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
TLN2	83660	broad.mit.edu	37	15	62978869	62978869	+	Silent	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:62978869G>T	ENST00000561311.1	+	11	1217	c.987G>T	c.(985-987)gtG>gtT	p.V329V	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V			Q9Y4G6	TLN2_HUMAN	talin 2	329	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.V329V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAGCTGGTGCCTCGCCTGC	0.537000													12	31					2.80697e-09	3.2868e-09	0.080935	1	0
DYRK1A	1859	broad.mit.edu	37	21	38884778	38884778	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:38884778G>C	ENST00000339659.3	+	11	3679	c.2209G>C	c.(2209-2211)Gaa>Caa	p.E737Q	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E746Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	746					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E746Q(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438000													7	178					0	0	0.029380	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293806	71293806	+	Silent	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:71293806A>T	ENST00000398530.1	-	1	115	c.78T>A	c.(76-78)tcT>tcA	p.S26S	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	26						keratin filament		p.S26S(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACAGCCAGAGCCACAGC	0.637000													8	32					0	0	0.105934	0	0
CROCCP2	0	broad.mit.edu	37	1	16959603	16959603	+	RNA	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16959603G>A	ENST00000412962.1	-	0	74																											CTGCAGTGACGCCTGCCTCAT	0.602000													5	44					0	0	0.014758	0	0
ARSB	411	broad.mit.edu	37	5	78260259	78260259	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:78260259T>G	ENST00000264914.4	-	3	1206	c.670A>C	c.(670-672)Act>Cct	p.T224P	ARSB_ENST00000396151.3_Missense_Mutation_p.T224P|ARSB_ENST00000565165.1_Missense_Mutation_p.T224P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	224					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGATGGTTAGTTATGAGGGCT	0.363000													3	191					0	0	0.115264	0	0
DDX27	55661	broad.mit.edu	37	20	47845307	47845307	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:47845307C>T	ENST00000371764.4	+	8	864	c.855C>T	c.(853-855)cgC>cgT	p.R285R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	285	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R285R(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAAACCCCGCCAGGCTCCAG	0.572000													109	226					0	0	0.139131	0	0
MICU1	10367	broad.mit.edu	37	10	74135571	74135571	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:74135571C>G	ENST00000398761.4	-	13	1378	c.1246G>C	c.(1246-1248)Gat>Cat	p.D416H	MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000361114.5_Missense_Mutation_p.D414H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	414	EF-hand 2.				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.D414H(1)|p.D416H(1)									AACACCACATCACACACGTGG	0.537000													6	22					0	0	0.038147	0	0
PSG8	0	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:43259290G>T	ENST00000404209.4	-	4	934	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG8_ENST00000306511.4_Missense_Mutation_p.L280I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.L158I|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448000													95	584					6.01484e-32	7.42372e-32	0.139131	1	0
OR5B12	390191	broad.mit.edu	37	11	58207266	58207266	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:58207266C>T	ENST00000302572.2	-	1	380	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120H(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.433000													48	112					0	0	0.139131	0	0
ZMYM4	9202	broad.mit.edu	37	1	35855556	35855556	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:35855556A>G	ENST00000314607.6	+	15	2524	c.2444A>G	c.(2443-2445)aAa>aGa	p.K815R	ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	815					multicellular organismal development		DNA binding|zinc ion binding	p.K815R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATGGCCAAATGTGATGCT	0.368000													24	87					0	0	0.083992	0	0
WHSC1	7468	broad.mit.edu	37	4	1976594	1976594	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:1976594G>A	ENST00000382895.3	+	21	3808	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	WHSC1_ENST00000508803.1_Missense_Mutation_p.R1126H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1126H|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R474H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1126H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1126	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTACAGGACCGTATAATAGAC	0.428000			T	IGH@	MM								4	220					0	0	0.150653	0	0
ZNF492	57615	broad.mit.edu	37	19	22836734	22836734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22836734C>A	ENST00000456783.2	+	3	291	c.47C>A	c.(46-48)tCt>tAt	p.S16Y		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S16Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTGCTGCCTCTAAGCCAGAC	0.398000													14	151					3.8784e-16	4.58053e-16	0.062417	1	0
PCDHB2	0	broad.mit.edu	37	5	140476346	140476346	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:140476346G>A	ENST00000194155.4	+	1	2120	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		658	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A658T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.711000													23	58					0	0	0.108266	0	0
NAT8L	339983	broad.mit.edu	37	4	2065543	2065543	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:2065543C>T	ENST00000423729.2	+	3	598	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	NAT8L_ENST00000331662.3_Missense_Mutation_p.R32W	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	200	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGTGGCTGCACGGGCCCACGA	0.662000													4	101					0	0	0.150653	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103090670	103090670	+	Silent	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:103090670T>G	ENST00000375735.2	+	56	9003	c.8859T>G	c.(8857-8859)ctT>ctG	p.L2953L	DYNC2H1_ENST00000398093.3_Silent_p.L2953L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2953	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.L386L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACAGAACTTGAAAGACTGA	0.259000													3	8					0	0	0.115264	0	0
TSPAN7	7102	broad.mit.edu	37	X	38540490	38540490	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:38540490G>C	ENST00000378482.2	+	6	807	c.630G>C	c.(628-630)gaG>gaC	p.E210D	TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	210					interspecies interaction between organisms	integral to plasma membrane		p.E210D(2)|p.E205D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTTCATGGAGACTAACATGG	0.478000													59	105					0	0	0.139131	0	0
ZNF536	9745	broad.mit.edu	37	19	31039026	31039026	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:31039026A>G	ENST00000355537.3	+	4	2647	c.2500A>G	c.(2500-2502)Agg>Ggg	p.R834G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R834G(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGTTCATCAGGCCAGACAT	0.587000													5	225					0	0	0.029380	0	0
LRIG2	9860	broad.mit.edu	37	1	113655223	113655223	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:113655223A>G	ENST00000361127.4	+	14	2119	c.1921A>G	c.(1921-1923)Act>Gct	p.T641A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	641	Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane		p.T641A(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGATGGTGGTACTGACTTTCC	0.493000													5	201					0	0	0.021553	0	0
VWCE	220001	broad.mit.edu	37	11	61034970	61034970	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:61034970C>T	ENST00000335613.5	-	16	2315	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	VWCE_ENST00000535710.1_Silent_p.P108P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	643	VWFC 5.					extracellular region	calcium ion binding	p.P643P(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCAGCACAGACGGGAAGGTCT	0.597000													40	83					0	0	0.080422	0	0
ABCB5	340273	broad.mit.edu	37	7	20685387	20685387	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:20685387C>T	ENST00000404938.2	+	8	1339	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	415					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGGTCATCTCATTGACCA	0.403000													4	231					0	0	0.014758	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089935	113089935	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:113089935A>G	ENST00000409871.1	+	12	3841	c.3440A>G	c.(3439-3441)gAt>gGt	p.D1147G	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1147							nucleic acid binding|zinc ion binding	p.D1147G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGTACAGTGATCCAAGGCAG	0.517000													6	149					0	0	0.021553	0	0
C20orf194	25943	broad.mit.edu	37	20	3251194	3251194	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:3251194C>T	ENST00000252032.9	-	30	2732	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	889								p.V889M(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTGAATACCACGTTACTCACC	0.557000													11	103					0	0	0.069234	0	0
CDH6	1004	broad.mit.edu	37	5	31317551	31317551	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:31317551G>A	ENST00000265071.2	+	10	1847	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T	CDH6_ENST00000514738.1_Missense_Mutation_p.A473T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	528	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.A528T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTTTCCTTGGCCCCTGAAGC	0.413000													51	163					0	0	0.139131	0	0
GNAO1	2775	broad.mit.edu	37	16	56362633	56362633	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:56362633T>C	ENST00000262494.7	+	4	654	c.394T>C	c.(394-396)Tgg>Cgg	p.W132R	GNAO1_ENST00000262493.6_Missense_Mutation_p.W132R	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	132					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.W132R(3)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GATGCGGCTCTGGGGCGACTC	0.587000													16	91					0	0	0.132662	0	0
RYR3	6263	broad.mit.edu	37	15	33990173	33990173	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:33990173C>T	ENST00000389232.4	+	40	6295	c.6225C>T	c.(6223-6225)aaC>aaT	p.N2075N	RYR3_ENST00000415757.3_Silent_p.N2075N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2075	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.N2075N(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGGTGAACGTGTTGGGTA	0.493000													47	212					0	0	0.139131	0	0
SPEN	23013	broad.mit.edu	37	1	16257094	16257094	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16257094C>T	ENST00000375759.3	+	11	4563	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1453					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.S1453S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTAAATCCCTCTCTTCAT	0.363000													66	163					0	0	0.139131	0	0
PON2	5445	broad.mit.edu	37	7	95053856	95053856	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:95053856A>G	ENST00000536183.1	-	2	362	c.179T>C	c.(178-180)cTt>cCt	p.L60P	PON2_ENST00000222572.3_Missense_Mutation_p.L39P|PON2_ENST00000433091.2_Missense_Mutation_p.L39P	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	39					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	p.L39P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GCAGTGTGGAAGGTCTACAGA	0.333000													16	183					0	0	0.160694	0	0
BTN3A1	0	broad.mit.edu	37	6	26407900	26407900	+	Splice_Site	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26407900A>T	ENST00000289361.6	+	4	803	c.433_splice	c.e4-1	p.A145_splice	BTN3A1_ENST00000425234.2_Splice_Site_p.A145_splice|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Splice_Site_p.A145_splice	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	145	Ig-like V-type 2.				lipid metabolic process	integral to membrane		p.A145A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCACAGCACTGGGTTCTG	0.473000													4	111					0	0	0.150653	0	0
DPP3	10072	broad.mit.edu	37	11	66259193	66259193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:66259193C>T	ENST00000532677.1	+	9	1412	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000360510.2_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000453114.1_Silent_p.Y318Y	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	318					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.Y318Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGAGAGCTACCGCGACCCCT	0.612000													6	390					0	0	0.029380	0	0
PTEN	5728	broad.mit.edu	37	10	89692871	89692871	+	Missense_Mutation	SNP	G	G	T	rs139767111		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:89692871G>T	ENST00000371953.3	+	5	1712	c.355G>T	c.(355-357)Gtt>Ttt	p.V119F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	119	Phosphatase tensin-type.		V -> L (in multiple cancers).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGACAATCATGTTGCAGCAAT	0.403000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			58	83					5.00936e-31	6.12752e-31	0.139131	1	0
SLC4A8	9498	broad.mit.edu	37	12	51883662	51883662	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:51883662G>A	ENST00000453097.2	+	19	2844	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R903Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	876					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)		CTGGGCATCCGAGAACAGAGA	0.473000													5	329					0	0	0.021553	0	0
SUMF2	25870	broad.mit.edu	37	7	56142370	56142370	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:56142370G>A	ENST00000434526.2	+	5	564	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.R159Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000395435.2_Intron	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	159						endoplasmic reticulum lumen	metal ion binding	p.R159L(1)|p.R178L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTGCTTGGCGGGGAAAACGA	0.587000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	226					0	0	0.014758	0	0
G2E3	55632	broad.mit.edu	37	14	31066642	31066642	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:31066642C>T	ENST00000206595.6	+	7	699	c.545C>T	c.(544-546)gCg>gTg	p.A182V	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.A136V|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.A182V(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAATAAATGCGGGAGTGTTT	0.313000													9	380					0	0	0.058154	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635274	122635274	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:122635274C>A	ENST00000249284.2	-	1	480	c.415G>T	c.(415-417)Gta>Tta	p.V139L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	139					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.V139L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGATTGTTACACAAGTAATC	0.403000													4	171					0.150653	0.158766	0.150653	1	0
ATM	472	broad.mit.edu	37	11	108205768	108205768	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:108205768G>A	ENST00000278616.4	+	55	8468	c.8083G>A	c.(8083-8085)Ggt>Agt	p.G2695S	ATM_ENST00000452508.2_Missense_Mutation_p.G2695S|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2695S(4)|p.G2695C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTAGCAGGAGGTGTAAATTT	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	185					0	0	0.108266	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54635836	54635836	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:54635836A>G	ENST00000230640.5	+	6	769		c.e6-1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.?(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCACATTTGTAGGTATGCCAT	0.303000													25	120					0	0	0.083992	0	0
SEMA3D	223117	broad.mit.edu	37	7	84694822	84694822	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:84694822A>G	ENST00000284136.6	-	6	679	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_ENST00000444867.1_Silent_p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	212	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.D212D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423000													6	95					0	0	0.021553	0	0
KIF5A	3798	broad.mit.edu	37	12	57962799	57962799	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:57962799C>T	ENST00000455537.2	+	9	1042	c.768C>T	c.(766-768)aaC>aaT	p.N256N	KIF5A_ENST00000286452.5_Silent_p.N167N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	256	Kinesin-motor.|Microtubule-binding.		Missing (in SPG10).|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.N256N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAATATCAACAAGTCACTGT	0.557000													16	97					0	0	0.160694	0	0
SKAP1	8631	broad.mit.edu	37	17	46262165	46262165	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:46262165G>A	ENST00000336915.6	-	7	556	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	SKAP1_ENST00000584924.1_Missense_Mutation_p.R163W	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	163	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.R163W(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGCCATCCGTACACCGTAG	0.542000													29	165					0	0	0.163468	0	0
REG3G	130120	broad.mit.edu	37	2	79255008	79255008	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:79255008C>G	ENST00000272324.5	+	5	593	c.409C>G	c.(409-411)Ccc>Gcc	p.P137A	REG3G_ENST00000409471.1_Missense_Mutation_p.P91A|REG3G_ENST00000393897.2_Missense_Mutation_p.P137A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	137	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.P137A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGAAAAATCCCTCCACCAT	0.517000													70	183					0	0	0.139131	0	0
HELB	92797	broad.mit.edu	37	12	66696411	66696411	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:66696411C>A	ENST00000247815.4	+	1	87	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	10					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Q10K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCTGCGCCAACTTCAGGG	0.557000													6	116					5.18039e-06	5.91428e-06	0.038147	1	0
CDC7	8317	broad.mit.edu	37	1	91989955	91989955	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:91989955C>A	ENST00000428239.1	+	12	1947	c.1688C>A	c.(1687-1689)gCt>gAt	p.A563D	CDC7_ENST00000234626.6_Missense_Mutation_p.A563D|CDC7_ENST00000430031.2_Missense_Mutation_p.A535D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	563	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A563D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCAGAAGAAGCTTTGTTGCAT	0.328000													14	263					1.5842e-08	1.83928e-08	0.105934	1	0
NR5A2	2494	broad.mit.edu	37	1	200089985	200089985	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:200089985T>C	ENST00000367362.3	+	7	1526	c.1280T>C	c.(1279-1281)cTc>cCc	p.L427P	NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P|NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	427					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCAACAACCTCATGAGTCAT	0.418000													3	209					0	0	0.150653	0	0
PSMA8	143471	broad.mit.edu	37	18	23759096	23759096	+	Splice_Site	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:23759096T>C	ENST00000308268.6	+	6	767		c.e6+2		PSMA8_ENST00000343848.6_Splice_Site|PSMA8_ENST00000415576.2_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCTTTGAAGGTAAGTCATTAA	0.313000													3	172					0	0	0.115264	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303000													5	148					0	0	0.014758	0	0
GOLGA2	2801	broad.mit.edu	37	9	131023799	131023799	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:131023799T>A	ENST00000421699.2	-	15	1197	c.1185A>T	c.(1183-1185)aaA>aaT	p.K395N		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	395						Golgi cisterna membrane	protein binding	p.K383N(1)|p.K395N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCCGCATATTTATCTCTCT	0.517000													9	217					0	0	0.058154	0	0
ZC3H4	23211	broad.mit.edu	37	19	47589711	47589711	+	Missense_Mutation	SNP	C	C	T	rs653615		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:47589711C>T	ENST00000253048.5	-	6	837	c.800G>A	c.(799-801)gGc>gAc	p.G267D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	267	Gly-rich.						nucleic acid binding|zinc ion binding	p.G267D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTGCCCCTGCCTCGGCTGCC	0.667000													4	81					0	0	0.150653	0	0
GYPC	2995	broad.mit.edu	37	2	127453705	127453705	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:127453705A>T	ENST00000259254.4	+	4	705	c.374A>T	c.(373-375)gAg>gTg	p.E125V	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	125						cortical cytoskeleton|integral to plasma membrane	protein binding	p.E125V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGCAGAAAGGAGTACTTTATT	0.547000													14	76					0	0	0.105934	0	0
WDR6	11180	broad.mit.edu	37	3	49051423	49051423	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:49051423C>A	ENST00000395474.3	+	2	2826	c.2546C>A	c.(2545-2547)aCt>aAt	p.T849N	WDR6_ENST00000448293.1_Missense_Mutation_p.T768N|WDR6_ENST00000415265.2_Missense_Mutation_p.T267N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	819					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.T819N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ATCATGGTTACTCCGGACCCC	0.647000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	107					0.0215528	0.0230682	0.021553	1	0
PDILT	204474	broad.mit.edu	37	16	20370791	20370791	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:20370791C>T	ENST00000302451.4	-	12	1853	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	535					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.S535S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCAGGCGACTGCTGTT	0.502000													12	468					0	0	0.062417	0	0
OR5T1	390155	broad.mit.edu	37	11	56043918	56043918	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:56043918C>T	ENST00000313033.2	+	1	890	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L268L(1)		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)					GGACAATCCTCTTCATGTATG	0.428000													165	329					0	0	0.139131	0	0
GPI	2821	broad.mit.edu	37	19	34887247	34887247	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:34887247A>G	ENST00000415930.3	+	13	1307	c.1137A>G	c.(1135-1137)ggA>ggG	p.G379G	GPI_ENST00000586425.1_Silent_p.G368G|GPI_ENST00000356487.5_Silent_p.G368G	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	368					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAAATCTGGAACCCGTGTGG	0.502000													4	209					0	0	0.014758	0	0
SLX4	84464	broad.mit.edu	37	16	3640681	3640681	+	Silent	SNP	G	G	A	rs148111699		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3640681G>A	ENST00000294008.3	-	12	3598	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	986	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.L986L(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGATGAGAAGAGCTGTTCGT	0.557000								Direct reversal of damage					7	180					0	0	0.058154	0	0
WASH3P	0	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642000													4	31					0	0	0.021553	0	0
NBPF3	84224	broad.mit.edu	37	1	21799965	21799965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:21799965C>A	ENST00000318220.6	+	10	1707	c.659C>A	c.(658-660)tCc>tAc	p.S220Y	NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000318249.5_Missense_Mutation_p.S276Y			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	276						cytoplasm		p.S276Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTGTGAGTCCAACCAGCCT	0.493000													7	436					0.00198382	0.00215701	0.029380	1	0
CCDC147	159686	broad.mit.edu	37	10	106125599	106125599	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:106125599A>C	ENST00000369704.3	+	5	759	c.625A>C	c.(625-627)Aac>Cac	p.N209H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	209								p.N209H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAACGTCAGAACGAAGCTTC	0.512000													4	86					0	0	0.150653	0	0
LRRK1	79705	broad.mit.edu	37	15	101593153	101593153	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:101593153A>G	ENST00000284395.5	+	26	4107	c.3707A>G	c.(3706-3708)gAg>gGg	p.E1236G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1239G			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1239					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1239G(1)|p.E1251G(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAAGCTGGAGCACAGCGAG	0.692000													3	60					0	0	0.115264	0	0
F11	2160	broad.mit.edu	37	4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:187206814C>T	ENST00000264692.4	+	12	1504	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	F11_ENST00000403665.2_Missense_Mutation_p.R443C			P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358000													4	215					0	0	0.014758	0	0
MPDZ	8777	broad.mit.edu	37	9	13224386	13224386	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:13224386T>G	ENST00000319217.7	-	4	627	c.380A>C	c.(379-381)aAa>aCa	p.K127T	MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	127					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.K127T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCCATATTTTTGATAAGCTG	0.338000													53	207					0	0	0.139131	0	0
CXADRP3	0	broad.mit.edu	37	18	14479261	14479261	+	RNA	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:14479261C>T	ENST00000581457.1	-	0	647					NR_024076.1																						GCAGCAGGAGCGCCATGGTGG	0.597000													4	17					0	0	0.014758	0	0
TAF1L	138474	broad.mit.edu	37	9	32632973	32632973	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:32632973C>T	ENST00000242310.4	-	1	2694	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	869					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.A869T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAAGTCAGCGCAGAGCTTT	0.463000													11	307					0	0	0.080935	0	0
TNS1	7145	broad.mit.edu	37	2	218750505	218750505	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:218750505T>C	ENST00000171887.4	-	13	1155	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000310858.6_Missense_Mutation_p.T266A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	235	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.T235A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCTCGATGGTGATGCAGACG	0.532000													6	145					0	0	0.029380	0	0
HOXD3	3232	broad.mit.edu	37	2	177034058	177034058	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:177034058C>T	ENST00000468418.3	+	3	2306	c.216C>T	c.(214-216)agC>agT	p.S72S	HOXD3_ENST00000410016.1_Silent_p.S72S|HOXD3_ENST00000249440.3_Silent_p.S72S			P31249	HXD3_HUMAN	homeobox D3	72					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S72S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCATCCAGAGCTCTGCCCCTC	0.652000													36	101					0	0	0.086207	0	0
VPS13A	23230	broad.mit.edu	37	9	79938099	79938099	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:79938099A>G	ENST00000360280.3	+	45	6207	c.5947A>G	c.(5947-5949)Aca>Gca	p.T1983A	VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1983					Golgi to endosome transport|protein transport	intracellular	protein binding	p.T1983A(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAATTGATACAGTAGAAGG	0.403000													3	186					0	0	0.115264	0	0
IRF6	3664	broad.mit.edu	37	1	209963071	209963071	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:209963071A>C	ENST00000367021.3	-	8	1292	c.1120T>G	c.(1120-1122)Tgc>Ggc	p.C374G	IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	374			C -> W (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.C374G(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCCAAAGCATAAGTAGATC	0.443000										HNSCC(57;0.16)			3	156					0	0	0.115264	0	0
PLCD4	84812	broad.mit.edu	37	2	219498481	219498481	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:219498481G>T	ENST00000450993.2	+	11	1942	c.1603G>T	c.(1603-1605)Gct>Tct	p.A535S	PLCD4_ENST00000417849.1_Missense_Mutation_p.A535S|PLCD4_ENST00000432688.1_Missense_Mutation_p.A567S	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	535	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.A535S(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCAAGGAGGCTGGTCAGGA	0.507000													5	60					1.23904e-05	1.40288e-05	0.014758	1	0
GZMH	2999	broad.mit.edu	37	14	25076555	25076555	+	Missense_Mutation	SNP	T	T	G	rs144759599		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:25076555T>G	ENST00000216338.4	-	4	441	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	133	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.K133Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		ACCTGGGCCTTGCTGCTAGGT	0.572000													7	116					0	0	0.069234	0	0
KCNG1	3755	broad.mit.edu	37	20	49620929	49620929	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:49620929C>T	ENST00000371571.4	-	3	1474	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	397						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V397I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCTCGATGACGTAGAGCAGG	0.662000													4	72					0	0	0.150653	0	0
KLHL2	11275	broad.mit.edu	37	4	166218818	166218818	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:166218818A>C	ENST00000226725.6	+	7	971	c.712A>C	c.(712-714)Atg>Ctg	p.M238L	KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	238					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	p.M238L(2)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GCAAGAGTTTATGGCCCGACT	0.393000													4	174					0	0	0.014758	0	0
COL15A1	1306	broad.mit.edu	37	9	101748355	101748355	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:101748355C>T	ENST00000375001.3	+	3	1032	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	203	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.F203F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGAATCTTCATGGGCAATG	0.557000													4	138					0	0	0.014758	0	0
KCNN2	3781	broad.mit.edu	37	5	113740445	113740445	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:113740445C>G	ENST00000512097.3	+	4	1911	c.893C>G	c.(892-894)aCa>aGa	p.T298R	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.T298R			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	298						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.T298R(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AACTTCAATACACGTTTTGTT	0.383000													7	376					0	0	0.029380	0	0
SMG1	23049	broad.mit.edu	37	16	18866183	18866183	+	Silent	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:18866183T>C	ENST00000446231.2	-	30	4690	c.4278A>G	c.(4276-4278)ctA>ctG	p.L1426L	SMG1_ENST00000389467.3_Silent_p.L1426L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1426	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCTGCTGTTAGACCTAATT	0.438000													6	257					0	0	0.021553	0	0
CTCFL	140690	broad.mit.edu	37	20	56099193	56099193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:56099193C>T	ENST00000426658.2	-	1	730	c.69G>A	c.(67-69)ccG>ccA	p.P23P	CTCFL_ENST00000433949.2_Silent_p.P23P|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000422109.2_Silent_p.P23P|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000429804.2_Silent_p.P23P|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Silent_p.P23P|CTCFL_ENST00000371196.2_Silent_p.P23P			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	23					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.P23P(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGCCTTTTTCCGGCATCAACT	0.507000													241	498					0	0	0.139131	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701000													5	7					0	0	0.014758	0	0
MSMP	692094	broad.mit.edu	37	9	35753744	35753744	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:35753744T>G	ENST00000436428.2	-	2	291	c.152A>C	c.(151-153)aAa>aCa	p.K51T	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	51						extracellular region		p.K51T(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GGTAAAATATTTCCCCTCATA	0.537000													9	60					0	0	0.047766	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17958926	17958926	+	Silent	SNP	C	C	T	rs116425261	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:17958926C>T	ENST00000361221.3	+	16	1854	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000375415.1_Silent_p.L526L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L|ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000375420.3_Silent_p.L323L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	565					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.L565L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTTCCTGCTCAACGACATGC	0.602000													7	288					0	0	0.038147	0	0
CCDC25	55246	broad.mit.edu	37	8	27605731	27605731	+	Silent	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr8:27605731G>C	ENST00000356537.4	-	7	507	c.414C>G	c.(412-414)gtC>gtG	p.V138V	CCDC25_ENST00000522915.1_Silent_p.V70V|CCDC25_ENST00000539095.1_Silent_p.V70V|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	138								p.V138V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGAACCGCTCGACTTTGGTCT	0.393000													39	175					0	0	0.098360	0	0
C1orf173	127254	broad.mit.edu	37	1	75072359	75072359	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:75072359A>T	ENST00000326665.5	-	10	1633	c.1415T>A	c.(1414-1416)gTg>gAg	p.V472E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	472	Glu-rich.							p.V472E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTCCTCCACAGCAGTTAC	0.363000													9	495					0	0	0.058154	0	0
KCNH4	23415	broad.mit.edu	37	17	40328219	40328219	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:40328219T>G	ENST00000264661.3	-	5	1014	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	228					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGTCCCAGATGGCCTTGGAG	0.592000													3	230					0	0	0.115264	0	0
OR2C1	4993	broad.mit.edu	37	16	3406160	3406160	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3406160G>A	ENST00000304936.2	+	1	272	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A74T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTTGCTTTCGCTACTAGTTC	0.522000													40	297					0	0	0.086207	0	0
MATR3	9782	broad.mit.edu	37	5	138643657	138643657	+	Silent	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:138643657A>C	ENST00000394800.2	+	6	1102	c.553A>C	c.(553-555)Aga>Cga	p.R185R	MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000394805.3_Silent_p.R185R|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000361059.2_Silent_p.R185R			P43243	MATR3_HUMAN	matrin 3	185						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	p.R185R(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCACTTTAGAAGAGATAG	0.443000													5	143					0	0	0.021553	0	0
ATP10B	23120	broad.mit.edu	37	5	160042863	160042863	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:160042863T>G	ENST00000327245.5	-	17	3481	c.2635A>C	c.(2635-2637)Aat>Cat	p.N879H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	879					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.N879H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGTTGATTCTCCAGATGC	0.493000													114	173					0	0	0.139131	0	0
PAXIP1	22976	broad.mit.edu	37	7	154754078	154754078	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:154754078G>A	ENST00000404141.1	-	10	2234	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	694	BRCT 3.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.H660Y(1)|p.H694Y(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACTGGGAAGTGAAGGGCTCGG	0.468000													5	163					0	0	0.021553	0	0
ABCB7	22	broad.mit.edu	37	X	74318818	74318818	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:74318818C>A	ENST00000253577.3	-	4	439	c.415G>T	c.(415-417)Gct>Tct	p.A139S	ABCB7_ENST00000373394.3_Missense_Mutation_p.A138S|ABCB7_ENST00000339447.4_Intron	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	138					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.A139S(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCAACTCTAGCTCGTAGATCT	0.363000													55	70					9.16383e-17	1.09169e-16	0.139131	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79051880	79051880	+	Silent	SNP	C	C	T	rs1045121	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:79051880C>T	ENST00000388820.4	-	24	5154	c.4944G>A	c.(4942-4944)acG>acA	p.T1648T		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1648	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1648T(5)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTAGGCGCAGCGTCTCGCAGA	0.697000													5	7					0	0	0.014758	0	0
SNX30	401548	broad.mit.edu	37	9	115631068	115631068	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:115631068T>C	ENST00000374232.3	+	9	1423	c.1259T>C	c.(1258-1260)cTc>cCc	p.L420P	SNX30_ENST00000604751.1_Intron	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	420					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCCAGTGCCTCATGGCGTGG	0.493000													3	195					0	0	0.150653	0	0
BRDT	676	broad.mit.edu	37	1	92442729	92442729	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:92442729C>G	ENST00000370389.2	+	6	1453	c.529C>G	c.(529-531)Cca>Gca	p.P177A	BRDT_ENST00000362005.3_Missense_Mutation_p.P250A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Missense_Mutation_p.P204A|BRDT_ENST00000402388.1_Missense_Mutation_p.P250A|BRDT_ENST00000399546.2_Missense_Mutation_p.P250A	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.P250A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAAAATATGCCAAAGAATGT	0.348000													4	140					0	0	0.150653	0	0
KIF2B	84643	broad.mit.edu	37	17	51900688	51900688	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:51900688G>T	ENST00000268919.4	+	1	450	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	98					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L98F(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCCCCTTGGCTCTGGCGC	0.587000													6	260					0.00198382	0.00215701	0.029380	1	0
OTX2	5015	broad.mit.edu	37	14	57268617	57268617	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:57268617C>G	ENST00000339475.5	-	5	1006	c.730G>C	c.(730-732)Gct>Cct	p.A244P	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P|OTX2_ENST00000555006.1_Missense_Mutation_p.A236P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	236					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.A244P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAAAGAGAAGCTGGGGACTGA	0.502000													66	128					0	0	0.139131	0	0
AJ271736.10	0	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:155255062C>G	ENST00000285718.7	+	0	1367				WASH6P_ENST00000461007.1_RNA																							CACCTTCCCCCCCAGACCCAG	0.627000													4	27					0	0	0.029380	0	0
ARID5B	84159	broad.mit.edu	37	10	63851205	63851205	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:63851205C>G	ENST00000279873.7	+	10	2393	c.1983C>G	c.(1981-1983)gaC>gaG	p.D661E	ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	661					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.D661E(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACAAAGACCTGACTGGGC	0.537000													3	59					0	0	0.115264	0	0
ABCD3	5825	broad.mit.edu	37	1	94980700	94980700	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:94980700A>G	ENST00000370214.4	+	22	1869		c.e22-1		ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCTTTGTATTAGGTTGGCATC	0.328000													3	245					0	0	0.115264	0	0
AJ271736.10	0	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:155255043G>A	ENST00000285718.7	+	0	1348				WASH6P_ENST00000461007.1_RNA																							ATCCTAGGGGGCTCCATGACA	0.642000													4	26					0	0	0.021553	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576525	158576525	+	Silent	SNP	C	C	T	rs146841755		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:158576525C>T	ENST00000361284.1	+	1	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99A(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTGTGCTGCCCAGATGTTCT	0.542000													107	396					0	0	0.139131	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716066	50716066	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:50716066T>C	ENST00000449103.1	-	33	5290	c.5150A>G	c.(5149-5151)cAg>cGg	p.Q1717R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R			O15031	PLXB2_HUMAN	plexin B2	1717					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.Q1760R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGAAGGTCTGCGCGATGAC	0.627000													3	119					0	0	0.150653	0	0
TIGD3	220359	broad.mit.edu	37	11	65123663	65123663	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:65123663A>G	ENST00000309880.5	+	2	591	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	128	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.K128K(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCGCTGGAAACGCCGAAACA	0.657000													7	62					0	0	0.047766	0	0
LBR	3930	broad.mit.edu	37	1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:225607439T>C	ENST00000338179.2	-	4	553	c.428A>G	c.(427-429)gAc>gGc	p.D143G	LBR_ENST00000272163.4_Missense_Mutation_p.D143G	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	143	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	p.D143G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGAGGTGCGTCATTTCTCTC	0.348000													4	297					0	0	0.014758	0	0
DPEP1	1800	broad.mit.edu	37	16	89703762	89703762	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:89703762G>A	ENST00000393092.3	+	7	1033	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	DPEP1_ENST00000261615.4_Missense_Mutation_p.V248M|DPEP1_ENST00000421184.1_Missense_Mutation_p.V248M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	248					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.V248M(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCGGCGCAACGTGCCTGACGA	0.682000													3	42					0	0	0.150653	0	0
ROS1	6098	broad.mit.edu	37	6	117663708	117663708	+	Splice_Site	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:117663708C>A	ENST00000368508.3	-	28	4723		c.e28-1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.?(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTGAAATTCCTGTAATTGAT	0.254000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								14	46					4.3838e-07	5.0469e-07	0.105934	1	0
RFPL1	5988	broad.mit.edu	37	22	29837851	29837851	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:29837851C>T	ENST00000354373.2	+	2	903	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	232	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGCACGGTGCCGCTGACTTT	0.522000													4	163					0	0	0.014758	0	0
MTMR12	54545	broad.mit.edu	37	5	32274132	32274132	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:32274132A>C	ENST00000382142.3	-	3	409	c.239T>G	c.(238-240)tTc>tGc	p.F80C	MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C|MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	80						cytoplasm	phosphatase activity	p.F80C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCAATCTTGAAGTCTGTGCA	0.483000													12	310					0	0	0.105934	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3641788	3641788	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:3641788C>T	ENST00000335312.3	-	15	1790	c.1702G>A	c.(1702-1704)Gcg>Acg	p.A568T	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A568T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	568					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.A568T(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCTCTTCCGCGGGTGGCTCC	0.637000													28	44					0	0	0.116897	0	0
UTP3	57050	broad.mit.edu	37	4	71555682	71555682	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:71555682C>T	ENST00000254803.2	+	1	1487	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	430					brain development|chromatin modification|gene silencing	nucleolus		p.R430C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAAGATTGATCGCAATCCCAG	0.408000													5	215					0	0	0.014758	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252136	26252136	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26252136G>T	ENST00000356350.2	+	1	258	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	86					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K86N(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ATTACAACAAGCGTTCGACCA	0.607000													15	167					1.35283e-19	1.62577e-19	0.146539	1	0
SH3TC2	79628	broad.mit.edu	37	5	148407223	148407223	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:148407223G>A	ENST00000538184.1	-	7	1601	c.713C>T	c.(712-714)gCc>gTc	p.A238V	SH3TC2_ENST00000515425.1_Missense_Mutation_p.A691V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	691							binding	p.A576V(1)|p.A691V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACAGAGGCCACTGCAAG	0.527000													49	176					0	0	0.139131	0	0
UNC13A	23025	broad.mit.edu	37	19	17780382	17780382	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:17780382G>A	ENST00000428389.2	-	6	637	c.638C>T	c.(637-639)aCg>aTg	p.T213M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	125					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T213M(2)|p.T125M(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612000													3	64					0	0	0.150653	0	0
TRIM25	7706	broad.mit.edu	37	17	54969322	54969322	+	Silent	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:54969322G>A	ENST00000316881.4	-	9	1681	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	TRIM25_ENST00000537230.1_Silent_p.R544R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	544	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R544R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					AGGCGCTGTTGCGGCCGAGCC	0.602000													37	94					0	0	0.092188	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975223	42975223	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:42975223C>T	ENST00000485511.1	+	6	884	c.705C>T	c.(703-705)atC>atT	p.I235I	PPP2R5D_ENST00000461010.1_Silent_p.I129I|PPP2R5D_ENST00000394110.3_Silent_p.I203I|PPP2R5D_ENST00000472118.1_Silent_p.I227I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	235					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.I235I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGTACATCGACCAGAAGT	0.512000													16	224					0	0	0.043863	0	0
ZNF98	148198	broad.mit.edu	37	19	22585674	22585674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22585674G>T	ENST00000357774.5	-	3	291	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTCTGGCTTAGAGGCAGCAAT	0.393000													34	130					3.03874e-20	3.68414e-20	0.183431	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786251	121786251	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:121786251G>T	ENST00000261367.7	+	12	3278	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R570I			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	570					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.R617I(1)|p.R570I(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTGCCTCCAGAAAGTCCCAG	0.458000													11	348					3.86212e-05	4.33697e-05	0.069234	1	0
SUPT5H	6829	broad.mit.edu	37	19	39959750	39959750	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:39959750A>G	ENST00000599117.1	+	16	1542	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	392	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.E392G(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACTCTCTGAGCTGGAAAAG	0.567000													17	115					0	0	0.062417	0	0
SMG7	9887	broad.mit.edu	37	1	183513545	183513545	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:183513545G>C	ENST00000367537.3	+	16	2044	c.1849G>C	c.(1849-1851)Gta>Cta	p.V617L	SMG7_ENST00000347615.2_Missense_Mutation_p.V634L|SMG7_ENST00000515829.2_Missense_Mutation_p.V588L|SMG7_ENST00000508461.1_Missense_Mutation_p.V592L|SMG7_ENST00000507469.1_Missense_Mutation_p.V588L|SMG7_ENST00000456731.2_Missense_Mutation_p.V546L			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	634					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.V634L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAAACACCTGTAACTCAAAC	0.423000													4	182					0	0	0.150653	0	0
CDH12	1010	broad.mit.edu	37	5	21755850	21755850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:21755850G>A	ENST00000382254.1	-	14	2821	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	579	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q579*(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGCTGCTCTGGACAGGGTAG	0.468000										HNSCC(59;0.17)			4	207					0	0	0.021553	0	0
FSCN2	25794	broad.mit.edu	37	17	79496338	79496338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:79496338G>T	ENST00000417245.2	+	1	917	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	261					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	p.V261L(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCACCCACAGGTGGTGCTGGT	0.662000													4	7					0.150653	0.158766	0.150653	1	0
FERMT3	83706	broad.mit.edu	37	11	63978262	63978262	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:63978262G>T	ENST00000279227.5	+	3	435	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	114					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.A114S(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCTCCGTGCCAGCTTCTC	0.667000													6	192					0.00198382	0.00215701	0.029380	1	0
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aafs	p.K4fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627													7	759	---	---	---	---					
PDZRN3	23024	broad.mit.edu	37	3	73437147	73437148	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:73437147_73437148insA	ENST00000263666.4	-	8	1603_1604	c.1489_1490insT	c.(1489-1491)attfs	p.I497fs	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.I154fs|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.I214fs|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.I154fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.I219fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	497	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AATCAGCAATGAAAAGTTTTTA	0.421													265	502	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150886733	150886733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:150886733delA	ENST00000261800.5	-	22	12511	c.12499delT	c.(12499-12501)ggfs	p.W4167fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4167					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGGACCAGGTTCTCTTA	0.557													57	163	---	---	---	---					
PCSK5	5125	broad.mit.edu	37	9	78790207	78790208	+	Frame_Shift_Ins	INS	-	-	GAATA	rs55947300		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:78790207_78790208insGAATA	ENST00000376767.3	+	14	2574_2575	c.2062_2063insGAATA	c.(2062-2064)aatfs	p.N688fs	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatagaatag	0.342													4	8	---	---	---	---					
PIPSL	0	broad.mit.edu	37	10	95718422	95718422	+	RNA	DEL	T	T	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:95718422delT	ENST00000480546.1	-	0	2875					NR_002319.2																						tctttctttcttttttttttG	0.303													2	4	---	---	---	---					
RP11-468E2.4	0	broad.mit.edu	37	14	24621084	24621085	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:24621084_24621085delGA	ENST00000558468.1	+	3	438_439	c.438_439delGA	c.(436-441)agacfs	p.RN146fs	RNF31_ENST00000559275.1_Frame_Shift_Del_p.RN520fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.RN520fs|RNF31_ENST00000324103.6_Frame_Shift_Del_p.RN671fs																							AGACACCCAGGAACTATGAGTT	0.634													29	213	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061220	38061225	+	In_Frame_Del	DEL	CGTTCT	CGTTCT	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:38061220_38061225delCGTTCT	ENST00000250448.2	-	2	825_830	c.764_769delAGAACG	c.(763-771)ggc>g	p.ENG255del	FOXA1_ENST00000540786.1_In_Frame_Del_p.ENG222del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	255					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTT	0.694													12	24	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:49982165_49982166insC	ENST00000595510.1	+	5	397_398		c.e5-1		CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Splice_Site|FLT3LG_ENST00000595815.1_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000594009.1_Splice_Site|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000596435.1_Intron			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688													2	4	---	---	---	---					
OSER1	51526	broad.mit.edu	37	20	42831694	42831697	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:42831694_42831697delACAG	ENST00000372970.2	-	5	275_278	c.95_98delCTGT	c.(94-99)ttfs	p.SV32fs	OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs					oxidative stress responsive serine-rich 1																		GCCTTCTCCAACAGACAGAGATGC	0.417													35	72	---	---	---	---					
RP5-1043L13.1	0	broad.mit.edu	37	20	58889651	58889662	+	RNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs117834183	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538													3	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085429	11085470	+	RNA	DEL	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	-	rs75467089	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:11085429_11085470delACCACCACCACCACCACCACCACCATCACCACTACCACTACC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaccaccaccaccaccaccaccaccatcaccactaccactaccaccaccacca	0.521													5	9	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085560	11085560	+	RNA	DEL	T	T	-	rs147223908		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:11085560delT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccactaccaccacca	0.592													3	5	---	---	---	---