A>T	ENST00000371236.2	-	8	896	c.633T>A	c.(631-633)cgT>cgA	p.R211R	DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371234.4_Silent_p.R211R|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Silent_p.R211R			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	211					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTTCGGGATCACGGATTGGCT	0.403000													25	107					0	0	0.001061	0	0
CDH8	1006	broad.mit.edu	37	16	61859019	61859019	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:61859019G>A	ENST00000577390.1	-	5	1686	c.732C>T	c.(730-732)atC>atT	p.I244I	CDH8_ENST00000299345.6_Silent_p.I244I|CDH8_ENST00000584337.1_Silent_p.I244I|CDH8_ENST00000577730.1_Silent_p.I244I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	244	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTTGGCTTGGATAACAACCA	0.458000													12	93					0	0	0.001855	0	0
FZD5	7855	broad.mit.edu	37	2	208632349	208632349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:208632349G>A	ENST00000295417.3	-	2	1668	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	372					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGCCGTGATGGACTTGACGCT	0.667000													6	9					0	0	0.001984	0	0
MOV10	4343	broad.mit.edu	37	1	113232048	113232048	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:113232048T>C	ENST00000369644.1	+	5	1214	c.185T>C	c.(184-186)cTt>cCt	p.L62P	MOV10_ENST00000357443.2_Missense_Mutation_p.L118P|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.L118P|MOV10_ENST00000413052.2_Missense_Mutation_p.L118P			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	118					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCTGAGTATCTTCATGGGAAA	0.597000													10	64					0	0	0.002450	0	0
GRM3	2913	broad.mit.edu	37	7	86468913	86468913	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:86468913C>T	ENST00000361669.2	+	4	3182	c.2083C>T	c.(2083-2085)Ctg>Ttg	p.L695L	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.L287L|GRM3_ENST00000536043.1_Silent_p.L567L|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	695					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTGCCTGGGTCTGATCCTGGT	0.537000													7	53					0	0	0.001984	0	0
AKAP6	9472	broad.mit.edu	37	14	33004824	33004824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:33004824C>T	ENST00000280979.4	+	3	559	c.389C>T	c.(388-390)tCc>tTc	p.S130F	AKAP6_ENST00000557354.1_Missense_Mutation_p.S130F|AKAP6_ENST00000557272.1_Missense_Mutation_p.S130F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	130					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACAGAGTTCTCCCTAAAGCTG	0.478000													10	81					0	0	0.000443	0	0
SHROOM2	357	broad.mit.edu	37	X	9864373	9864373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:9864373C>T	ENST00000380913.3	+	4	2515	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	809					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CAAACCTGTTCCCCAGAGGCC	0.602000													15	25					0	0	0.000566	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186429	37186429	+	RNA	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:37186429C>T	ENST00000425901.2	+	0	271					NR_033753.2																						AATGAGAACCCCTCTCCAACC	0.542000													9	78					0	0	0.000443	0	0
TTC39C	125488	broad.mit.edu	37	18	21649138	21649138	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:21649138C>T	ENST00000317571.3	+	4	599	c.363C>T	c.(361-363)tcC>tcT	p.S121S	TTC39C_ENST00000304621.6_Silent_p.S60S|TTC39C_ENST00000578150.1_Intron	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	121							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCGAAAATCCGCCCCCTCTA	0.433000													8	78					0	0	0.000157	0	0
TBRG4	9238	broad.mit.edu	37	7	45145221	45145221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:45145221G>A	ENST00000258770.3	-	3	675	c.554C>T	c.(553-555)gCc>gTc	p.A185V	TBRG4_ENST00000494076.1_Missense_Mutation_p.A185V|TBRG4_ENST00000361278.3_Missense_Mutation_p.A185V|TBRG4_ENST00000395655.4_Missense_Mutation_p.A185V	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	185					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TGCCAGGAAGGCCAGGTGCTT	0.612000													31	95					0	0	0.001512	0	0
PMS2P4	5382	broad.mit.edu	37	7	66760755	66760755	+	RNA	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:66760755C>T	ENST00000414507.1	-	0	304																											TCCCAACCTTCGCCGATGCGT	0.517000													8	100					0	0	0.000443	0	0
ITGA8	8516	broad.mit.edu	37	10	15714643	15714643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:15714643G>A	ENST00000378076.3	-	7	1135	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	261					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCATCATAGGAAGCTGGAGC	0.423000													33	117					0	0	0.002836	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38798333C>T	ENST00000449082.2	-	9	1121	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	374					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAAAAAAGATCATATAGATTT	0.473000													10	108					0	0	0.000443	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256464	9256464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:9256464G>A	ENST00000383440.2	+	8	3387	c.3130G>A	c.(3130-3132)Gaa>Aaa	p.E1044K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E1044K|ANKRD12_ENST00000262126.3_Missense_Mutation_p.E1067K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1067						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CCGACCTAAAGAAAAGAGGTT	0.333000													17	160					0	0	0.000566	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788477	156788477	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:156788477G>A	ENST00000347377.6	+	26	3341	c.2908_splice	c.e26-1	p.G970_splice	CYFIP2_ENST00000541131.1_Splice_Site_p.G895_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.G970_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.G995_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.G774_splice|CYFIP2_ENST00000435847.2_Splice_Site_p.G669_splice|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Splice_Site_p.G944_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	995					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTCCCAGGGATCCTGGAGT	0.552000													19	119					0	0	0.002780	0	0
RWDD3	25950	broad.mit.edu	37	1	95699828	95699828	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:95699828G>A	ENST00000370202.4	+	1	118	c.42G>A	c.(40-42)gcG>gcA	p.A14A	RWDD3_ENST00000263893.6_Silent_p.A14A|RP11-57H12.6_ENST00000604534.1_Intron|RWDD3_ENST00000429514.2_5'UTR|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	14	RWD.					cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TCCTGGCCGCGATTTTCTGCA	0.726000													5	8					0	0	0.001168	0	0
EFCAB12	90288	broad.mit.edu	37	3	129130159	129130159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:129130159G>A	ENST00000505956.1	-	5	1039	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P293S	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TTCTTGAGCGGACCCTTCAGG	0.572000													11	64					0	0	0.001855	0	0
IQCF3	401067	broad.mit.edu	37	3	51864696	51864696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:51864696C>T	ENST00000456080.1	+	8	1509	c.344C>T	c.(343-345)gCt>gTt	p.A115V	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000440739.2_Missense_Mutation_p.A115V|IQCF3_ENST00000444293.1_Silent_p.C78C|IQCF3_ENST00000446775.1_Missense_Mutation_p.A115V|IQCF3_ENST00000437810.2_Missense_Mutation_p.A115V			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	115	IQ.							p.A115V(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCAATGCTCTCTGCTTG	0.547000													8	80					0	0	0.000443	0	0
FAM83A	84985	broad.mit.edu	37	8	124206364	124206364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:124206364G>A	ENST00000518448.1	+	4	2763	c.749G>A	c.(748-750)aGa>aAa	p.R250K	FAM83A_ENST00000276699.6_Missense_Mutation_p.R250K|FAM83A_ENST00000522648.1_Missense_Mutation_p.R194K|FAM83A_ENST00000536633.1_Missense_Mutation_p.R250K|FAM83A_ENST00000546351.1_Missense_Mutation_p.R194K|FAM83A_ENST00000318462.6_Missense_Mutation_p.R250K			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	250										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCGGACTGGAGATTTGTCCTG	0.512000													13	85					0	0	0.001855	0	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:240969565G>A	ENST00000402971.2	-	1	341	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCACCCGACGAAAGAGATGC	0.572000													5	37					0	0	0.000602	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290791	141290791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:141290791G>A	ENST00000247452.3	-	3	1330	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	328	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGGAAAGGAACTAGGAAC	0.458000										HNSCC(46;0.14)			30	50					0	0	0.001786	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	RNA	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:142168486G>A	ENST00000454561.2	-	0	437																											ATCTAGGAGGGAAGTTTCCTC	0.527000													13	88					0	0	0.001368	0	0
FAM24B	196792	broad.mit.edu	37	10	124610020	124610020	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:124610020G>A	ENST00000368898.3	-	3	302	c.12C>T	c.(10-12)atC>atT	p.I4I	CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.I4I|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000462859.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	4						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		TACCACCAGCGATGACAGGCA	0.493000													25	87					0	0	0.000586	0	0
SLC22A15	55356	broad.mit.edu	37	1	116574189	116574189	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:116574189C>T	ENST00000369503.4	+	6	1061	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	311					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACTTTGATCCTGATGTTCAT	0.478000													7	116					0	0	0.001984	0	0
KCNH5	27133	broad.mit.edu	37	14	63246485	63246485	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:63246485G>A	ENST00000322893.7	-	10	2248	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	KCNH5_ENST00000394968.1_Silent_p.F602F|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	660					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATTCCTTGAGAAGGAGTTTG	0.443000													11	101					0	0	0.001368	0	0
OR5D13	390142	broad.mit.edu	37	11	55541585	55541585	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:55541585C>T	ENST00000361760.1	+	1	672	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTTATTTTCACTACCATTA	0.438000													19	70					0	0	0.000958	0	0
C11orf45	219833	broad.mit.edu	37	11	128774431	128774431	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:128774431G>A	ENST00000310799.3	-	2	224	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	KCNJ5_ENST00000338350.4_Intron|KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.L11L	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	11						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		Gtgctactcaggtgtgcactg	0.587000													6	56					0	0	0.001168	0	0
FGFR1	2260	broad.mit.edu	37	8	38273548	38273548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:38273548G>A	ENST00000341462.5	-	13	2635	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	FGFR1_ENST00000397113.2_Missense_Mutation_p.S563F|FGFR1_ENST00000397091.5_Missense_Mutation_p.S563F|FGFR1_ENST00000425967.3_Missense_Mutation_p.S596F|FGFR1_ENST00000356207.5_Missense_Mutation_p.S476F|FGFR1_ENST00000397103.1_Missense_Mutation_p.S476F|FGFR1_ENST00000532791.1_Missense_Mutation_p.S563F|FGFR1_ENST00000335922.5_Missense_Mutation_p.S555F|FGFR1_ENST00000397108.4_Missense_Mutation_p.S563F|FGFR1_ENST00000326324.6_Missense_Mutation_p.S474F|FGFR1_ENST00000447712.2_Missense_Mutation_p.S565F			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	565	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTTGCCCTTGGAGGCATACTC	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						5	28					0	0	0.000157	0	0
TTN	7273	broad.mit.edu	37	2	179597057	179597057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179597057C>T	ENST00000589042.1	-	57	16863	c.16639G>A	c.(16639-16641)Gaa>Aaa	p.E5547K	TTN_ENST00000342992.6_Missense_Mutation_p.E4303K|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5230K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5230	Ig-like 36.						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)			TCTAACTTTTCAACAAATGTG	0.393000													28	136					0	0	0.000692	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794566	18794566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:18794566C>T	ENST00000377428.2	+	1	197	c.107C>T	c.(106-108)cCt>cTt	p.P36L	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		ATGCCACATCCTCTAGAGCTG	0.502000													9	50					0	0	0.000673	0	0
SGMS1	259230	broad.mit.edu	37	10	52103485	52103485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:52103485C>T	ENST00000361781.2	-	7	1349	c.390G>A	c.(388-390)atG>atA	p.M130I	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.M130I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	136					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGCCCCACTCCATGGGGTACT	0.493000													22	81					0	0	0.000472	0	0
DDX17	10521	broad.mit.edu	37	22	38890739	38890739	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:38890739G>A	ENST00000396821.3	-	8	1209	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	DDX17_ENST00000381633.3_Silent_p.F291F|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	291	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AATCACGAAGGAAATCCTCTG	0.463000													30	197					0	0	0.001786	0	0
NAALAD2	10003	broad.mit.edu	37	11	89907060	89907060	+	Silent	SNP	A	A	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:89907060A>C	ENST00000534061.1	+	14	1709	c.1479A>C	c.(1477-1479)tcA>tcC	p.S493S	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.S460S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	493	NAALADase.				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)				AAGACCCTTCACCTGAAAATA	0.398000													25	154					0	0	0.001061	0	0
CCDC127	133957	broad.mit.edu	37	5	205919	205919	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:205919G>A	ENST00000296824.3	-	3	408	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	92										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			GTTCCTTTTCGAGTTCCAAGG	0.502000													36	66					0	0	0.001485	0	0
SPRR3	6707	broad.mit.edu	37	1	152975541	152975541	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152975541G>A	ENST00000331860.3	+	3	195	c.45G>A	c.(43-45)caG>caA	p.Q15Q	SPRR3_ENST00000295367.4_Silent_p.Q15Q|SPRR3_ENST00000542696.1_Silent_p.Q15Q	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	15					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCACCTCAGCTTCAACAGC	0.488000													10	69					0	0	0.000978	0	0
CAST	831	broad.mit.edu	37	5	96065383	96065383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:96065383C>T	ENST00000395813.1	+	8	689	c.503C>T	c.(502-504)tCc>tTc	p.S168F	CAST_ENST00000504465.1_Missense_Mutation_p.S63F|CAST_ENST00000395812.2_Missense_Mutation_p.S127F|CAST_ENST00000359176.4_Missense_Mutation_p.S149F|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.S85F|CAST_ENST00000338252.3_Missense_Mutation_p.S85F|CAST_ENST00000325674.7_Missense_Mutation_p.S146F|CAST_ENST00000309190.5_Missense_Mutation_p.S63F|CAST_ENST00000510756.1_Missense_Mutation_p.S146F|CAST_ENST00000508830.1_Missense_Mutation_p.S168F|CAST_ENST00000511782.1_Missense_Mutation_p.S71F|CAST_ENST00000511049.1_Missense_Mutation_p.S71F|CAST_ENST00000508608.1_Missense_Mutation_p.S131F|CAST_ENST00000509903.1_Missense_Mutation_p.S63F			P20810	ICAL_HUMAN	calpastatin	85							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAAGCAGTTTCCAGATCAGCT	0.413000													10	67					0	0	0.001855	0	0
ZNF570	148268	broad.mit.edu	37	19	37975746	37975746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:37975746C>T	ENST00000330173.1	+	5	1751	c.1222C>T	c.(1222-1224)Cat>Tat	p.H408Y	ZNF570_ENST00000388801.3_Missense_Mutation_p.H205Y|ZNF570_ENST00000586475.1_Missense_Mutation_p.H464Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATACTGGAGA	0.423000													15	72					0	0	0.000309	0	0
RAB34	83871	broad.mit.edu	37	17	27042487	27042487	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:27042487G>A	ENST00000395245.3	-	6	1044	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	RAB34_ENST00000453384.3_Silent_p.L198L|RAB34_ENST00000415040.2_Silent_p.L118L|RAB34_ENST00000301043.6_Silent_p.L140L|RAB34_ENST00000395242.2_Silent_p.L141L|RAB34_ENST00000395243.3_Silent_p.L140L|RAB34_ENST00000450529.1_Silent_p.L140L|RAB34_ENST00000436730.3_Silent_p.L140L|RAB34_ENST00000447716.1_Silent_p.L197L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	140					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GTATGTTCCAGAGATGCCACA	0.493000													8	66					0	0	0.000274	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716343	153716343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:153716343G>A	ENST00000263512.4	-	2	1435	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	SLC10A3_ENST00000369649.4_Missense_Mutation_p.H284Y|SLC10A3_ENST00000393587.4_Missense_Mutation_p.H313Y|SLC10A3_ENST00000393586.1_Missense_Mutation_p.H368Y	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	313					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCGTCTCATGGATGCTGAGC	0.597000													18	28					0	0	0.000958	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175582	143175582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:143175582C>T	ENST00000408916.1	+	1	617	c.617C>T	c.(616-618)tCt>tTt	p.S206F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTAATTAATTCTCTGAGGAGG	0.463000													11	41					0	0	0.000673	0	0
ADAM2	2515	broad.mit.edu	37	8	39626988	39626988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:39626988G>A	ENST00000265708.4	-	12	1238	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	ADAM2_ENST00000521880.1_Missense_Mutation_p.P379S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P360S|ADAM2_ENST00000379853.2_Missense_Mutation_p.P253S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	379					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)		TTGAAAAAAGGATCTAAGCGA	0.443000													17	79					0	0	0.000566	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811101	106811101	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:106811101C>T	ENST00000407775.2	+	7	1139	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ZFPM2_ENST00000378472.4_Silent_p.L28L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.L165L|ZFPM2_ENST00000520492.1_Silent_p.L165L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	297					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATTTCCAGCCTGTGCCCCTT	0.493000													20	131					0	0	0.002299	0	0
MGAT5	4249	broad.mit.edu	37	2	135076307	135076307	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:135076307T>G	ENST00000409645.1	+	5	822	c.570T>G	c.(568-570)agT>agG	p.S190R	MGAT5_ENST00000281923.2_Missense_Mutation_p.S190R			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	190					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTTACCTCAGTGAGGTGAGTA	0.453000													7	103					0	0	0.000157	0	0
DNAJC2	27000	broad.mit.edu	37	7	102956276	102956276	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:102956276T>A	ENST00000379263.3	-	15	1821	c.1571A>T	c.(1570-1572)aAg>aTg	p.K524M	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.K471M	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	524					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTTTGAACTTATCAAATGC	0.308000													10	56					0	0	0.001855	0	0
GRIA1	2890	broad.mit.edu	37	5	153029900	153029900	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:153029900C>T	ENST00000285900.5	+	4	814	c.471C>T	c.(469-471)gtC>gtT	p.V157V	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.V167V|GRIA1_ENST00000340592.5_Silent_p.V157V|GRIA1_ENST00000448073.4_Silent_p.V167V|GRIA1_ENST00000521843.2_Silent_p.V88V|GRIA1_ENST00000518142.1_Silent_p.V77V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	157					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTATCCGTCCTGCAGAAAG	0.512000													11	49					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179428070	179428070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179428070C>T	ENST00000589042.1	-	326	83013	c.82789G>A	c.(82789-82791)Gat>Aat	p.D27597N	TTN_ENST00000342992.6_Missense_Mutation_p.D25029N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18657N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D25956N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18724N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D18532N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25956	Fibronectin type-III 101.						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)			GCGCCACCATCATAAATTGGC	0.498000													8	53					0	0	0.000157	0	0
ASXL3	80816	broad.mit.edu	37	18	31323893	31323893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:31323893C>T	ENST00000269197.5	+	12	4081	c.4081C>T	c.(4081-4083)Ccc>Tcc	p.P1361S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTCTTGATTCCCCCAATGGG	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	130					0	0	0.001523	0	0
APC	324	broad.mit.edu	37	5	112179658	112179658	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:112179658C>T	ENST00000457016.1	+	16	8747	c.8367C>T	c.(8365-8367)agC>agT	p.S2789S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.S2789S|APC_ENST00000508376.2_Silent_p.S2789S			P25054	APC_HUMAN	adenomatous polyposis coli	2789	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACAACCCAAGCCCTAGGAAAA	0.478000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	75					0	0	0.002450	0	0
WDFY3	23001	broad.mit.edu	37	4	85731442	85731442	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:85731442A>G	ENST00000322366.6	-	14	2350	c.1943T>C	c.(1942-1944)gTt>gCt	p.V648A	WDFY3_ENST00000295888.4_Missense_Mutation_p.V648A|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	648						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)		AAATCCTCCAACTTTCCTAAA	0.418000													11	39					0	0	0.001368	0	0
SYT9	143425	broad.mit.edu	37	11	7441752	7441752	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:7441752G>A	ENST00000318881.6	+	6	1590	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	451	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTCACAATGAGATCATCGGCG	0.438000													11	53					0	0	0.000309	0	0
IL17RC	84818	broad.mit.edu	37	3	9970149	9970149	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:9970149C>T	ENST00000295981.3	+	11	1469	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	IL17RC_ENST00000455057.1_Silent_p.S331S|IL17RC_ENST00000403601.3_Silent_p.S346S|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_Silent_p.S202S|IL17RC_ENST00000413608.1_Silent_p.S346S|IL17RC_ENST00000383812.4_Silent_p.S331S	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	417						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACCGCTTTCCTGGGAGAACG	0.672000													9	86					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179424718	179424718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179424718C>T	ENST00000589042.1	-	326	86365	c.86141G>A	c.(86140-86142)gGa>gAa	p.G28714E	TTN_ENST00000342992.6_Missense_Mutation_p.G26146E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19774E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27073E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G19841E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19649E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27073	Fibronectin type-III 109.						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)			TGTTGTTAGTCCGCTTATTGT	0.413000													5	57					0	0	0.000602	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													5	224					0	0	0.000602	0	0
ABCB11	8647	broad.mit.edu	37	2	169780299	169780299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:169780299C>T	ENST00000263817.6	-	28	3923	c.3799G>A	c.(3799-3801)Ggt>Agt	p.G1267S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1267	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAGGTCCGACCCTCTCTGGCT	0.527000													11	47					0	0	0.001855	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234911	26234911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:26234911C>T	ENST00000244534.5	-	1	305	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	84	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCTCTTGAGGCCAAGCTTGAT	0.547000													14	130					0	0	0.000423	0	0
SCARA5	286133	broad.mit.edu	37	8	27762290	27762290	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:27762290C>T	ENST00000524352.1	-	7	1540	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	SCARA5_ENST00000301906.4_Silent_p.K343K|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000518030.1_Silent_p.K343K|SCARA5_ENST00000354914.3_Intron|SCARA5_ENST00000380385.2_Intron			Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	323					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCAGAATGTCCTTACTGGCAT	0.542000													7	23					0	0	0.000443	0	0
OR2T2	401992	broad.mit.edu	37	1	248616305	248616305	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:248616305C>T	ENST00000342927.3	+	1	229	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			AGCTCTCCATCATGGATACCA	0.512000													12	194					0	0	0.000721	0	0
HHLA2	11148	broad.mit.edu	37	3	108072453	108072453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:108072453G>A	ENST00000357759.5	+	4	658	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	HHLA2_ENST00000467761.1_Missense_Mutation_p.E82K|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000489514.2_Missense_Mutation_p.E82K|HHLA2_ENST00000491820.1_Missense_Mutation_p.E82K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	82	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGACCATTTGGAAAGCCAAGA	0.413000													6	54					0	0	0.000157	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264378	85264378	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:85264378G>A	ENST00000266682.5	-	9	1915	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	SLC6A15_ENST00000309283.7_Silent_p.F166F|SLC6A15_ENST00000552192.1_Silent_p.F351F	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	458					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCACTGACCAGAAGGGAGATG	0.443000													20	96					0	0	0.002780	0	0
KIAA0430	9665	broad.mit.edu	37	16	15704908	15704908	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:15704908G>A	ENST00000396368.3	-	19	3881	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	KIAA0430_ENST00000344181.3_Silent_p.I827I|KIAA0430_ENST00000551742.1_Silent_p.I1225I|KIAA0430_ENST00000602337.1_Silent_p.I1222I|KIAA0430_ENST00000548025.1_Silent_p.I1222I|KIAA0430_ENST00000540441.2_Silent_p.I1060I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1224						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTCTGATACGATGTCAATCA	0.403000													19	67					0	0	0.001216	0	0
PCYT1B	9468	broad.mit.edu	37	X	24605402	24605402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:24605402G>A	ENST00000379145.1	-	5	511	c.467C>T	c.(466-468)tCc>tTc	p.S156F	PCYT1B_ENST00000379144.2_Missense_Mutation_p.S174F|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000356768.4_Missense_Mutation_p.S174F	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	174	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GCCAGCAGAGGAATACGGAAT	0.463000													9	17					0	0	0.000978	0	0
PCDH18	54510	broad.mit.edu	37	4	138451129	138451129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:138451129G>A	ENST00000344876.4	-	1	2500	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S705F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S485F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	705					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S705F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTCCTAAGGAAATAATTAT	0.423000													30	179					0	0	0.001271	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:100774643C>T	ENST00000323346.5	+	2	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S89F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000													10	148					0	0	0.000673	0	0
WDR54	84058	broad.mit.edu	37	2	74650042	74650042	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:74650042T>C	ENST00000348227.4	+	3	356	c.268T>C	c.(268-270)Tca>Cca	p.S90P	WDR54_ENST00000409791.1_Missense_Mutation_p.S38P|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	90										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGTACTCACCTCACATCGAGG	0.547000													6	53					0	0	0.001984	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255315	30255315	+	Silent	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:30255315A>G	ENST00000303775.5	-	2	238	c.213T>C	c.(211-213)gcT>gcC	p.A71A	N6AMT1_ENST00000351429.3_Silent_p.A71A	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	71					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACATGTACAAAGCCTGAGGGC	0.343000													8	49					0	0	0.000274	0	0
TTC26	79989	broad.mit.edu	37	7	138853127	138853127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:138853127G>A	ENST00000464848.1	+	11	1069	c.989G>A	c.(988-990)gGc>gAc	p.G330D	TTC26_ENST00000495038.1_Missense_Mutation_p.G199D|TTC26_ENST00000478836.2_Missense_Mutation_p.G223D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.G330D|TTC26_ENST00000343187.4_Missense_Mutation_p.G299D			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	330							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCAGCCCTTGGCCAGGAAATG	0.368000													6	44					0	0	0.000157	0	0
F3	2152	broad.mit.edu	37	1	95001606	95001606	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:95001606G>A	ENST00000334047.7	-	3	490	c.327C>T	c.(325-327)tcC>tcT	p.S109S	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.S109S	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	109					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTGCAGGGTAGGAGAAGACCC	0.522000													36	175					0	0	0.000585	0	0
COL4A6	1288	broad.mit.edu	37	X	107417830	107417830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:107417830C>T	ENST00000334504.7	-	31	3211	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	COL4A6_ENST00000538570.1_Missense_Mutation_p.R993Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.R994Q|COL4A6_ENST00000545689.1_Missense_Mutation_p.R993Q|COL4A6_ENST00000372216.4_Missense_Mutation_p.R994Q	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	994	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGTCCAGGTCGACCAGCCTC	0.547000									Alport syndrome with Diffuse Leiomyomatosis				9	22					0	0	0.001368	0	0
NPR3	4883	broad.mit.edu	37	5	32789519	32789519	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:32789519C>T	ENST00000326958.1	+	1	575	c.12C>T	c.(10-12)tcC>tcT	p.S4S	NPR3_ENST00000265074.8_3'UTR																							TGAGAAGGTCCCTGAAAACAT	0.388000													19	115					0	0	0.000472	0	0
GCSAM	257144	broad.mit.edu	37	3	111842515	111842515	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:111842515C>T	ENST00000308910.4	-	6	508	c.324G>A	c.(322-324)gaG>gaA	p.E108E	GCSAM_ENST00000484193.1_Silent_p.E110E|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		AGGGAACATTCTCATAGTACT	0.498000													13	59					0	0	0.001855	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586637	15586637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:15586637G>A	ENST00000292609.4	-	2	973	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.L282F			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	282					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TAGTCTCCAAGGATGACCCCA	0.622000													7	51					0	0	0.000274	0	0
POP1	10940	broad.mit.edu	37	8	99153020	99153020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:99153020C>T	ENST00000401707.2	+	11	1579	c.1498C>T	c.(1498-1500)Ccg>Tcg	p.P500S	POP1_ENST00000349693.3_Missense_Mutation_p.P500S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	500					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGCAGAAATTCCGGCAGGTAC	0.368000													10	71					0	0	0.000978	0	0
C3orf30	152405	broad.mit.edu	37	3	118865127	118865127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:118865127G>A	ENST00000295622.1	+	1	131	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	31										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TAAGGGCCAGGAAGAAGACGA	0.567000													6	26					0	0	0.001168	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796513	62796513	+	RNA	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:62796513T>A	ENST00000582986.1	-	0	1407					NR_024386.1																						AGAAAATATATAGGGCATCCA	0.542000													9	62					0	0	0.000673	0	0
MUC13	56667	broad.mit.edu	37	3	124627062	124627062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:124627062C>T	ENST00000311075.3	-	11	1506	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	490						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCTCTGGAGGCCGTTATCCTG	0.493000													5	59					0	0	0.001168	0	0
LCP2	3937	broad.mit.edu	37	5	169677818	169677818	+	Nonsense_Mutation	SNP	G	G	C	rs76018609		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:169677818G>C	ENST00000046794.5	-	20	2010	c.1395C>G	c.(1393-1395)taC>taG	p.Y465*	LCP2_ENST00000521416.1_Nonsense_Mutation_p.Y260*|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	465	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTTTATCTTTGTACAACACCA	0.383000													10	75					0	0	0.000673	0	0
TNNC1	7134	broad.mit.edu	37	3	52485442	52485442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:52485442C>T	ENST00000232975.3	-	5	473	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	140	EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GTTCTTGTCTCCGTCCTTCAT	0.577000													5	31					0	0	0.001168	0	0
FAM53C	51307	broad.mit.edu	37	5	137680711	137680711	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:137680711C>G	ENST00000239906.5	+	4	762	c.334C>G	c.(334-336)Cct>Gct	p.P112A	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.P112A	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	112										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCCCTGCCCCTCCATCCAA	0.657000													4	60					0	0	0.000602	0	0
KRT73	319101	broad.mit.edu	37	12	53002076	53002076	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:53002076C>T	ENST00000305748.3	-	9	1561	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	509	Tail.					keratin filament	structural molecule activity	p.G509V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGCTTCCCCACGGGGGC	0.582000													8	54					0	0	0.000157	0	0
RBM46	166863	broad.mit.edu	37	4	155749083	155749083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:155749083G>A	ENST00000281722.3	+	5	1701	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	489							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTCTCTTCTGGGACTCCCAGC	0.418000													40	257					0	0	0.001485	0	0
KCNA10	3744	broad.mit.edu	37	1	111061064	111061064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:111061064C>T	ENST00000369771.2	-	1	733	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	116						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATCCTTTTTTCCCGGTCTCCC	0.468000													28	72					0	0	0.001786	0	0
SETD2	29072	broad.mit.edu	37	3	47129691	47129691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:47129691G>A	ENST00000409792.3	-	10	5231	c.5189C>T	c.(5188-5190)tCt>tTt	p.S1730F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTTTTTATCAGAGAGACCCTC	0.383000			"""N, F, S, Mis"""		clear cell renal carcinoma								15	125					0	0	0.000309	0	0
EPHA7	2045	broad.mit.edu	37	6	94066482	94066482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:94066482C>T	ENST00000369303.4	-	5	1461	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	426	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTCTGGGATCGGCTTAAGTC	0.418000													17	66					0	0	0.000743	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999051	112999051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:112999051C>T	ENST00000271277.6	+	6	1162	c.937C>T	c.(937-939)Caa>Taa	p.Q313*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	313						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGTTTTGCCAAACAGAGAG	0.493000													18	145					0	0	0.000566	0	0
C2orf57	165100	broad.mit.edu	37	2	232458344	232458344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:232458344G>A	ENST00000313965.2	+	1	770	c.682G>A	c.(682-684)Gga>Aga	p.G228R		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	228										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGACAGCTTAGGAGACCTGCA	0.612000													29	120					0	0	0.001786	0	0
EP400	57634	broad.mit.edu	37	12	132551330	132551330	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:132551330C>T	ENST00000333577.4	+	50	8782	c.8673C>T	c.(8671-8673)ccC>ccT	p.P2891P	EP400_ENST00000332482.4_Silent_p.P2818P|EP400_ENST00000389562.2_Silent_p.P2854P|EP400_ENST00000389561.2_Silent_p.P2855P|EP400_ENST00000330386.6_Silent_p.P2774P			Q96L91	EP400_HUMAN	E1A binding protein p400	2891					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCGGGTTCCCACTTCTCAGC	0.572000													5	49					0	0	0.001168	0	0
COL4A1	1282	broad.mit.edu	37	13	110828850	110828850	+	Silent	SNP	A	A	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:110828850A>C	ENST00000375820.4	-	36	3100	c.2979T>G	c.(2977-2979)ggT>ggG	p.G993G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	993	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TACCTGGATCACCTTTAGGTC	0.512000													6	46					0	0	0.001984	0	0
PEG3	5178	broad.mit.edu	37	19	57326051	57326051	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:57326051C>T	ENST00000326441.9	-	10	4122	c.3759G>A	c.(3757-3759)ctG>ctA	p.L1253L	PEG3_ENST00000593695.1_Silent_p.L1127L|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.L1253L|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.L1129L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1253					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)		GGCTCTGCTCCAGTAAATCAT	0.478000													6	52					0	0	0.001984	0	0
BSN	8927	broad.mit.edu	37	3	49699811	49699811	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:49699811G>A	ENST00000296452.4	+	6	10647	c.10533G>A	c.(10531-10533)ttG>ttA	p.L3511L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3511					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)		TCAGTCCTTTGGGGAGGCCCC	0.672000													10	23					0	0	0.000443	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179315251	179315251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:179315251G>A	ENST00000356834.3	-	7	1143	c.1106C>T	c.(1105-1107)aCc>aTc	p.T369I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.T369I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	369						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTGCTTTTGGTGCTGATGGA	0.502000													9	88					0	0	0.001368	0	0
FAM118A	55007	broad.mit.edu	37	22	45719160	45719160	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:45719160C>G	ENST00000216214.3	+	4	986	c.152C>G	c.(151-153)tCg>tGg	p.S51W	FAM118A_ENST00000441876.2_Missense_Mutation_p.S51W|FAM118A_ENST00000405673.1_Missense_Mutation_p.S51W	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	51						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCCTTTGCTCGTGGAGAAGC	0.607000													10	52					0	0	0.000978	0	0
CMTM8	152189	broad.mit.edu	37	3	32398964	32398964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:32398964C>T	ENST00000307526.3	+	2	541	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	83	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TTACTGGGTCCTCACCGTCTT	0.517000													10	95					0	0	0.000443	0	0
CT47B1	643311	broad.mit.edu	37	X	120008798	120008798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:120008798C>T	ENST00000371311.3	-	1	981	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	243								p.K235_E243delKLTEEATEE(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCGGCCGGTtcctctgtggcc	0.687000													17	59					0	0	0.000958	0	0
PPIC	5480	broad.mit.edu	37	5	122365059	122365059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:122365059G>A	ENST00000306442.4	-	2	287	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	58	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TTTCCAAAGAGGCCAATCACA	0.403000													25	114					0	0	0.001061	0	0
PPP1R36	145376	broad.mit.edu	37	14	65054821	65054821	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:65054821G>A	ENST00000298705.1	+	11	986		c.e11-1		RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36																		CTCCCCGACAGGAGAATGATG	0.463000													7	82					0	0	0.001984	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:2582822C>T	ENST00000358864.1	+	11	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	430						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000													7	54					0	0	0.001984	0	0
NCOA2	10499	broad.mit.edu	37	8	71036964	71036964	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:71036964G>A	ENST00000452400.2	-	20	4234	c.4053C>T	c.(4051-4053)tcC>tcT	p.S1351S	NCOA2_ENST00000267974.4_Silent_p.S439S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1351					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATTTATGTCGGAGGGGGCCT	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	60					0	0	0.001855	0	0
KBTBD3	143879	broad.mit.edu	37	11	105923628	105923628	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:105923628C>T	ENST00000526793.1	-	3	1947	c.1788G>A	c.(1786-1788)gtG>gtA	p.V596V	KBTBD3_ENST00000534815.1_Silent_p.V517V|KBTBD3_ENST00000531837.1_Silent_p.V596V	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	592										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TAAACTGAATCACCTGGCAGT	0.378000													11	104					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179456616	179456616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179456616G>A	ENST00000589042.1	-	303	60154	c.59930C>T	c.(59929-59931)cCc>cTc	p.P19977L	TTN_ENST00000342992.6_Missense_Mutation_p.P17409L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11037L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18336L|TTN_ENST00000342175.6_Missense_Mutation_p.P11104L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10912L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18336	Fibronectin type-III 44.						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)			TGGCCCTGGGGGATCTTTTCA	0.423000													5	80					0	0	0.000602	0	0
ACTR3	10096	broad.mit.edu	37	2	114714970	114714970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:114714970G>A	ENST00000263238.2	+	12	1515	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	ACTR3_ENST00000535589.2_Missense_Mutation_p.D348N|ACTR3_ENST00000536059.1_Missense_Mutation_p.D337N	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	399					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CACCAAAAAGGATTATGAAGA	0.368000													5	90					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179440104	179440104	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179440104C>T	ENST00000589042.1	-	326	70979	c.70755G>A	c.(70753-70755)gtG>gtA	p.V23585V	TTN_ENST00000342992.6_Silent_p.V21017V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.V14645V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.V21944V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.V14712V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.V14520V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21944	Fibronectin type-III 71.						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)			CTAACCCTTTCACGGTTGTGA	0.498000													7	65					0	0	0.001984	0	0
NKG7	4818	broad.mit.edu	37	19	51875550	51875550	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:51875550C>G	ENST00000221978.5	-	2	348	c.169G>C	c.(169-171)Gtg>Ctg	p.V57L	NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	57						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)		GTCTGCGTCACGTGGATGTAG	0.597000													27	100					0	0	0.000878	0	0
DOCK9	23348	broad.mit.edu	37	13	99489772	99489772	+	Silent	SNP	A	A	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:99489772A>G	ENST00000376460.1	-	39	4301	c.4221T>C	c.(4219-4221)ctT>ctC	p.L1407L	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Silent_p.L1408L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1408					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAATAGAGAAAGCGTGTCCA	0.448000													8	37					0	0	0.000673	0	0
NSMAF	8439	broad.mit.edu	37	8	59512321	59512321	+	Missense_Mutation	SNP	G	G	A	rs140579437	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:59512321G>A	ENST00000038176.3	-	18	1653	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	NSMAF_ENST00000427130.2_Missense_Mutation_p.P512S	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	481	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GAAGCCCAAGGGGGAAGCTCC	0.418000													18	79					0	0	0.001523	0	0
TIAM2	26230	broad.mit.edu	37	6	155450802	155450802	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:155450802T>A	ENST00000461783.3	+	6	1718	c.445T>A	c.(445-447)Tcc>Acc	p.S149T	TIAM2_ENST00000456144.1_Missense_Mutation_p.S149T|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.S149T|TIAM2_ENST00000529824.2_Missense_Mutation_p.S149T|TIAM2_ENST00000360366.4_Missense_Mutation_p.S149T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	149					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGCATTGCCTCCACCCCACC	0.572000													9	26					0	0	0.000978	0	0
IFT122	55764	broad.mit.edu	37	3	129195284	129195284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:129195284G>A	ENST00000296266.3	+	11	1288	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	IFT122_ENST00000507564.1_Missense_Mutation_p.G307R|IFT122_ENST00000504021.1_Missense_Mutation_p.G209R|IFT122_ENST00000440957.2_Missense_Mutation_p.G106R|IFT122_ENST00000348417.2_Missense_Mutation_p.G315R|IFT122_ENST00000347300.2_Missense_Mutation_p.G256R|IFT122_ENST00000349441.2_Missense_Mutation_p.G204R|IFT122_ENST00000431818.2_Missense_Mutation_p.G165R	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	315					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGTGCGGCTTGGGACTGTTGG	0.512000													19	120					0	0	0.001882	0	0
LAMC2	3918	broad.mit.edu	37	1	183195866	183195866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:183195866C>T	ENST00000264144.4	+	9	1165	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	LAMC2_ENST00000493293.1_Missense_Mutation_p.S367L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	367	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACCCTGATTTCAGCCCGCCCT	0.502000													40	164					0	0	0.002852	0	0
DYSF	8291	broad.mit.edu	37	2	71909735	71909735	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:71909735G>A	ENST00000258104.3	+	54	6409	c.6132G>A	c.(6130-6132)cgG>cgA	p.R2044R	DYSF_ENST00000409744.1_Silent_p.R2052R|DYSF_ENST00000410041.1_Silent_p.R2062R|DYSF_ENST00000410020.3_Silent_p.R2083R|DYSF_ENST00000429174.2_Silent_p.R2065R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.R2061R|DYSF_ENST00000409366.1_Silent_p.R2066R|DYSF_ENST00000409651.1_Silent_p.R2076R|DYSF_ENST00000413539.2_Silent_p.R2075R|DYSF_ENST00000409582.3_Silent_p.R2082R|DYSF_ENST00000394120.2_Silent_p.R2045R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2044						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						GGCGTTTCCGGTGGGCcatca	0.582000													17	59					0	0	0.000958	0	0
CMYA5	202333	broad.mit.edu	37	5	79031243	79031243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:79031243C>T	ENST00000446378.2	+	2	6686	c.6655C>T	c.(6655-6657)Cct>Tct	p.P2219S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2219						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTGATAGATCCTGAAGGTAC	0.403000													39	186					0	0	0.002522	0	0
PCDH15	65217	broad.mit.edu	37	10	55600246	55600246	+	Missense_Mutation	SNP	G	G	A	rs111033363	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:55600246G>A	ENST00000373965.2	-	30	4232	c.3838C>T	c.(3838-3840)Cgc>Tgc	p.R1280C	PCDH15_ENST00000437009.1_Missense_Mutation_p.R1202C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1273C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1278C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1273C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1280C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1251C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1236C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R884C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1273					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAACATAGCGATCCAAGATC	0.408000										HNSCC(58;0.16)			6	46					0	0	0.001168	0	0
LRTM1	57408	broad.mit.edu	37	3	54952717	54952717	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:54952717C>G	ENST00000273286.5	-	3	969	c.807G>C	c.(805-807)ttG>ttC	p.L269F	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L193F	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	269						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)		GCTCGCACTCCAAGAGTTCTC	0.607000													8	56					0	0	0.000157	0	0
MUCL1	118430	broad.mit.edu	37	12	55252002	55252002	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:55252002C>T	ENST00000308796.6	+	4	295	c.249C>T	c.(247-249)ctC>ctT	p.L83L	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Silent_p.L78L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	83						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TTGGGGATCTCCCGAATGGTA	0.413000													21	142					0	0	0.000472	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948485	82948485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:82948485C>T	ENST00000274341.4	-	3	1109	c.259G>A	c.(259-261)Gat>Aat	p.D87N	HAPLN1_ENST00000514416.1_Missense_Mutation_p.D87N	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	87	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TTGAGGTAATCCGAAGTTAGC	0.433000													15	95					0	0	0.000566	0	0
HTT	3064	broad.mit.edu	37	4	3213790	3213790	+	Silent	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:3213790C>T	ENST00000355072.5	+	48	6694	c.6549C>T	c.(6547-6549)ctC>ctT	p.L2183L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2183					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCAGCAGCTCCCTGCTGTCC	0.532000													5	65					0	0	0.000602	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585532	43585532	+	RNA	SNP	A	A	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:43585532A>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							TGTCCCTGGGATAAGAATAAC	0.512000													10	87					0	0	0.000978	0	0
ARL11	115761	broad.mit.edu	37	13	50204908	50204908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:50204908G>A	ENST00000282026.1	+	2	660	c.325G>A	c.(325-327)Gac>Aac	p.D109N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	109					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		AGTCCTGAACGACCCCAACAT	0.567000													17	101					0	0	0.000958	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831694	24831694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:24831694C>T	ENST00000376451.2	+	13	2916	c.2656C>T	c.(2656-2658)Caa>Taa	p.Q886*	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Q1203*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.Q1167*|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.Q886*|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1203					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATGGAATTCCAAAAGGTGAG	0.423000													12	53					0	0	0.001368	0	0
SLC6A14	11254	broad.mit.edu	37	X	115574866	115574866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:115574866G>A	ENST00000371900.4	+	5	652	c.564G>A	c.(562-564)atG>atA	p.M188I		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	188					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCATCCAAATGAATAAAAGCT	0.353000													19	20					0	0	0.000743	0	0
SPP1	6696	broad.mit.edu	37	4	88902665	88902665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:88902665G>A	ENST00000237623.7	+	5	361	c.213G>A	c.(211-213)atG>atA	p.M71I	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.M58I|SPP1_ENST00000395080.3_Missense_Mutation_p.M85I	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	85					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATGACCACATGGATGATATGG	0.413000													97	190					0	0	0.000781	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:137814319G>A	ENST00000409968.1	+	3	647	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	THSD7B_ENST00000543459.1_Missense_Mutation_p.E16K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E157K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E126K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000													12	135					0	0	0.000978	0	0
KIAA0408	9729	broad.mit.edu	37	6	127765361	127765361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:127765361G>A	ENST00000483725.3	-	6	2314	c.1978C>T	c.(1978-1980)Cgt>Tgt	p.R660C	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	660							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GAGGGGAGACGACGATTTGCT	0.502000													20	37					0	0	0.000472	0	0
TMEM192	201931	broad.mit.edu	37	4	166021901	166021901	+	Silent	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:166021901G>A	ENST00000306480.5	-	3	463	c.318C>T	c.(316-318)ctC>ctT	p.L106L	TMEM192_ENST00000506087.1_Silent_p.L102L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	106						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GGAGTAAATGGAGAATCCACA	0.403000													15	80					0	0	0.000423	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468337	25468337	+	RNA	SNP	G	G	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:25468337G>A	ENST00000453082.2	+	0	885					NR_003343.1																						ACTGAGCTGTGGTGAGCACAT	0.567000													10	68					0	0	0.000443	0	0
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	5	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								10	146	---	---	---	---					
MTL5	9633	broad.mit.edu	37	11	68480836	68480836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:68480836delT	ENST00000255087.5	-	8	1243	c.1060delA	c.(1060-1062)ttfs	p.I354fs		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	354					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473													7	392	---	---	---	---					
VEZT	55591	broad.mit.edu	37	12	95689830	95689830	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:95689830delT	ENST00000436874.1	+	11	1732	c.1627delT	c.(1627-1629)tafs	p.L543fs	VEZT_ENST00000261219.6_Frame_Shift_Del_p.L495fs|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	543						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTTCAGGAATTAGAAGCTTA	0.308													2	4	---	---	---	---					
TRPM1	4308	broad.mit.edu	37	15	31341630	31341631	+	Frame_Shift_Ins	INS	-	-	CTCCGTTT			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:31341630_31341631insCTCCGTTT	ENST00000542188.1	-	12	1883_1884	c.1570_1571insAAACGGAG	c.(1570-1572)gaafs	p.E524fs	TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.E507fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.E485fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	485					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGCATGTTCACTCCGTTTTCA	0.495													7	125	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29990310	29990310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:29990310delT	ENST00000308893.4	+	6	1411	c.368delT	c.(367-369)ctfs	p.L123fs	TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L123fs|TAOK2_ENST00000279394.3_Frame_Shift_Del_p.L123fs	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	123	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AAGAAACCCCTTCAGGAGGTA	0.572													32	129	---	---	---	---					
PHF5A	84844	broad.mit.edu	37	22	41863532	41863532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:41863532delG	ENST00000216252.3	-	3	234	c.163delC	c.(163-165)agfs	p.Q55fs	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	55					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						CAGCGCCCCTGGTAAGATCCA	0.498													8	80	---	---	---	---