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
TKTL2	84076	broad.mit.edu	37	4	164393680	164393680	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:164393680G>T	ENST00000280605.3	-	1	1367	c.1207C>A	c.(1207-1209)Cag>Aag	p.Q403K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	403						cytoplasm	metal ion binding|transketolase activity	p.Q403K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATTCGGAGCTGATCGAATGCT	0.488000													19	29					8.28177e-16	1.10227e-15	0.007413	1	0
PPP2R5E	5529	broad.mit.edu	37	14	63863343	63863343	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:63863343C>A	ENST00000337537.3	-	6	1243	c.641G>T	c.(640-642)aGa>aTa	p.R214I	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.R138I|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.R214I|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	214					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R214I(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GATAAATGCTCTAAGACCAAG	0.388000													39	120					4.90274e-10	5.93406e-10	0.006230	1	0
DAB1	1600	broad.mit.edu	37	1	57489281	57489281	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:57489281G>T	ENST00000371236.2	-	11	1081	c.818C>A	c.(817-819)cCa>cAa	p.P273Q	DAB1_ENST00000420954.2_Missense_Mutation_p.P271Q|DAB1_ENST00000414851.2_Missense_Mutation_p.P255Q|DAB1_ENST00000439789.2_Missense_Mutation_p.P187Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P273Q|DAB1_ENST00000371231.1_Missense_Mutation_p.P306Q			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	306					cell differentiation|nervous system development			p.P273Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGATGAAGATGGGATAAAGGC	0.537000													6	18					3.59834e-05	3.94656e-05	0.001168	1	0
HERC2	8924	broad.mit.edu	37	15	28459892	28459892	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:28459892C>A	ENST00000261609.7	-	40	6375	c.6267G>T	c.(6265-6267)agG>agT	p.R2089S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2089					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R2089S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTCCCTCGCCCTTTCGGTCT	0.458000													15	40					1.56452e-12	1.9835e-12	0.007413	1	0
RHPN2	85415	broad.mit.edu	37	19	33517469	33517469	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:33517469C>T	ENST00000254260.3	-	3	290	c.255G>A	c.(253-255)caG>caA	p.Q85Q	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	85					signal transduction	perinuclear region of cytoplasm	protein binding	p.Q85Q(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CCTTGAGCATCTGCAGGTCTG	0.557000													6	215					0	0	0.003080	0	0
E4F1	1877	broad.mit.edu	37	16	2278460	2278460	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:2278460G>T	ENST00000301727.4	+	2	293	c.245G>T	c.(244-246)tGc>tTc	p.C82F	E4F1_ENST00000564139.1_Missense_Mutation_p.C82F|E4F1_ENST00000565090.1_Missense_Mutation_p.C82F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	82	Required for ubiquitin ligase activity.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.C82F(1)		ovary(1)	1						CAGAAGGCCTGCCAGCGGGCC	0.657000													13	27					1.49906e-05	1.65872e-05	0.002450	1	0
CDH5	1003	broad.mit.edu	37	16	66432427	66432427	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:66432427G>A	ENST00000341529.3	+	10	1702	c.1554G>A	c.(1552-1554)ttG>ttA	p.L518L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	518	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.L518F(1)|p.L518L(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AATTCATCTTGAATACTGAGA	0.473000													10	80					0	0	0.010729	0	0
TMED8	283578	broad.mit.edu	37	14	77808117	77808117	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:77808117G>C	ENST00000216468.7	-	6	1030	c.975C>G	c.(973-975)agC>agG	p.S325R		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	325					transport	integral to membrane		p.S325R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGTCCTTCAGCTGGTGTAGT	0.552000													7	86					0	0	0.004482	0	0
OCM2	4951	broad.mit.edu	37	7	97619394	97619394	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:97619394C>A	ENST00000257627.4	-	1	114	c.23G>T	c.(22-24)aGt>aTt	p.S8I	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	8							calcium ion binding	p.S8I(1)		lung(4)	4						GTCATCAGCACTGAGCACGTC	0.552000													13	81					2.62699e-14	3.42332e-14	0.003163	1	0
LRRC4B	94030	broad.mit.edu	37	19	51021452	51021452	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:51021452C>T	ENST00000599957.1	-	3	1715	c.1518G>A	c.(1516-1518)ccG>ccA	p.P506P	LRRC4B_ENST00000389201.3_Silent_p.P506P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	506	Gly-rich.					cell junction|integral to membrane|presynaptic membrane		p.P506P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCGTCCCCCGCGGCTGCAGGG	0.716000													7	7					0	0	0.008291	0	0
PCDH7	5099	broad.mit.edu	37	4	30725202	30725202	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:30725202C>T	ENST00000361762.2	+	1	3166	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P720S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	720	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P720S(1)|p.P673S(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGGGGGAGATCCTCCCAGATC	0.453000													36	127					0	0	0.008740	0	0
ZFP64	55734	broad.mit.edu	37	20	50769377	50769377	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr20:50769377C>T	ENST00000216923.4	-	6	1703	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ZFP64_ENST00000371515.4_Missense_Mutation_p.E450K|ZFP64_ENST00000346617.4_Missense_Mutation_p.E398K|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E452K(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TTCTTACTCTCACTGTACTCA	0.587000													11	94					0	0	0.013537	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021524	46021524	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:46021524G>A	ENST00000380102.2	+	1	1028	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	335	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.A335T(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTCCTGCTGCGCCCCCACCTC	0.716000													5	66					0	0	0.001168	0	0
IQCH	64799	broad.mit.edu	37	15	67713788	67713788	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:67713788C>T	ENST00000335894.4	+	16	2444	c.2378C>T	c.(2377-2379)tCa>tTa	p.S793L	IQCH_ENST00000358767.3_Missense_Mutation_p.S529L|IQCH_ENST00000546225.1_Missense_Mutation_p.S450L|IQCH_ENST00000360277.4_Missense_Mutation_p.S454L|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	793								p.S793L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCTCAGACCTCAGTGGATCCC	0.498000													44	67					0	0	0.010771	0	0
DEPDC7	91614	broad.mit.edu	37	11	33047270	33047270	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:33047270C>G	ENST00000311388.3	+	2	488	c.112C>G	c.(112-114)Caa>Gaa	p.Q38E	DEPDC7_ENST00000241051.3_Missense_Mutation_p.Q47E	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	47					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q38E(1)|p.Q47E(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						AAACACTCTTCAAACACAAGT	0.398000													62	106					0	0	0.014410	0	0
OR8H2	390151	broad.mit.edu	37	11	55873168	55873168	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:55873168C>A	ENST00000313503.1	+	1	650	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATATCTGCATCCTATGTGTTC	0.408000										HNSCC(53;0.14)			47	129					1.86633e-21	2.62409e-21	0.014410	1	0
IGF1R	3480	broad.mit.edu	37	15	99459900	99459900	+	Splice_Site	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:99459900G>T	ENST00000268035.6	+	10	2607		c.e10-1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTTCCGAGAAGACAAAATCCC	0.453000													27	35					1.26454e-06	1.4375e-06	0.005443	1	0
HRNR	388697	broad.mit.edu	37	1	152192637	152192637	+	Missense_Mutation	SNP	C	C	T	rs138042599	byFrequency	TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:152192637C>T	ENST00000368801.2	-	3	1543	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	490					keratinization		calcium ion binding|protein binding	p.G490S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCGTGGCCGGAGGAGTGA	0.547000													46	301					0	0	0.014410	0	0
HCN4	10021	broad.mit.edu	37	15	73617717	73617717	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:73617717G>T	ENST00000261917.3	-	5	2652	c.1659C>A	c.(1657-1659)gaC>gaA	p.D553E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	553			D -> N (in a patient with cardiac arrhythmia).		blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.D553E(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCTCGTAGTAGTCGTGGATGC	0.652000													72	106					4.81439e-37	7.14517e-37	0.014410	1	0
SPTBN2	6712	broad.mit.edu	37	11	66475714	66475714	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:66475714C>T	ENST00000533211.1	-	12	1579	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	SPTBN2_ENST00000529997.1_Silent_p.E416E|SPTBN2_ENST00000309996.2_Silent_p.E416E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	416					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.E416E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCGGATGAGCTCGGTGCGCA	0.687000													14	35					0	0	0.004007	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455614	84455614	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:84455614G>T	ENST00000377084.2	-	1	914	c.29C>A	c.(28-30)aCg>aAg	p.T10K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	10						integral to membrane		p.T10K(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACAAAGAGACGTCTCCAGCAA	0.473000													19	80					7.88262e-20	1.09189e-19	0.003330	1	0
CD69	969	broad.mit.edu	37	12	9906180	9906180	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:9906180T>C	ENST00000228434.3	-	5	577	c.497A>G	c.(496-498)aAc>aGc	p.N166S		NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	166	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity	p.N166S(1)		endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CCCTGTAACGTTGAACCTGTC	0.358000													2	25					0	0	0.004672	0	0
DROSHA	29102	broad.mit.edu	37	5	31421442	31421442	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:31421442C>T	ENST00000511367.2	-	29	3706	c.3462G>A	c.(3460-3462)atG>atA	p.M1154I	DROSHA_ENST00000513349.1_Missense_Mutation_p.M1117I|DROSHA_ENST00000442743.1_Missense_Mutation_p.M1117I|DROSHA_ENST00000344624.3_Missense_Mutation_p.M1154I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1154	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.M1154I(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTACCAGTTGCATTATGGAGT	0.363000													44	144					0	0	0.013114	0	0
OR5A2	219981	broad.mit.edu	37	11	59189984	59189984	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:59189984C>G	ENST00000302040.4	-	1	465	c.443G>C	c.(442-444)gGc>gCc	p.G148A		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G148A(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CACATAGGCGCCAACCACCAT	0.453000													20	55					0	0	0.010504	0	0
SLIT1	6585	broad.mit.edu	37	10	98766421	98766421	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:98766421C>A	ENST00000266058.4	-	32	3643	c.3398G>T	c.(3397-3399)gGg>gTg	p.G1133V	SLIT1_ENST00000371070.4_Missense_Mutation_p.G1133V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1133	EGF-like 6.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G1133V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACTCAGTCCCCTCACAGGG	0.612000													23	24					2.48779e-11	3.11182e-11	0.005443	1	0
FOXI1	2299	broad.mit.edu	37	5	169535247	169535247	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:169535247C>A	ENST00000306268.6	+	2	830	c.769C>A	c.(769-771)Cca>Aca	p.P257T	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	257					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|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	p.P257T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGCCTCACCAGGGGGCAC	0.612000									Pendred syndrome				39	69					2.45108e-15	3.22783e-15	0.008740	1	0
C14orf166B	145497	broad.mit.edu	37	14	77297578	77297578	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:77297578G>C	ENST00000393774.3	+	3	374	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	C14orf166B_ENST00000450042.2_Missense_Mutation_p.E67Q|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	84								p.E84Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGGACAAAAGGAGCTGTACCT	0.517000													15	79					0	0	0.006122	0	0
ZNF521	25925	broad.mit.edu	37	18	22807089	22807089	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr18:22807089T>A	ENST00000361524.3	-	4	941	c.793A>T	c.(793-795)Att>Ttt	p.I265F	ZNF521_ENST00000584787.1_Missense_Mutation_p.I45F|ZNF521_ENST00000538137.2_Missense_Mutation_p.I265F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	265					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.I265F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACTCTGCAATGTGTTTTTGG	0.552000			T	PAX5	ALL								34	74					0	0	0.004289	0	0
CGN	57530	broad.mit.edu	37	1	151503155	151503155	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:151503155G>T	ENST00000271636.7	+	13	2637	c.2504G>T	c.(2503-2505)cGa>cTa	p.R835L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	829	Glu-rich.					myosin complex|tight junction	actin binding|motor activity	p.R835L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCTCCGGCGAGGCAAGGCT	0.652000													3	3					0.00909568	0.00934556	0.009096	1	0
SMARCC2	6601	broad.mit.edu	37	12	56563453	56563453	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:56563453T>G	ENST00000394023.3	-	25	2680	c.2575A>C	c.(2575-2577)Aag>Cag	p.K859Q	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K828Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K859Q|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K859Q	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	828					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.K828Q(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			tgcccttcctttggctccttc	0.597000													12	38					0	0	0.014323	0	0
ABCA1	19	broad.mit.edu	37	9	107618201	107618201	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:107618201G>C	ENST00000423487.2	-	8	1185	c.889C>G	c.(889-891)Cat>Gat	p.H297D	ABCA1_ENST00000374736.3_Intron			O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	0					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGGAGAAATGTTTCAAAATA	0.453000													4	45					0	0	0.001168	0	0
IPO11	51194	broad.mit.edu	37	5	61922992	61922992	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:61922992G>A	ENST00000325324.6	+	30	2944	c.2775G>A	c.(2773-2775)aaG>aaA	p.K925K	IPO11_ENST00000512177.1_3'UTR|IPO11_ENST00000409534.1_Silent_p.K44K|IPO11_ENST00000409296.3_Silent_p.K965K	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	925						cytoplasm|nucleus	protein binding	p.K925K(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TGGCCCTGAAGGACCCTGTTC	0.463000													21	37					0	0	0.004656	0	0
SPAG16	79582	broad.mit.edu	37	2	214794784	214794784	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:214794784G>T	ENST00000331683.5	+	12	1410	c.1315G>T	c.(1315-1317)Gtg>Ttg	p.V439L	SPAG16_ENST00000374309.3_Missense_Mutation_p.V345L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	439					cilium assembly	cilium axoneme|flagellar axoneme		p.V439L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAGCCGCGCAGTGTGGTCCTG	0.438000													14	105					2.31682e-05	2.5485e-05	0.003163	1	0
ABCB5	340273	broad.mit.edu	37	7	20782586	20782586	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:20782586C>A	ENST00000404938.2	+	25	3763	c.3111C>A	c.(3109-3111)tcC>tcA	p.S1037S	ABCB5_ENST00000258738.6_Silent_p.S592S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	592					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	p.S592S(1)|p.S1037S(1)		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						GTGGCTTATCCCTCAGTATTG	0.478000													14	92					1.3612e-06	1.5427e-06	0.003163	1	0
EMILIN1	11117	broad.mit.edu	37	2	27306318	27306318	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:27306318G>A	ENST00000380320.4	+	4	2378	c.1879G>A	c.(1879-1881)Gac>Aac	p.D627N		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	627					cell adhesion	collagen		p.D627N(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCCCCTGGACGGCTTCAG	0.662000													7	34					0	0	0.002450	0	0
C6	729	broad.mit.edu	37	5	41186284	41186284	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:41186284C>A	ENST00000263413.3	-	6	878	c.614G>T	c.(613-615)aGa>aTa	p.R205I	C6_ENST00000337836.5_Missense_Mutation_p.R205I|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	205	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R205I(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GACTTCTCCTCTGGGCTCTCC	0.368000													13	48					9.05144e-12	1.13981e-11	0.001855	1	0
GLB1L2	89944	broad.mit.edu	37	11	134217327	134217327	+	Splice_Site	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:134217327G>A	ENST00000535456.2	+	5	746	c.558_splice	c.e5+1	p.Q186_splice	GLB1L2_ENST00000339772.7_Splice_Site_p.Q186_splice|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Splice_Site_p.Q186_splice	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	186					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.Q186Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TGCCACTCCAGGTACAAGCAA	0.507000													19	283					0	0	0.007413	0	0
RAI1	10743	broad.mit.edu	37	17	17701269	17701269	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:17701269G>A	ENST00000353383.1	+	3	5476	c.5007G>A	c.(5005-5007)acG>acA	p.T1669T	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1669						cytoplasm|nucleus	zinc ion binding	p.T1669T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCTCCTCCACGATGCACTTGG	0.637000													11	79					0	0	0.013537	0	0
OR4C13	283092	broad.mit.edu	37	11	49974153	49974153	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:49974153T>C	ENST00000555099.1	+	1	211	c.179T>C	c.(178-180)tTc>tCc	p.F60S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F60S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTACTTTTTCCTGGCCTAT	0.428000													30	204					0	0	0.012213	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:20248603G>C	ENST00000315957.4	+	1	203	c.122G>C	c.(121-123)gGa>gCa	p.G41A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000													84	395					0	0	0.014410	0	0
USP4	7375	broad.mit.edu	37	3	49329950	49329950	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:49329950G>T	ENST00000351842.4	-	14	1832	c.1824C>A	c.(1822-1824)agC>agA	p.S608R	USP4_ENST00000265560.4_Missense_Mutation_p.S655R	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	655					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S655R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CACCTTCACAGCTGTTCCTGG	0.502000													7	7					5.18039e-06	5.8008e-06	0.003080	1	0
LPAL2	80350	broad.mit.edu	37	6	160905137	160905137	+	RNA	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:160905137G>A	ENST00000335388.5	-	0	990					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CGGGATAACAGTCAGAGGCAC	0.517000													35	68					0	0	0.006999	0	0
VPS26B	112936	broad.mit.edu	37	11	134095109	134095109	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:134095109C>T	ENST00000281187.5	+	1	571	c.93C>T	c.(91-93)gaC>gaT	p.D31D	VPS26B_ENST00000525095.2_Silent_p.D31D	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	31					protein transport|vacuolar transport	cytosol|retromer complex		p.D31D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGACGGAGGACGGGAAGAAGG	0.592000													19	101					0	0	0.008871	0	0
BSN	8927	broad.mit.edu	37	3	49692179	49692179	+	Silent	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:49692179C>G	ENST00000296452.4	+	5	5304	c.5190C>G	c.(5188-5190)acC>acG	p.T1730T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1730					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.T1730T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTACTGCCACCACCGTGAGCA	0.582000													111	191					0	0	0.014410	0	0
ZNF572	137209	broad.mit.edu	37	8	125987892	125987892	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:125987892G>C	ENST00000319286.5	+	2	164	c.10G>C	c.(10-12)Gaa>Caa	p.E4Q		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E4Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATGGAGCAAGAAAAAAAACT	0.398000										HNSCC(60;0.17)			18	101					0	0	0.007413	0	0
OR8H3	390152	broad.mit.edu	37	11	55890059	55890059	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:55890059G>T	ENST00000313472.3	+	1	211	c.211G>T	c.(211-213)Gac>Tac	p.D71Y		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D71Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTCATTTATTGACCTCAGTTA	0.438000													27	492					1.95512e-22	2.7593e-22	0.014410	1	0
KCNT2	343450	broad.mit.edu	37	1	196309547	196309547	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:196309547C>T	ENST00000367433.5	-	16	1808	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	KCNT2_ENST00000367431.4_Silent_p.Q519Q|KCNT2_ENST00000451324.2_Silent_p.Q180Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.Q569Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	569						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.Q569Q(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCTTTTTCTCTGCTGGTCTT	0.343000													18	71					0	0	0.007413	0	0
OGDHL	55753	broad.mit.edu	37	10	50964932	50964932	+	Silent	SNP	G	G	T	rs140510079		TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:50964932G>T	ENST00000374103.4	-	3	350	c.265C>A	c.(265-267)Cgg>Agg	p.R89R	OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	89					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R89R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GAAGGGGGCCGTGGCTGAGCA	0.597000													37	103					5.43694e-19	7.4484e-19	0.005524	1	0
ROBO3	64221	broad.mit.edu	37	11	124742335	124742335	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:124742335G>T	ENST00000397801.1	+	8	1409	c.1217G>T	c.(1216-1218)aGa>aTa	p.R406I	ROBO3_ENST00000538940.1_Missense_Mutation_p.R384I	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	406	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity	p.R406I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTGTCTCCAAGAGGCCAACTT	0.612000													46	78					2.27459e-33	3.33607e-33	0.014410	1	0
NOC4L	79050	broad.mit.edu	37	12	132636668	132636668	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:132636668G>T	ENST00000330579.1	+	14	1398	c.1357G>T	c.(1357-1359)Gcc>Tcc	p.A453S	NOC4L_ENST00000538784.1_Missense_Mutation_p.A68S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	453					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	p.A453S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GTCCAAAGCCGCCAGCGTCAT	0.692000													16	21					1.99824e-07	2.31375e-07	0.004990	1	0
RGS3	5998	broad.mit.edu	37	9	116269565	116269565	+	Splice_Site	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:116269565A>G	ENST00000374140.2	+	14	1294		c.e14-1		RGS3_ENST00000394646.3_Splice_Site|RGS3_ENST00000374136.1_Splice_Site|RGS3_ENST00000317613.6_Splice_Site|RGS3_ENST00000343817.5_Splice_Site|RGS3_ENST00000350696.5_Splice_Site	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.?(3)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCACCTTCCAGGAGCTGCCC	0.632000													8	28					0	0	0.004482	0	0
ANK2	287	broad.mit.edu	37	4	114279468	114279468	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:114279468G>C	ENST00000357077.4	+	38	9747	c.9694G>C	c.(9694-9696)Gat>Cat	p.D3232H	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D3199H|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3199					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.D3232H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAACGGGTGATATACCTCC	0.488000													39	122					0	0	0.006230	0	0
NXPE4	54827	broad.mit.edu	37	11	114441716	114441716	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:114441716G>T	ENST00000375478.3	-	6	1759	c.1579C>A	c.(1579-1581)Cca>Aca	p.P527T	NXPE4_ENST00000424261.2_Missense_Mutation_p.P243T	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.P527T(1)									TGTTGAGGTGGGTGTACATTA	0.299000													10	39					7.03913e-09	8.38418e-09	0.013537	1	0
TRIM48	79097	broad.mit.edu	37	11	55036743	55036743	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:55036743C>A	ENST00000417545.2	+	5	690	c.604C>A	c.(604-606)Ccc>Acc	p.P202T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	186						intracellular	zinc ion binding	p.P186T(1)|p.P202T(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTGCACATGCCCCAGCCTCT	0.502000													9	45					0.000274275	0.000291417	0.004482	1	0
RIMS1	22999	broad.mit.edu	37	6	72678738	72678738	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:72678738G>C	ENST00000264839.7	+	2	217	c.217G>C	c.(217-219)Gct>Cct	p.A73P	RIMS1_ENST00000491071.2_Missense_Mutation_p.A73P|RIMS1_ENST00000521978.1_Missense_Mutation_p.A73P|RIMS1_ENST00000522291.1_Missense_Mutation_p.A73P|RIMS1_ENST00000517960.1_Missense_Mutation_p.A73P|RIMS1_ENST00000518273.1_Missense_Mutation_p.A73P|RIMS1_ENST00000348717.5_Missense_Mutation_p.A73P|RIMS1_ENST00000520567.1_Missense_Mutation_p.A73P			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	73	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.A73P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACCAAGAAATGCTGAAAACCA	0.453000													5	69					0	0	0.006214	0	0
BAIAP3	8938	broad.mit.edu	37	16	1394115	1394115	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:1394115C>A	ENST00000324385.5	+	16	1742	c.1584C>A	c.(1582-1584)agC>agA	p.S528R	BAIAP3_ENST00000397488.2_Missense_Mutation_p.S510R|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S493R|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S465R|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S510R|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S470R|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S457R	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	528					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.S528R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACCAACAGCACCGCTGTCC	0.682000													7	33					7.03913e-09	8.38418e-09	0.013537	1	0
PLCB1	23236	broad.mit.edu	37	20	8769149	8769149	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr20:8769149G>A	ENST00000378641.3	+	28	3640	c.3165G>A	c.(3163-3165)aaG>aaA	p.K1055K	PLCB1_ENST00000378637.2_Silent_p.K1055K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.K1055K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1055					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.K1055K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCAGTTAAAGAAGCTCAAAG	0.363000													9	22					0	0	0.006214	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217805	36217805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:36217805C>A	ENST00000258840.6	-	10	1627	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E413*|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E413*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E413*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	413					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.E413*(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAAATATCTCTGTCACAAAG	0.323000													9	17					3.86212e-05	4.21117e-05	0.008291	1	0
TRIM29	23650	broad.mit.edu	37	11	119996524	119996524	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:119996524T>A	ENST00000341846.5	-	4	1629	c.1208A>T	c.(1207-1209)gAg>gTg	p.E403V	TRIM29_ENST00000541857.1_Missense_Mutation_p.E136V|TRIM29_ENST00000529044.1_Missense_Mutation_p.E142V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	403					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E403V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCCCAGGCCCTCCCCCTCCAG	0.532000													20	95					0	0	0.012319	0	0
VPS13A	23230	broad.mit.edu	37	9	79947017	79947017	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:79947017T>C	ENST00000360280.3	+	46	6343	c.6083T>C	c.(6082-6084)tTa>tCa	p.L2028S	VPS13A_ENST00000376636.3_Missense_Mutation_p.L1989S|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2028S|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2028S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2028					Golgi to endosome transport|protein transport	intracellular	protein binding	p.L2028S(3)		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						AACATACCATTAGGATCTTAC	0.338000													15	55					0	0	0.004007	0	0
SPINK5	11005	broad.mit.edu	37	5	147491409	147491409	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:147491409C>G	ENST00000359874.3	+	19	1844	c.1771C>G	c.(1771-1773)Cta>Gta	p.L591V	SPINK5_ENST00000256084.7_Missense_Mutation_p.L591V|SPINK5_ENST00000398454.1_Missense_Mutation_p.L591V	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	591	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.L591V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGAGGGTCTAGATGGGAA	0.512000													40	79					0	0	0.006999	0	0
RGPD4	285190	broad.mit.edu	37	2	108487260	108487260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:108487260G>T	ENST00000408999.3	+	20	2877	c.2800G>T	c.(2800-2802)Gaa>Taa	p.E934*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.E934*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	934					intracellular transport		binding	p.E934*(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGGAAATCAAGAAAAGGAAAG	0.413000													9	214					3.86212e-05	4.21117e-05	0.008291	1	0
ICOSLG	23308	broad.mit.edu	37	21	45655295	45655295	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:45655295T>C	ENST00000407780.3	-	4	684	c.557A>G	c.(556-558)aAt>aGt	p.N186S	ICOSLG_ENST00000400377.3_Missense_Mutation_p.N69S|ICOSLG_ENST00000400379.3_Missense_Mutation_p.N186S|ICOSLG_ENST00000344330.4_Missense_Mutation_p.N186S			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	186	Ig-like C2-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	p.N186S(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GACGGTGTCATTCTGCAGAGC	0.557000													4	55					0	0	0.009096	0	0
NCOA6	23054	broad.mit.edu	37	20	33330872	33330872	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr20:33330872G>A	ENST00000374796.2	-	12	5758	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1063L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1063	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.P1063L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGGAGTCGGGGTTCAGGGG	0.527000													78	211					0	0	0.014410	0	0
ARMC5	79798	broad.mit.edu	37	16	31476451	31476451	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:31476451A>T	ENST00000457010.2	+	4	2808	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C	ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000563544.1_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	0							binding	p.S703C(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCTAGATGCAGCCCCGCGCC	0.622000													20	70					0	0	0.010504	0	0
YIPF5	81555	broad.mit.edu	37	5	143541875	143541875	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:143541875G>A	ENST00000274496.5	-	5	652	c.518C>T	c.(517-519)aCa>aTa	p.T173I	YIPF5_ENST00000448443.2_Missense_Mutation_p.T173I|YIPF5_ENST00000513112.1_Missense_Mutation_p.T119I	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	173					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		p.T173I(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGAAACACCTGTCATACTCAT	0.393000													33	61					0	0	0.005524	0	0
DROSHA	29102	broad.mit.edu	37	5	31401639	31401639	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:31401639C>A	ENST00000511367.2	-	35	4269	c.4025G>T	c.(4024-4026)cGg>cTg	p.R1342L	DROSHA_ENST00000513349.1_Missense_Mutation_p.R1305L|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1305L|DROSHA_ENST00000344624.3_Missense_Mutation_p.R1342L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1342	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R1342L(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTCGATGAACCGCTTCTGATG	0.343000													13	122					0.00136819	0.00142934	0.013537	1	0
ZNF799	90576	broad.mit.edu	37	19	12502033	12502033	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:12502033G>A	ENST00000419318.1	-	4	1832	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.H393H			Q96GE5	ZN799_HUMAN	zinc finger protein 799	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H180H(1)|p.H393H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCTTGCATTTGTGAGGTCCAT	0.418000													59	101					0	0	0.014410	0	0
OR5B3	441608	broad.mit.edu	37	11	58169967	58169967	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:58169967C>A	ENST00000309403.2	-	1	915	c.916G>T	c.(916-918)Gca>Tca	p.A306S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A306S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACAATTTTGCCTTCTCAACA	0.413000													12	91					2.23348e-06	2.51603e-06	0.004007	1	0
PCDH9	5101	broad.mit.edu	37	13	67801090	67801090	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:67801090C>T	ENST00000544246.1	-	2	2174	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	PCDH9_ENST00000328454.5_Missense_Mutation_p.D495N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D495N|PCDH9_ENST00000377865.2_Missense_Mutation_p.D495N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D495N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	495	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D495N(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGTCTTCATCTGTGGCACTA	0.428000													14	111					0	0	0.002450	0	0
SV2A	9900	broad.mit.edu	37	1	149881043	149881043	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:149881043C>A	ENST00000369146.3	-	7	1750	c.1260G>T	c.(1258-1260)tgG>tgT	p.W420C	SV2A_ENST00000369145.1_Missense_Mutation_p.W420C	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	420					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.W420C(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCCGGACCCCCCAGCGCTGGT	0.562000													26	56					2.14196e-07	2.4725e-07	0.007291	1	0
JADE3	9767	broad.mit.edu	37	X	46913645	46913645	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrX:46913645G>T	ENST00000218343.4	+	9	1356	c.1058G>T	c.(1057-1059)gGa>gTa	p.G353V	PHF16_ENST00000397189.1_Missense_Mutation_p.G353V	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		353					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.G353V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTAGATGAGGGAGACGAAGTG	0.488000													7	12					0.000274275	0.000291417	0.004482	1	0
RFX4	5992	broad.mit.edu	37	12	107114570	107114570	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:107114570G>A	ENST00000392842.1	+	13	1681	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	RFX4_ENST00000357881.4_Missense_Mutation_p.V432M|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.V329M	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	423	Necessary for dimerization.			V -> E (in Ref. 4; BAC11288).	transcription, DNA-dependent	nucleus	DNA binding	p.V432M(1)|p.V423M(1)|p.V329M(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTTGAAGAAAGTGGCCCAGCA	0.507000													43	57					0	0	0.010771	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530631	5530631	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:5530631C>T	ENST00000311659.4	-	2	305	c.158G>A	c.(157-159)cGc>cAc	p.R53H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	53	Ubiquitin-like.							p.R53H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCTTAAAGCGCTGAGATAT	0.502000													60	117					0	0	0.014410	0	0
GPR12	2835	broad.mit.edu	37	13	27333929	27333929	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:27333929C>A	ENST00000405846.3	-	2	257	c.36G>T	c.(34-36)ctG>ctT	p.L12L	GPR12_ENST00000381436.2_Silent_p.L12L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	12						integral to plasma membrane		p.L12L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AATCCCGAGGCAGCCCGCTTA	0.502000													21	73					0.00332997	0.00345947	0.003330	1	0
GAR1	54433	broad.mit.edu	37	4	110739126	110739126	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:110739126C>G	ENST00000226796.6	+	3	513	c.249C>G	c.(247-249)gaC>gaG	p.D83E	GAR1_ENST00000394631.3_Missense_Mutation_p.D83E	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	83					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	p.D83E(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GTGAAGATGACATAGTTTGTA	0.343000													31	97					0	0	0.004289	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067109	46067109	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:46067109G>C	ENST00000334670.8	+	1	779	c.734G>C	c.(733-735)tGc>tCc	p.C245S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	239	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.C245S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CACCCCGTGTGCAGGTCCACC	0.682000													31	151					0	0	0.012213	0	0
MROH2B	133558	broad.mit.edu	37	5	41004585	41004585	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:41004585G>T	ENST00000399564.4	-	37	4507	c.4057C>A	c.(4057-4059)Ctg>Atg	p.L1353M	MROH2B_ENST00000506092.2_Missense_Mutation_p.L908M	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L1353M(1)									AGGTGATACAGGCCTCTGATG	0.408000													24	101					9.95505e-16	1.32028e-15	0.014323	1	0
CYYR1	116159	broad.mit.edu	37	21	27852651	27852651	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:27852651T>A	ENST00000299340.4	-	3	617	c.274A>T	c.(274-276)Agg>Tgg	p.R92W	CYYR1_ENST00000400043.3_Missense_Mutation_p.R92W|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	92						integral to membrane		p.R92W(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CGGGTCGCCCTGTGGTTCTTC	0.507000													25	101					0	0	0.002780	0	0
PDGFD	80310	broad.mit.edu	37	11	103814199	103814199	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:103814199G>A	ENST00000302251.5	-	5	1186	c.735C>T	c.(733-735)taC>taT	p.Y245Y	PDGFD_ENST00000393158.2_Silent_p.Y251Y	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	251					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	p.Y251Y(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCCGGTCATGGTATGACCTGC	0.418000													4	26					0	0	0.000602	0	0
GABRB2	2561	broad.mit.edu	37	5	160763740	160763740	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:160763740C>A	ENST00000274547.2	-	7	795	c.578G>T	c.(577-579)cGt>cTt	p.R193L	GABRB2_ENST00000517901.1_Missense_Mutation_p.R130L|GABRB2_ENST00000353437.6_Missense_Mutation_p.R193L|GABRB2_ENST00000393959.1_Missense_Mutation_p.R193L|GABRB2_ENST00000517547.1_Missense_Mutation_p.R33L|GABRB2_ENST00000520240.1_Missense_Mutation_p.R193L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	193					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.R193L(2)|p.R193H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCATCGCCACGCCAGTAAAA	0.353000													14	69					3.28513e-13	4.20766e-13	0.003954	1	0
MAST4	375449	broad.mit.edu	37	5	66406002	66406002	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:66406002G>T	ENST00000404260.3	+	11	1750	c.1442G>T	c.(1441-1443)cGc>cTc	p.R481L	MAST4_ENST00000403625.2_Missense_Mutation_p.R478L|MAST4_ENST00000261569.7_Missense_Mutation_p.R284L|MAST4_ENST00000403666.1_Missense_Mutation_p.R289L|MAST4_ENST00000490016.2_Missense_Mutation_p.R289L|MAST4_ENST00000405643.1_Missense_Mutation_p.R299L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	481						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R481L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTTATTGCCCGCCCTGCTCGG	0.393000													42	64					3.70713e-34	5.48011e-34	0.014410	1	0
GRM1	2911	broad.mit.edu	37	6	146720582	146720582	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:146720582C>T	ENST00000392299.2	+	8	2877	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	GRM1_ENST00000361719.2_Missense_Mutation_p.P803S|GRM1_ENST00000282753.1_Missense_Mutation_p.P803S|GRM1_ENST00000355289.4_Missense_Mutation_p.P803S|GRM1_ENST00000507907.1_Missense_Mutation_p.P803S|GRM1_ENST00000492807.2_Missense_Mutation_p.P803S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	803					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P803S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCTTTTGTGCCCATTTACTT	0.488000													32	70					0	0	0.013726	0	0
GTF3C5	9328	broad.mit.edu	37	9	135932240	135932240	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:135932240G>T	ENST00000372097.5	+	10	1661	c.1338G>T	c.(1336-1338)gaG>gaT	p.E446D	GTF3C5_ENST00000372108.5_Missense_Mutation_p.E453D|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E384D|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E437D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	446						transcription factor TFIIIC complex	DNA binding|protein binding	p.E446D(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CCAGCGACGAGCTCAGGGACA	0.607000													21	94					1.64293e-13	2.11154e-13	0.003330	1	0
ZNF263	10127	broad.mit.edu	37	16	3339736	3339736	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:3339736C>T	ENST00000219069.5	+	6	2106	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	ZNF263_ENST00000538765.1_Silent_p.D58D|ZNF263_ENST00000574253.1_3'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	410					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D410D(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGGGTGTGGACTGCACTGAAA	0.468000													41	118					0	0	0.007835	0	0
STXBP4	252983	broad.mit.edu	37	17	53237247	53237247	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:53237247G>C	ENST00000376352.2	+	18	1844	c.1637G>C	c.(1636-1638)aGa>aCa	p.R546T	STXBP4_ENST00000434978.2_Missense_Mutation_p.R524T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	546						cytoplasm	calcium ion binding	p.R546T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GATTGCTCTAGAGAACTCCCC	0.443000													4	53					0	0	0.001168	0	0
ABCG5	64240	broad.mit.edu	37	2	44065024	44065024	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:44065024C>T	ENST00000260645.1	-	2	353	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	72	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.V72I(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TACAAGGAGACATCTTTGAGG	0.527000													55	99					0	0	0.014410	0	0
AKAP9	10142	broad.mit.edu	37	7	91708472	91708472	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:91708472A>G	ENST00000359028.2	+	32	7286	c.7061A>G	c.(7060-7062)aAg>aGg	p.K2354R	AKAP9_ENST00000356239.3_Missense_Mutation_p.K2342R|AKAP9_ENST00000358100.2_Missense_Mutation_p.K2354R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2354	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.K2342R(1)|p.K2354R(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATGTGTGAAGAGAAATAGA	0.318000			T	BRAF	papillary thyroid								131	46					0	0	0.014410	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290768	20290768	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:20290768C>A	ENST00000377252.3	+	2	1018	c.177C>A	c.(175-177)caC>caA	p.H59Q	PLXDC2_ENST00000377242.3_Missense_Mutation_p.H59Q	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	59						integral to membrane		p.H59H(1)|p.H59Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTGATTCACACGCGTACAGCC	0.498000													7	55					0.000157383	0.000169142	0.003080	1	0
PRPF3	9129	broad.mit.edu	37	1	150321643	150321643	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:150321643G>T	ENST00000324862.6	+	15	2019	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	PRPF3_ENST00000414970.2_Missense_Mutation_p.E569D|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	618					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	p.E618D(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ATGATGAGGAGTCTGATGAGG	0.358000													46	210					7.36392e-32	1.07164e-31	0.014410	1	0
OR6K6	128371	broad.mit.edu	37	1	158725087	158725087	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:158725087C>A	ENST00000368144.2	+	1	578	c.482C>A	c.(481-483)cCa>cAa	p.P161Q		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P161Q(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTCCGTTACCCAACCATCATG	0.463000													28	108					1.39806e-14	1.82823e-14	0.008361	1	0
CD177	57126	broad.mit.edu	37	19	43866423	43866423	+	RNA	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:43866423T>C	ENST00000378009.4	+	0	1426				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GGGGTGGGGCTGGCACTGGCC	0.617000													3	30					0	0	0.013537	0	0
OTOGL	283310	broad.mit.edu	37	12	80752460	80752460	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:80752460C>G	ENST00000458043.2	+	50	6110	c.6104C>G	c.(6103-6105)cCa>cGa	p.P2035R	OTOGL_ENST00000547103.1_Missense_Mutation_p.P2023R|OTOGL_ENST00000546620.1_Missense_Mutation_p.P54R	NM_173591.3	NP_775862.3			otogelin-like									p.P2035R(1)|p.P400R(1)|p.P478A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTATGTGAACCAAACCTTTGT	0.353000													4	11					0	0	0.001168	0	0
TAF4B	6875	broad.mit.edu	37	18	23873416	23873416	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr18:23873416C>T	ENST00000269142.5	+	9	2751	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	TAF4B_ENST00000400466.2_Missense_Mutation_p.P585S|TAF4B_ENST00000578121.1_Missense_Mutation_p.P590S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	585					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	p.P585S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AATTACTCTGCCTGGAAATAA	0.303000													5	14					0	0	0.001168	0	0
PLAT	5327	broad.mit.edu	37	8	42036484	42036484	+	Silent	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:42036484G>T	ENST00000220809.4	-	13	1717	c.1461C>A	c.(1459-1461)acC>acA	p.T487T	PLAT_ENST00000429089.2_Silent_p.T487T|PLAT_ENST00000352041.3_Silent_p.T441T|PLAT_ENST00000524009.1_Silent_p.T398T|PLAT_ENST00000519510.1_Silent_p.T424T|PLAT_ENST00000429710.2_Silent_p.T361T|PLAT_ENST00000270189.6_3'UTR	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	487	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.T487T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCATGTTGTCGGTGACTGTTC	0.582000													25	156					7.26314e-15	9.53128e-15	0.007291	1	0
GBA3	57733	broad.mit.edu	37	4	22729380	22729380	+	RNA	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:22729380T>A	ENST00000511446.1	+	0	61				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCGTAATCTGTCATAATCCTC	0.393000													12	174					0	0	0.010729	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744152	31744152	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:31744152A>T	ENST00000399889.2	-	1	405	c.380T>A	c.(379-381)gTc>gAc	p.V127D		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	127						intermediate filament		p.V127D(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGGGATCTGACACCACTGGA	0.582000													6	51					0	0	0.003080	0	0
MTUS2	23281	broad.mit.edu	37	13	29598882	29598882	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:29598882G>A	ENST00000431530.3	+	1	135	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	16						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R26Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACTCAGTTGCGGGACAACAGA	0.458000													24	55					0	0	0.004656	0	0
MYH4	4622	broad.mit.edu	37	17	10358324	10358324	+	Missense_Mutation	SNP	G	G	A	rs143572602	byFrequency	TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:10358324G>A	ENST00000255381.2	-	21	2479	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	790	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T790M(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGAGTGCGCGTGATGAGTTG	0.458000													25	31					0	0	0.004656	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757685	106757685	+	RNA	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:106757685G>T	ENST00000390611.2	-	0	345																											GTGTCCACAGGGTCCATGTTG	0.522000													59	179					9.59835e-30	1.39139e-29	0.014410	1	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290699	31290699	+	RNA	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:31290699G>A	ENST00000554665.1	-	0	208																											TGCTACTCCAGACACAAAGCT	0.507000													6	34					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103481273	103481273	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:103481273G>T	ENST00000358392.2	-	12	1792	c.1475C>A	c.(1474-1476)cCa>cAa	p.P492Q	COL11A1_ENST00000370096.3_Missense_Mutation_p.P480Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P364Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P441Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	480	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P480Q(1)|p.P492Q(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCAGCCCCTGGTAAGCCAGG	0.348000													5	6					2.0095e-06	2.27055e-06	0.001984	1	0
MYOCD	93649	broad.mit.edu	37	17	12639576	12639576	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:12639576C>A	ENST00000425538.1	+	6	714	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	MYOCD_ENST00000395988.1_Missense_Mutation_p.P76T|MYOCD_ENST00000343344.4_Missense_Mutation_p.P172T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	172	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P172T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGTGAAGACCCCCAAAACTC	0.512000													56	121					5.12918e-33	7.49341e-33	0.014410	1	0
TCL6	27004	broad.mit.edu	37	14	96137713	96137713	+	RNA	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:96137713C>T	ENST00000467865.1	+	0	2070				RP11-1070N10.6_ENST00000461160.1_RNA														p.P89L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tctcattcgcctctggatctg	0.478000			T	TRA@	T-ALL								6	46					0	0	0.001984	0	0
NPY5R	4889	broad.mit.edu	37	4	164271983	164271983	+	Silent	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:164271983A>T	ENST00000515560.1	+	4	2080	c.558A>T	c.(556-558)acA>acT	p.T186T	NPY5R_ENST00000338566.3_Silent_p.T186T|NPY5R_ENST00000506953.1_Silent_p.T186T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	186					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.T186T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTCAAGAAACATTTGGTTCAG	0.418000													87	243					0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21775402	21775402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:21775402G>T	ENST00000328843.6	+	47	7637	c.7606G>T	c.(7606-7608)Gag>Tag	p.E2536*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.E2529*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2536	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2536*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGTCTCTCTGAGGATTACAT	0.423000									Kartagener syndrome				18	90					8.10497e-08	9.44318e-08	0.010504	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76528859	76528859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:76528859C>A	ENST00000307431.8	+	15	2515	c.2130C>A	c.(2128-2130)taC>taA	p.Y710*	CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Y714*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Y662*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Y638*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	711	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Y638*(1)|p.Y710*(1)|p.Y686*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGCAAACCTACTGGGGAGGTT	0.428000													26	45					5.60225e-13	7.15099e-13	0.009535	1	0
GRIA4	2893	broad.mit.edu	37	11	105732855	105732855	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:105732855T>C	ENST00000393127.2	+	5	1039	c.593T>C	c.(592-594)cTa>cCa	p.L198P	GRIA4_ENST00000282499.5_Missense_Mutation_p.L198P|GRIA4_ENST00000525187.1_Missense_Mutation_p.L198P|GRIA4_ENST00000530497.1_Missense_Mutation_p.L198P|GRIA4_ENST00000428631.2_Missense_Mutation_p.L198P|GRIA4_ENST00000393125.2_Missense_Mutation_p.L198P	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	198					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.L198P(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGGCAACTTCTAGAAGAACTT	0.353000													24	60					0	0	0.003330	0	0
DCHS2	54798	broad.mit.edu	37	4	155180838	155180838	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:155180838T>A	ENST00000357232.3	-	20	5282	c.5283A>T	c.(5281-5283)ttA>ttT	p.L1761F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1761	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L1761F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TACTTTCAGCTAAAACGATGA	0.368000													36	121					0	0	0.003271	0	0
AGAP11	119385	broad.mit.edu	37	10	88769446	88769446	+	RNA	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:88769446G>A	ENST00000444431.1	+	0	4046				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GTGAGGAGGTGAACGAGACCT	0.677000													47	90					0	0	0.014410	0	0
GSC2	2928	broad.mit.edu	37	22	19136549	19136549	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr22:19136549C>T	ENST00000086933.2	-	3	572	c.573G>A	c.(571-573)gcG>gcA	p.A191A		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	191					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A191A(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					GCAGGAGCCTCGCGGAAGCCG	0.647000													4	8					0	0	0.001168	0	0
AQR	9716	broad.mit.edu	37	15	35240533	35240533	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:35240533T>C	ENST00000156471.5	-	5	487	c.262A>G	c.(262-264)Aag>Gag	p.K88E		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	88						catalytic step 2 spliceosome	RNA binding	p.K88E(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAATAGGCCTTGCTAGATACC	0.363000													57	98					0	0	0.014410	0	0
TMEM214	54867	broad.mit.edu	37	2	27259358	27259358	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:27259358C>G	ENST00000238788.9	+	6	786	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V	TMEM214_ENST00000404032.3_Missense_Mutation_p.L197V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	242						integral to membrane	protein binding	p.L242V(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCCTCAGTTCCTGGAACTGCT	0.582000													71	139					0	0	0.014410	0	0
FAM180A	389558	broad.mit.edu	37	7	135418863	135418863	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:135418863G>A	ENST00000338588.3	-	3	647	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	FAM180A_ENST00000415751.1_Silent_p.L128L	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	128						extracellular region		p.L128L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GCCAGGGTCAGCACTGTCCTT	0.612000													19	93					0	0	0.006122	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188210	32188210	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:32188210G>T	ENST00000375023.3	-	6	1269	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	377	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.F377L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGCAGGAGAAAGAGCCCA	0.607000													87	141					9.24773e-40	1.38346e-39	0.014410	1	0
RNPEP	6051	broad.mit.edu	37	1	201969089	201969089	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:201969089G>T	ENST00000295640.4	+	6	1193	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.D345Y	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	384					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	p.D384Y(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCAGCACATGGACATCACTGG	0.577000											OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	49					1.61879e-10	1.99154e-10	0.013537	1	0
KDM5D	8284	broad.mit.edu	37	Y	21869168	21869168	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrY:21869168C>T	ENST00000541639.1	-	25	4244	c.3957G>A	c.(3955-3957)gtG>gtA	p.V1319V	KDM5D_ENST00000382806.2_Silent_p.V1231V|KDM5D_ENST00000317961.4_Silent_p.V1288V	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1288					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.V1288V(1)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	ACAGAGCAGTCACATCTTCAG	0.607000													3	8					0	0	0.009096	0	0
COX18	285521	broad.mit.edu	37	4	73931122	73931122	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:73931122T>A	ENST00000295890.4	-	3	534	c.443A>T	c.(442-444)tAt>tTt	p.Y148F	COX18_ENST00000507544.2_Missense_Mutation_p.Y148F	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	148					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity	p.Y148F(1)		large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTCTTTAGATAAGTGAGCCT	0.423000													29	99					0	0	0.009535	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390540	52390540	+	RNA	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:52390540C>A	ENST00000443374.1	+	0	1233																											CTGAAACACTCCTGATCGTAA	0.443000													17	29					1.37285e-15	1.8143e-15	0.004007	1	0
ACTN1	87	broad.mit.edu	37	14	69347641	69347641	+	Silent	SNP	C	C	T	rs139138798	byFrequency	TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:69347641C>T	ENST00000193403.6	-	17	2402	c.2019G>A	c.(2017-2019)caG>caA	p.Q673Q	ACTN1_ENST00000538545.2_Silent_p.Q673Q|ACTN1_ENST00000394419.4_Silent_p.Q673Q|ACTN1_ENST00000438964.2_Silent_p.Q673Q|ACTN1_ENST00000376839.3_Silent_p.Q608Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	673	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.Q673Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTTCTCATACTGCCGCAGGT	0.567000													15	117					0	0	0.006122	0	0
INSL6	11172	broad.mit.edu	37	9	5185499	5185499	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:5185499C>A	ENST00000381641.3	-	1	169	c.104G>T	c.(103-105)aGg>aTg	p.R35M		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	35						extracellular region	hormone activity	p.R35M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CACCAAGTACCTGCCGCACAG	0.567000													28	57					4.22769e-11	5.23562e-11	0.006320	1	0
PROS1	5627	broad.mit.edu	37	3	93593251	93593251	+	Splice_Site	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:93593251T>A	ENST00000394236.3	-	15	2187		c.e15-2		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATGGAACATCTGTAAAAGGAA	0.363000													12	27					0	0	0.003163	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26235526	26235526	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:26235526C>G	ENST00000354667.4	-	8	866	c.698G>C	c.(697-699)gGa>gCa	p.G233A	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G221A	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	233	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.G233A(1)|p.G221A(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACTGCCATATCCATCTGTTAG	0.388000			T	ETV1	prostate								6	44					0	0	0.006214	0	0
ASTN1	460	broad.mit.edu	37	1	176837984	176837984	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:176837984G>T	ENST00000367654.2	-	22	3680	c.3667C>A	c.(3667-3669)Ccc>Acc	p.P1223T	ASTN1_ENST00000424564.2_Missense_Mutation_p.P1215T|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1215T|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1215T			O14525	ASTN1_HUMAN	astrotactin 1	1223					cell migration|neuron cell-cell adhesion	integral to membrane		p.P1215T(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATTACCTGGGACCTAACTCA	0.443000													20	98					1.96292e-10	2.39131e-10	0.010504	1	0
C5orf42	65250	broad.mit.edu	37	5	37183222	37183222	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:37183222T>A	ENST00000274258.7	-	26	5291	c.1704A>T	c.(1702-1704)aaA>aaT	p.K568N	C5orf42_ENST00000425232.2_Missense_Mutation_p.K1687N|C5orf42_ENST00000508244.1_Missense_Mutation_p.K1687N			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1687								p.K1687N(1)|p.K568N(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CATCTTGTATTTTGTAAATTG	0.318000													6	77					0	0	0.001168	0	0
APPL2	55198	broad.mit.edu	37	12	105589110	105589110	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:105589110C>G	ENST00000258530.3	-	14	1395	c.1170G>C	c.(1168-1170)ttG>ttC	p.L390F	APPL2_ENST00000551662.1_Missense_Mutation_p.L396F|APPL2_ENST00000539978.2_Missense_Mutation_p.L347F	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	390	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.L390F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CGGTCTGATTCAACTTGATCG	0.473000													24	36					0	0	0.006320	0	0
CCDC61	729440	broad.mit.edu	37	19	46506741	46506741	+	Silent	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:46506741G>T	ENST00000263284.2	+	4	384	c.384G>T	c.(382-384)ctG>ctT	p.L128L	CCDC61_ENST00000536603.1_Silent_p.L71L|CCDC61_ENST00000595358.1_Silent_p.L71L|CCDC61_ENST00000594087.1_Silent_p.L71L					coiled-coil domain containing 61									p.L128L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GTCATATGCTGGAGTCAGCCC	0.542000													4	13					0.000157383	0.000169142	0.003080	1	0
IRS4	8471	broad.mit.edu	37	X	107977956	107977956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrX:107977956G>T	ENST00000372129.2	-	1	1695	c.1619C>A	c.(1618-1620)tCa>tAa	p.S540*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	540						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.S540*(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTCCTCCTGAGCCCTGGCC	0.627000													79	98					1.68737e-39	2.51424e-39	0.014410	1	0
KRT14	3861	broad.mit.edu	37	17	39742587	39742587	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:39742587T>C	ENST00000167586.6	-	1	586	c.500A>G	c.(499-501)aAg>aGg	p.K167R		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	167	Linker 1.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.K167R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CTCAATGGTCTTGAAGTAGGG	0.572000													75	203					0	0	0.014410	0	0
NALCN	259232	broad.mit.edu	37	13	101936320	101936320	+	Silent	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:101936320G>C	ENST00000251127.6	-	10	1179	c.1098C>G	c.(1096-1098)gtC>gtG	p.V366V	NALCN_ENST00000376196.3_Silent_p.V366V|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	366						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.V366V(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGGCTTGTTGACATCCACAG	0.458000													9	31					0	0	0.010729	0	0
MOCS3	27304	broad.mit.edu	37	20	49575710	49575710	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr20:49575710C>G	ENST00000244051.1	+	1	348	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	111					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L111V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CCGCCTTGGCCTTGTGGACTA	0.687000													27	134					0	0	0.010818	0	0
SATB2	23314	broad.mit.edu	37	2	200173488	200173488	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:200173488C>A	ENST00000443023.1	-	9	3023	c.1558G>T	c.(1558-1560)Gtg>Ttg	p.V520L	SATB2_ENST00000457245.1_Missense_Mutation_p.V579L|SATB2_ENST00000417098.1_Missense_Mutation_p.V579L|SATB2_ENST00000428695.1_Missense_Mutation_p.V461L|SATB2_ENST00000260926.5_Missense_Mutation_p.V579L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	579						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.V579L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGACCTGCACCGGCTCAGGG	0.602000													21	55					1.50039e-11	1.88304e-11	0.012319	1	0
PYGM	5837	broad.mit.edu	37	11	64519396	64519396	+	Splice_Site	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:64519396G>T	ENST00000164139.3	-	14	2166	c.1768_splice	c.e14+1	p.R590_splice	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Splice_Site_p.R502_splice	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	590					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.R590S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGCCACTCACGGTTGTACAGG	0.527000													7	29					3.09899e-07	3.55528e-07	0.004482	1	0
CACNA1C	775	broad.mit.edu	37	12	2788840	2788840	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:2788840C>A	ENST00000399655.1	+	42	5587	c.5322C>A	c.(5320-5322)gcC>gcA	p.A1774A	CACNA1C_ENST00000347598.4_Silent_p.A1822A|CACNA1C_ENST00000399595.1_Silent_p.A1782A|CACNA1C_ENST00000406454.3_Silent_p.A1774A|CACNA1C_ENST00000402845.3_Silent_p.A1793A|CACNA1C_ENST00000344100.3_Silent_p.A1815A|CACNA1C_ENST00000399601.1_Silent_p.A1774A|CACNA1C_ENST00000335762.5_Silent_p.A1799A|CACNA1C_ENST00000399591.1_Silent_p.A1782A|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Silent_p.A1774A|CACNA1C_ENST00000399606.1_Silent_p.A1794A|CACNA1C_ENST00000399637.1_Silent_p.A1793A|CACNA1C_ENST00000399597.1_Silent_p.A1774A|CACNA1C_ENST00000399641.1_Silent_p.A1774A|CACNA1C_ENST00000399634.1_Silent_p.A1774A|CACNA1C_ENST00000399638.1_Silent_p.A1802A|CACNA1C_ENST00000399649.1_Silent_p.A1780A|CACNA1C_ENST00000399617.1_Silent_p.A1774A|CACNA1C_ENST00000399621.1_Silent_p.A1793A|CACNA1C_ENST00000399644.1_Silent_p.A1774A|CACNA1C_ENST00000399629.1_Silent_p.A1791A|CACNA1C_ENST00000327702.7_Silent_p.A1774A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1822					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.A1309A(1)|p.A1815A(1)|p.A1822A(1)|p.A1852A(1)|p.A1774A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACAACACCGCCCTGGGTCGCC	0.682000													8	13					0.000442599	0.00046893	0.006214	1	0
SCN2A	6326	broad.mit.edu	37	2	166245810	166245810	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:166245810G>T	ENST00000375437.2	+	27	5784	c.5494G>T	c.(5494-5496)Gca>Tca	p.A1832S	SCN2A_ENST00000283256.6_Missense_Mutation_p.A1832S|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1832S|SCN2A_ENST00000357398.3_Missense_Mutation_p.A1832S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1832					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1832S(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCTTCTCATAGCAAAACCCAA	0.463000													55	89					1.20869e-33	1.77973e-33	0.014410	1	0
NDN	4692	broad.mit.edu	37	15	23931842	23931842	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:23931842C>G	ENST00000331837.4	-	1	608	c.523G>C	c.(523-525)Gag>Cag	p.E175Q		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	175	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.E175Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGTCCAGCTCCTCGGGCTCC	0.652000									Prader-Willi syndrome				13	18					0	0	0.003163	0	0
C5orf42	65250	broad.mit.edu	37	5	37107805	37107805	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:37107805T>G	ENST00000274258.7	-	52	9774	c.6187A>C	c.(6187-6189)Act>Cct	p.T2063P	C5orf42_ENST00000425232.2_Missense_Mutation_p.T3165P|C5orf42_ENST00000508244.1_Missense_Mutation_p.T3165P			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3165								p.T2063P(1)|p.T3165P(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGCTGCCAGTGCTCTCAGAC	0.552000													19	21					0	0	0.010504	0	0
CYLC2	1539	broad.mit.edu	37	9	105767708	105767708	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:105767708G>C	ENST00000374798.3	+	5	865	c.795G>C	c.(793-795)aaG>aaC	p.K265N	CYLC2_ENST00000487798.1_Missense_Mutation_p.K265N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	265	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.K265N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGATGCAAAGGAGATTAAAA	0.383000													6	39					0	0	0.001984	0	0
ERBB2	2064	broad.mit.edu	37	17	37868201	37868201	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:37868201G>A	ENST00000406381.2	+	10	1342	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	ERBB2_ENST00000540042.1_Missense_Mutation_p.V278M|ERBB2_ENST00000578199.1_Missense_Mutation_p.V278M|ERBB2_ENST00000269571.5_Missense_Mutation_p.V308M|ERBB2_ENST00000540147.1_Missense_Mutation_p.V278M|ERBB2_ENST00000541774.1_Missense_Mutation_p.V293M|ERBB2_ENST00000584450.1_Missense_Mutation_p.V308M|ERBB2_ENST00000445658.2_Missense_Mutation_p.V32M|ERBB2_ENST00000584601.1_Missense_Mutation_p.V278M	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	308					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V308M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TTCTACGGACGTGGGATCCTG	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			37	573					0	0	0.006999	0	0
MYH6	4624	broad.mit.edu	37	14	23858607	23858607	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:23858607C>T	ENST00000405093.3	-	28	4043	c.3973G>A	c.(3973-3975)Ggc>Agc	p.G1325S	MYH6_ENST00000356287.3_Missense_Mutation_p.G1325S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1325					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G1325S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCACCTTGCCCTCCTCCTCC	0.592000													33	133					0	0	0.006999	0	0
LAMC1	3915	broad.mit.edu	37	1	183099666	183099666	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:183099666A>C	ENST00000258341.4	+	19	3725	c.3468A>C	c.(3466-3468)aaA>aaC	p.K1156N		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1156	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.K1156N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAAGCAAAAGTCGCTGCTG	0.517000													11	48					0	0	0.013537	0	0
ZNF624	57547	broad.mit.edu	37	17	16527049	16527049	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:16527049C>T	ENST00000311331.7	-	6	1242	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G384E(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGGTTTCTCTCCAGTTTGAAT	0.393000													37	79					0	0	0.005524	0	0
ACSS3	79611	broad.mit.edu	37	12	81545819	81545819	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:81545819C>A	ENST00000548058.1	+	7	1952	c.1042C>A	c.(1042-1044)Cat>Aat	p.H348N	ACSS3_ENST00000548324.1_Missense_Mutation_p.H30N|ACSS3_ENST00000261206.3_Missense_Mutation_p.H347N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	348						mitochondrion	acetate-CoA ligase activity|ATP binding	p.H348N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGTTGTTGGACATTCCTATAT	0.303000													28	40					6.29468e-14	8.17435e-14	0.004878	1	0
CACNA1C	775	broad.mit.edu	37	12	2666138	2666138	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:2666138G>T	ENST00000399655.1	+	11	1768	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	CACNA1C_ENST00000347598.4_Missense_Mutation_p.K501N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K526N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K501N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	501					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.K501N(3)|p.K36N(1)|p.K531N(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAAGTCAAAGTTCAGGTGAG	0.493000													35	69					6.57855e-14	8.51341e-14	0.009718	1	0
NFATC4	4776	broad.mit.edu	37	14	24839463	24839463	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:24839463C>A	ENST00000413692.2	+	3	1192	c.1048C>A	c.(1048-1050)Cgt>Agt	p.R350S	NFATC4_ENST00000554344.1_Missense_Mutation_p.R217S|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300S|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350S|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300S|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275S|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217S|NFATC4_ENST00000250373.4_Missense_Mutation_p.R287S|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287S|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319S|NFATC4_ENST00000553469.1_Missense_Mutation_p.R319S|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217S|NFATC4_ENST00000555453.1_Missense_Mutation_p.R275S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217S|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300S|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319S|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287S|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	287					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R350S(1)|p.R287S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTGTCCCGCCGTGGCAGCCT	0.701000													10	22					0.000219431	0.000234478	0.002450	1	0
NDNF	79625	broad.mit.edu	37	4	121961148	121961148	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:121961148C>A	ENST00000379692.4	-	3	776	c.250G>T	c.(250-252)Gcg>Tcg	p.A84S		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	84								p.A84S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCCAAAGGCGCATCACAGGGC	0.517000													28	89					7.01153e-11	8.6545e-11	0.007291	1	0
CYB5R4	51167	broad.mit.edu	37	6	84650320	84650320	+	Splice_Site	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:84650320G>T	ENST00000369681.4	+	14	1486	c.1346_splice	c.e14+1	p.R449_splice	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	449					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	p.R449I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AAAGATAAAAGGTATTAAACT	0.333000													11	11					0.000978159	0.00102762	0.010729	1	0
VNN3	55350	broad.mit.edu	37	6	133044935	133044935	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:133044935G>T	ENST00000207771.3	-	7	1384	c.1312C>A	c.(1312-1314)Cgt>Agt	p.R438S	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR					vanin 3									p.R438S(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAAACATAACGCGTTCCAAAT	0.468000													13	20					2.61681e-11	3.2623e-11	0.002450	1	0
TOX	9760	broad.mit.edu	37	8	59851894	59851894	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:59851894C>A	ENST00000361421.1	-	3	598	c.378G>T	c.(376-378)caG>caT	p.Q126H		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	126						nucleus	DNA binding	p.Q126H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTGTTCCATCCTGGCCCAGCA	0.468000													19	102					4.96729e-08	5.82372e-08	0.008871	1	0
DMD	1756	broad.mit.edu	37	X	32827695	32827695	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrX:32827695G>A	ENST00000357033.4	-	7	770	c.564C>T	c.(562-564)tgC>tgT	p.C188C	DMD_ENST00000288447.4_Silent_p.C180C|DMD_ENST00000378677.2_Silent_p.C184C	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	188	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.C188C(1)|p.C184C(1)|p.C183C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGACTGCTGGCAAACCACAC	0.398000													16	21					0	0	0.008871	0	0
TM6SF1	53346	broad.mit.edu	37	15	83791516	83791516	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:83791516T>A	ENST00000322019.9	+	6	763	c.489T>A	c.(487-489)taT>taA	p.Y163*	TM6SF1_ENST00000565774.1_Nonsense_Mutation_p.Y163*|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Nonsense_Mutation_p.Y166*			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	163						integral to membrane		p.Y163*(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TAGGGAAGTATGGAACACGAA	0.353000													18	36					0	0	0.010504	0	0
DZIP3	9666	broad.mit.edu	37	3	108353817	108353817	+	Nonsense_Mutation	SNP	C	C	T	rs151046961	by1000genomes	TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:108353817C>T	ENST00000361582.3	+	10	1146	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q306*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	306					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q306*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGAAAATGATCAGGTATTATA	0.343000													7	15					0	0	0.001984	0	0
GMPPA	29926	broad.mit.edu	37	2	220371440	220371440	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:220371440G>C	ENST00000358215.3	+	13	1552	c.1183G>C	c.(1183-1185)Gcc>Ccc	p.A395P	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.A395P|GMPPA_ENST00000373908.1_Missense_Mutation_p.A395P|GMPPA_ENST00000373917.3_Missense_Mutation_p.A448P|GMPPA_ENST00000313597.5_Missense_Mutation_p.A395P	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	395					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	p.A395P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCGGATCCCTGCCGAGGTGCT	0.637000													16	29					0	0	0.006122	0	0
PKHD1	5314	broad.mit.edu	37	6	51921691	51921691	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:51921691A>T	ENST00000371117.3	-	17	1874	c.1599T>A	c.(1597-1599)caT>caA	p.H533Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.H533Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	533					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.H533Q(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCCCACCAGATGGGCTGTGG	0.448000													22	37					0	0	0.012319	0	0
OR2T3	343173	broad.mit.edu	37	1	248637546	248637546	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:248637546A>C	ENST00000359594.2	+	1	920	c.895A>C	c.(895-897)Aac>Cac	p.N299H		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N299H(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTCTCCGCAACAAAGATGT	0.488000													54	327					0	0	0.014410	0	0
ATP12A	479	broad.mit.edu	37	13	25265298	25265298	+	Silent	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:25265298G>T	ENST00000218548.6	+	8	1329	c.996G>T	c.(994-996)gtG>gtT	p.V332V	ATP12A_ENST00000381946.3_Silent_p.V326V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	326					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V326V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCATCGCTGTGTCCCTGAAGT	0.517000													15	43					4.14922e-12	5.24259e-12	0.004007	1	0
KNTC1	9735	broad.mit.edu	37	12	123089424	123089424	+	Splice_Site	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:123089424G>T	ENST00000333479.7	+	50	5353	c.5175_splice	c.e50-1	p.D1726_splice	KNTC1_ENST00000537348.1_Splice_Site_p.D151_splice|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1726					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.D1726Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGTTTAAAAGGACGAAAAACG	0.448000													6	11					5.9392e-07	6.77214e-07	0.001168	1	0
KLHL4	56062	broad.mit.edu	37	X	86868947	86868947	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrX:86868947C>A	ENST00000373119.4	+	2	635	c.490C>A	c.(490-492)Cac>Aac	p.H164N	KLHL4_ENST00000373114.4_Missense_Mutation_p.H164N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	164						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.H164N(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGTTATAAACCACGCAGAGCA	0.423000													29	22					4.22769e-11	5.23562e-11	0.006320	1	0
PDPR	55066	broad.mit.edu	37	16	70172802	70172802	+	Splice_Site	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:70172802G>T	ENST00000288050.4	+	11	2148	c.1190_splice	c.e11-1	p.K397_splice	PDPR_ENST00000568530.1_Splice_Site_p.K397_splice|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Splice_Site_p.K297_splice	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	397					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.K397N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GTCTATATAGGTACCTTGCCG	0.443000													10	90					1.5842e-08	1.86906e-08	0.001855	1	0
FLJ33360	401172	broad.mit.edu	37	5	6337389	6337389	+	RNA	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:6337389T>A	ENST00000507444.1	-	0	16					NR_028351.1																						AGAGAGCACCTCAGCAGGTGC	0.552000													29	40					0	0	0.006320	0	0
TBC1D31	93594	broad.mit.edu	37	8	124138862	124138862	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:124138862G>A	ENST00000287380.1	+	13	1909	c.1819G>A	c.(1819-1821)Gtt>Att	p.V607I	TBC1D31_ENST00000522420.1_Missense_Mutation_p.V502I|TBC1D31_ENST00000378080.2_Missense_Mutation_p.V502I|TBC1D31_ENST00000518805.1_Missense_Mutation_p.V240I|TBC1D31_ENST00000327098.5_Missense_Mutation_p.V607I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.V484I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.V607I	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.V607I(1)									TCTGATGACTGTTGTAGCCTA	0.408000													18	114					0	0	0.007413	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626819	43626819	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:43626819C>T	ENST00000332857.6	-	4	1896	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.R623Q(1)									TGATTCGTCCCGAAGCTGCAT	0.547000													10	65					0	0	0.008871	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860849	96860849	+	Silent	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:96860849A>T	ENST00000375360.3	+	7	2179	c.1839A>T	c.(1837-1839)gtA>gtT	p.V613V	PTPDC1_ENST00000288976.3_Silent_p.V665V	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	613							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V613V(1)|p.V665V(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGGAAGGTAGAAATGTGGC	0.343000													16	54					0	0	0.007413	0	0
FMN2	56776	broad.mit.edu	37	1	240255649	240255649	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:240255649C>G	ENST00000319653.9	+	1	470	c.240C>G	c.(238-240)atC>atG	p.I80M		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	80					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.I223M(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCTGCGGATCAGGAAGAATC	0.667000													7	13					0	0	0.004482	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47122386	47122386	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:47122386C>G	ENST00000290341.3	+	12	1688	c.1354C>G	c.(1354-1356)Cgt>Ggt	p.R452G	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R313G	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	452	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.R452G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCCAAAGTTCGTATGGTTAT	0.468000													96	235					0	0	0.014410	0	0
OR2T8	343172	broad.mit.edu	37	1	248084397	248084397	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:248084397C>A	ENST00000319968.4	+	1	78	c.78C>A	c.(76-78)ttC>ttA	p.F26L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGTCCTCTTCATGATGGTTC	0.468000													48	136					4.64219e-42	7.00073e-42	0.014410	1	0
SENP7	57337	broad.mit.edu	37	3	101080669	101080669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:101080669C>A	ENST00000394095.2	-	11	1566	c.1513G>T	c.(1513-1515)Gag>Tag	p.E505*	SENP7_ENST00000358203.3_Nonsense_Mutation_p.E341*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.E341*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.E472*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.E439*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.E440*	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	505					proteolysis	nucleus	cysteine-type peptidase activity	p.E505*(1)|p.E439*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAATGTTCTCCATGACAGGA	0.294000													11	41					1.49906e-05	1.65872e-05	0.002450	1	0
NMUR2	56923	broad.mit.edu	37	5	151784306	151784306	+	Silent	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:151784306C>G	ENST00000255262.3	-	1	534	c.369G>C	c.(367-369)acG>acC	p.T123T	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	123					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.T123T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAAAGAGGGCCGTCTTGAAGT	0.607000													56	100					0	0	0.014410	0	0
OR8H2	390151	broad.mit.edu	37	11	55872729	55872729	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:55872729G>T	ENST00000313503.1	+	1	211	c.211G>T	c.(211-213)Gac>Tac	p.D71Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D71Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTCATTTATTGACCTCAGTTA	0.423000										HNSCC(53;0.14)			101	373					1.75558e-51	2.65825e-51	0.014410	1	0
KLF17	128209	broad.mit.edu	37	1	44596259	44596259	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:44596259T>A	ENST00000372299.3	+	3	1059	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	334					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.M334K(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGACGACATATGCGGGTACAC	0.488000													58	98					0	0	0.014410	0	0
VEPH1	79674	broad.mit.edu	37	3	157131778	157131778	+	Silent	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:157131778T>A	ENST00000362010.2	-	6	1105	c.798A>T	c.(796-798)ccA>ccT	p.P266P	VEPH1_ENST00000392832.2_Silent_p.P266P|VEPH1_ENST00000392833.2_Silent_p.P266P|VEPH1_ENST00000543418.1_Silent_p.P266P|VEPH1_ENST00000469007.1_5'UTR	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	266						plasma membrane		p.P266P(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCAAAGCCACTGGCTCATAGA	0.428000													25	47					0	0	0.004656	0	0
PHF3	23469	broad.mit.edu	37	6	64421087	64421087	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:64421087C>A	ENST00000262043.3	+	15	4166	c.3826C>A	c.(3826-3828)Cca>Aca	p.P1276T	PHF3_ENST00000393387.1_Missense_Mutation_p.P1276T			Q92576	PHF3_HUMAN	PHD finger protein 3	1276					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1276T(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCGCTTCACACCAGTAACTGA	0.338000													16	23					9.16793e-09	1.08851e-08	0.004990	1	0
OR2L8	391190	broad.mit.edu	37	1	248112550	248112550	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:248112550T>A	ENST00000357191.3	+	1	391	c.391T>A	c.(391-393)Tat>Aat	p.Y131N	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y131N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCCTCTCCACTATCTCATCCG	0.438000													48	239					0	0	0.014410	0	0
ZNF594	84622	broad.mit.edu	37	17	5085737	5085737	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:5085737G>A	ENST00000399604.4	-	1	1955	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	ZNF594_ENST00000575779.1_Silent_p.F605F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F605F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGCTCTGATTGAAAGTTTTCC	0.423000													95	190					0	0	0.014410	0	0
POT1	25913	broad.mit.edu	37	7	124503667	124503667	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:124503667C>A	ENST00000357628.3	-	8	881	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	95					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.G95C(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTGGTGATACCCTGAGTCTCC	0.398000													20	83					2.27731e-05	2.51243e-05	0.012319	1	0
TMEM132C	92293	broad.mit.edu	37	12	128899811	128899811	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:128899811C>G	ENST00000435159.2	+	2	620	c.620C>G	c.(619-621)gCc>gGc	p.A207G		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	207						integral to membrane		p.A207G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TGGTTCAGTGCCCCGACGGTG	0.662000													3	3					0	0	0.009096	0	0
MPP2	4355	broad.mit.edu	37	17	41958710	41958710	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:41958710T>C	ENST00000269095.4	-	8	1125	c.821A>G	c.(820-822)cAt>cGt	p.H274R	MPP2_ENST00000518766.1_Missense_Mutation_p.H319R|MPP2_ENST00000523501.1_Missense_Mutation_p.H263R|MPP2_ENST00000520305.1_Missense_Mutation_p.H135R|MPP2_ENST00000461854.1_Missense_Mutation_p.H298R|MPP2_ENST00000536246.1_Missense_Mutation_p.H263R|MPP2_ENST00000377184.3_Missense_Mutation_p.H291R	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	298	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	p.H274R(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCCTTCGACATGGCATGCCTA	0.592000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	130					0	0	0.014410	0	0
ATP2B1	490	broad.mit.edu	37	12	89997942	89997942	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:89997942C>A	ENST00000428670.3	-	16	3080	c.2624G>T	c.(2623-2625)tGc>tTc	p.C875F	ATP2B1_ENST00000261173.2_Missense_Mutation_p.C875F|ATP2B1_ENST00000393164.2_Missense_Mutation_p.C618F|ATP2B1_ENST00000348959.3_Missense_Mutation_p.C875F|ATP2B1_ENST00000359142.3_Missense_Mutation_p.C875F			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	875					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.C875F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGAGTAATGCAGGCGCCCGT	0.333000													10	37					1.5842e-08	1.86906e-08	0.001855	1	0
ACAD8	27034	broad.mit.edu	37	11	134131236	134131236	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:134131236G>C	ENST00000281182.4	+	8	1015	c.909G>C	c.(907-909)aaG>aaC	p.K303N	ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.K176N|ACAD8_ENST00000537423.1_Missense_Mutation_p.K226N|ACAD8_ENST00000543332.1_Missense_Mutation_p.K205N	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	303					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.K303N(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		ATGTCCGGAAGCAGTTTGGAG	0.602000													9	80					0	0	0.006214	0	0
SMARCA4	6597	broad.mit.edu	37	19	11169547	11169547	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:11169547C>T	ENST00000358026.2	+	33	4997	c.4713C>T	c.(4711-4713)ttC>ttT	p.F1571F	SMARCA4_ENST00000429416.3_Silent_p.F1539F|SMARCA4_ENST00000444061.3_Silent_p.F1505F|SMARCA4_ENST00000450717.3_Silent_p.F1508F|SMARCA4_ENST00000344626.4_Silent_p.F1539F|SMARCA4_ENST00000541122.2_Silent_p.F1509F|SMARCA4_ENST00000413806.3_Silent_p.F1509F|SMARCA4_ENST00000589677.1_Silent_p.F1508F|SMARCA4_ENST00000590574.1_Silent_p.F1506F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1539	Poly-Glu.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.F1571F(1)|p.F1539F(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CACAGACCTTCAACCTGGAGG	0.627000			"""F, N, Mis"""		NSCLC								22	42					0	0	0.002780	0	0
ANK2	287	broad.mit.edu	37	4	114278296	114278296	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:114278296G>T	ENST00000357077.4	+	38	8575	c.8522G>T	c.(8521-8523)aGt>aTt	p.S2841I	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2808I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2808					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2841I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATTGCCCCAGTGAAAGCTTT	0.388000													61	185					4.64241e-40	6.97293e-40	0.014410	1	0
ZNF479	90827	broad.mit.edu	37	7	57187793	57187793	+	Silent	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:57187793G>T	ENST00000331162.4	-	5	1599	c.1329C>A	c.(1327-1329)ggC>ggA	p.G443G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G443G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TAAAGGCTTTGCCACATTCTT	0.433000													26	75					4.44401e-20	6.17866e-20	0.010771	1	0
EGFR	1956	broad.mit.edu	37	7	55227926	55227926	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:55227926G>A	ENST00000275493.2	+	12	1570	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	EGFR_ENST00000454757.2_Missense_Mutation_p.G412R|EGFR_ENST00000442591.1_Missense_Mutation_p.G465R|EGFR_ENST00000342916.3_Missense_Mutation_p.G465R|EGFR_ENST00000455089.1_Missense_Mutation_p.G420R|EGFR_ENST00000344576.2_Missense_Mutation_p.G465R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	465					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G465R(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATAATTTCAGGAAACAAAAA	0.393000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			35	91					0	0	0.003755	0	0
ABCA13	154664	broad.mit.edu	37	7	48335346	48335346	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:48335346T>G	ENST00000435803.1	+	21	9029	c.9005T>G	c.(9004-9006)cTt>cGt	p.L3002R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3002					transport	integral to membrane	ATP binding|ATPase activity	p.L3002R(1)|p.L2947R(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTGAAAGTCTTAGCAAGAAT	0.448000													22	250					0	0	0.010504	0	0
ACTL9	284382	broad.mit.edu	37	19	8807981	8807981	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:8807981C>G	ENST00000324436.3	-	1	1191	c.1071G>C	c.(1069-1071)gaG>gaC	p.E357D		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	357						cytoplasm|cytoskeleton		p.E357D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGCGCAGCAGCTCTGCCCGGA	0.657000													15	17					0	0	0.004990	0	0
MEFV	4210	broad.mit.edu	37	16	3299678	3299678	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:3299678A>C	ENST00000219596.1	-	3	1052	c.1013T>G	c.(1012-1014)gTt>gGt	p.V338G	MEFV_ENST00000339854.4_Missense_Mutation_p.V158G|MEFV_ENST00000536379.1_Missense_Mutation_p.V127G|MEFV_ENST00000541159.1_Missense_Mutation_p.V127G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	338					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.V127G(1)|p.V338G(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GTGCCCAGAAACTGCCTCGGG	0.677000													18	35					0	0	0.010504	0	0
ABCB5	340273	broad.mit.edu	37	7	20784894	20784894	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:20784894T>C	ENST00000404938.2	+	26	3914	c.3262T>C	c.(3262-3264)Tgg>Cgg	p.W1088R	ABCB5_ENST00000258738.6_Missense_Mutation_p.W643R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	643					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	p.W1088R(1)|p.W643R(1)		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						GAATGTACAGTGGCTCCGTTC	0.463000													18	69					0	0	0.003954	0	0
ZNF578	147660	broad.mit.edu	37	19	53007912	53007912	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:53007912G>T	ENST00000421239.2	+	5	312	c.68G>T	c.(67-69)cGc>cTc	p.R23L		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R23L(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTTAGGGACGCTTGACTTTC	0.403000													43	120					1.11015e-26	1.58472e-26	0.014410	1	0
NDST4	64579	broad.mit.edu	37	4	115998178	115998178	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:115998178C>T	ENST00000264363.2	-	2	693	c.15G>A	c.(13-15)gtG>gtA	p.V5V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	5						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V5V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCGAAGTTTCACAATAAGAT	0.343000													6	14					0	0	0.004482	0	0
PLEC	5339	broad.mit.edu	37	8	144997574	144997574	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:144997574C>T	ENST00000322810.4	-	31	7103	c.6934G>A	c.(6934-6936)Gag>Aag	p.E2312K	PLEC_ENST00000527096.1_Missense_Mutation_p.E2198K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2202K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2153K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2175K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2143K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2179K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2161K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2175K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2312	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2312K(1)|p.E2202K(1)|p.E2175K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCGTCTGCTCGGCGAATTTC	0.667000													4	28					0	0	0.000602	0	0
HOXA5	3202	broad.mit.edu	37	7	27181467	27181467	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:27181467G>T	ENST00000222726.3	-	2	860	c.800C>A	c.(799-801)gCc>gAc	p.A267D	HOXA3_ENST00000467897.2_Intron|HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	267					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A267D(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGGACGGAAGGCCCCTCCTGC	0.468000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	114					0.00136819	0.00142934	0.013537	1	0
TRPM1	4308	broad.mit.edu	37	15	31354818	31354818	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:31354818A>C	ENST00000542188.1	-	8	1417	c.1104T>G	c.(1102-1104)ttT>ttG	p.F368L	TRPM1_ENST00000256552.6_Missense_Mutation_p.F351L|TRPM1_ENST00000397795.2_Missense_Mutation_p.F329L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	329					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.F329L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTATAATTGCAAACAGCTGAT	0.333000													25	104					0	0	0.005443	0	0
SUMO3	6612	broad.mit.edu	37	21	46228916	46228916	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:46228916C>T	ENST00000397898.3	-	3	350	c.268G>A	c.(268-270)Gcg>Acg	p.A90T	SUMO3_ENST00000411651.2_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		AGTTACCCCGCACAAATCGGA	0.453000													8	27					0	0	0.003080	0	0
ANKK1	255239	broad.mit.edu	37	11	113266799	113266799	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:113266799G>T	ENST00000303941.3	+	5	787	c.693G>T	c.(691-693)atG>atT	p.M231I		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	231	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.M231I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGTTCAACATGATGATGATTA	0.602000													12	58					8.04996e-18	1.09479e-17	0.012319	1	0
POLR1A	25885	broad.mit.edu	37	2	86255764	86255764	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:86255764G>A	ENST00000263857.6	-	32	5228	c.4850C>T	c.(4849-4851)gCg>gTg	p.A1617V	POLR1A_ENST00000409681.1_Missense_Mutation_p.A1556V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1617					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.A1617V(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACCCGCAGCGCGGCCTCAAT	0.567000													10	119					0	0	0.001855	0	0
ADAM2	2515	broad.mit.edu	37	8	39604102	39604102	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:39604102G>A	ENST00000265708.4	-	19	2166	c.2063C>T	c.(2062-2064)cCa>cTa	p.P688L	ADAM2_ENST00000521880.1_Missense_Mutation_p.P625L|ADAM2_ENST00000379853.2_Missense_Mutation_p.P532L|ADAM2_ENST00000347580.4_Missense_Mutation_p.P669L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	688					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P688L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAAGAAAAATGGCCATCTCAT	0.313000													16	49					0	0	0.006122	0	0
REV1	51455	broad.mit.edu	37	2	100050907	100050907	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:100050907T>A	ENST00000258428.3	-	8	1553	c.1325A>T	c.(1324-1326)aAa>aTa	p.K442I	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.K442I	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	442	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.K442I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCACTGGTTTTCCTGTGAG	0.393000								Direct reversal of damage					12	16					0	0	0.006320	0	0
TLN2	83660	broad.mit.edu	37	15	62989999	62989999	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:62989999G>T	ENST00000561311.1	+	14	1635	c.1405G>T	c.(1405-1407)Ggc>Tgc	p.G469C	TLN2_ENST00000306829.6_Missense_Mutation_p.G469C			Q9Y4G6	TLN2_HUMAN	talin 2	469					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.G469F(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						CTTCAACGTTGGCAGCATGCC	0.667000													31	59					1.80694e-10	2.20849e-10	0.009535	1	0
HPS6	79803	broad.mit.edu	37	10	103826182	103826182	+	Silent	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:103826182A>G	ENST00000299238.5	+	1	1036	c.951A>G	c.(949-951)ctA>ctG	p.L317L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	317						cytosol|early endosome membrane|endoplasmic reticulum|microsome		p.L317L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTGCAGCCCTAGGCACATTTC	0.632000									Hermansky-Pudlak syndrome				34	77					0	0	0.003755	0	0
PEG3	5178	broad.mit.edu	37	19	57325767	57325767	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:57325767G>A	ENST00000326441.9	-	10	4406	c.4043C>T	c.(4042-4044)aCt>aTt	p.T1348I	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T1222I|PEG3_ENST00000598410.1_Missense_Mutation_p.T1224I|PEG3_ENST00000423103.2_Missense_Mutation_p.T1348I|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1348					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1348I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTATGTTTAGTGAGGACTGT	0.448000													21	58					0	0	0.012319	0	0
GPR4	2828	broad.mit.edu	37	19	46095096	46095096	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:46095096T>G	ENST00000323040.4	-	2	973	c.29A>C	c.(28-30)cAc>cCc	p.H10P	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	10						integral to plasma membrane	G-protein coupled receptor activity	p.H10P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGAGTCCACGTGGCAGCCCTC	0.692000													24	39					0	0	0.007291	0	0
OR2A1	346528	broad.mit.edu	37	7	144015469	144015469	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:144015469C>A	ENST00000408951.1	+	1	252	c.252C>A	c.(250-252)ctC>ctA	p.L84L	RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L84L(1)		large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					TGGCGAACCTCCTGCATCCAG	0.567000													7	148					1.49906e-05	1.65872e-05	0.002450	1	0
GLDC	2731	broad.mit.edu	37	9	6602206	6602206	+	Splice_Site	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:6602206C>A	ENST00000321612.6	-	8	1209		c.e8-1			NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)						glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.?(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGTGGCATCTCTACACCAAGA	0.443000													20	34					4.35082e-09	5.2154e-09	0.010504	1	0
CCDC88B	283234	broad.mit.edu	37	11	64111949	64111949	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:64111949C>T	ENST00000356786.5	+	14	1980	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	646					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.P646S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACAGGAGGGCCCTGAGCACAA	0.657000													10	26					0	0	0.010729	0	0
ZC3H14	79882	broad.mit.edu	37	14	89061323	89061323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:89061323G>T	ENST00000555900.1	+	1	565	c.253G>T	c.(253-255)Gag>Tag	p.E85*	ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000318308.6_Nonsense_Mutation_p.E85*|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000406216.3_Nonsense_Mutation_p.E85*|ZC3H14_ENST00000556945.1_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	302						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	p.E85*(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTCATCTTTGGAGGTTAAAAT	0.313000													7	34					0.000157383	0.000169142	0.003080	1	0
CHAT	1103	broad.mit.edu	37	10	50863273	50863273	+	Silent	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:50863273T>A	ENST00000395562.2	+	13	1990	c.1521T>A	c.(1519-1521)gcT>gcA	p.A507A	CHAT_ENST00000337653.2_Silent_p.A589A|CHAT_ENST00000395559.2_Silent_p.A471A|CHAT_ENST00000339797.1_Silent_p.A471A|CHAT_ENST00000455728.2_Silent_p.A471A|CHAT_ENST00000351556.3_Silent_p.A471A	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	589					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.A589A(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACCACAAGGCTGCTGTGCCAG	0.642000													29	69					0	0	0.013726	0	0
POLR2A	5430	broad.mit.edu	37	17	7416687	7416687	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:7416687A>T	ENST00000322644.6	+	29	5503	c.5104A>T	c.(5104-5106)Aca>Tca	p.T1702S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1702	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.T1702S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ctactcaccgacatctcccag	0.587000													17	18					0	0	0.006122	0	0
SCN2A	6326	broad.mit.edu	37	2	166245809	166245809	+	Silent	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:166245809A>T	ENST00000375437.2	+	27	5783	c.5493A>T	c.(5491-5493)atA>atT	p.I1831I	SCN2A_ENST00000283256.6_Silent_p.I1831I|SCN2A_ENST00000375427.2_Silent_p.I1831I|SCN2A_ENST00000357398.3_Silent_p.I1831I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1831					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1832S(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCTTCTCATAGCAAAACCCA	0.463000													56	88					0	0	0.014410	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200383	72200383	+	Splice_Site	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:72200383G>C	ENST00000555818.1	+	19	5273	c.4924_splice	c.e19-1	p.G1642_splice	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Splice_Site_p.G1621_splice|SIPA1L1_ENST00000358550.2_Splice_Site_p.G1621_splice|SIPA1L1_ENST00000537413.1_Splice_Site_p.G1096_splice	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1642					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.G1642A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTCCCGCAGGAGAGTTCTCA	0.557000													21	90					0	0	0.014323	0	0
TLL2	7093	broad.mit.edu	37	10	98146791	98146791	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:98146791G>T	ENST00000357947.3	-	14	1996	c.1771C>A	c.(1771-1773)Cgc>Agc	p.R591S		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	591	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R591S(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCACACAGCGATGCTCGCAC	0.597000													25	45					3.73988e-18	5.1048e-18	0.006320	1	0
KCNH4	23415	broad.mit.edu	37	17	40312060	40312060	+	Nonstop_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:40312060A>T	ENST00000264661.3	-	16	3384	c.3052T>A	c.(3052-3054)Tga>Aga	p.*1018R	KCNH4_ENST00000607371.1_Nonstop_Mutation_p.*1018R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	0					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	p.*1018R(1)		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)		GGCCAGGGTCAGTGGAACGTG	0.672000													17	58					0	0	0.007413	0	0
RHOB	388	broad.mit.edu	37	2	20647421	20647421	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:20647421C>T	ENST00000272233.4	+	1	587	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	65					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	p.D65D(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCCAGGAGGACTACGACCGCC	0.637000													17	28					0	0	0.005443	0	0
FASN	2194	broad.mit.edu	37	17	80046702	80046702	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:80046702C>T	ENST00000306749.2	-	15	2573	c.2355G>A	c.(2353-2355)atG>atA	p.M785I		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	785	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.M785I(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GATCCTTCTTCATCAGGGGGA	0.667000													15	61					0	0	0.006122	0	0
ETS2	2114	broad.mit.edu	37	21	40186898	40186898	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:40186898G>A	ENST00000360214.3	+	6	958	c.498G>A	c.(496-498)atG>atA	p.M166I	ETS2_ENST00000360938.3_Missense_Mutation_p.M166I	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	166	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.M166I(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGGAGCAAATGATCAAAGGTA	0.507000													40	140					0	0	0.007835	0	0
ARID1B	57492	broad.mit.edu	37	6	157502244	157502244	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:157502244G>C	ENST00000346085.5	+	12	3278	c.3277G>C	c.(3277-3279)Gtg>Ctg	p.V1093L	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.V1080L|ARID1B_ENST00000275248.4_Missense_Mutation_p.V1075L|ARID1B_ENST00000367148.1_Missense_Mutation_p.V1133L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1080	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.V1093L(1)|p.V1075L(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTGCCTGCCGTGGGCAAGAA	0.572000													24	23					0	0	0.006320	0	0
AHNAK	79026	broad.mit.edu	37	11	62297219	62297219	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:62297219G>C	ENST00000378024.4	-	5	4944	c.4670C>G	c.(4669-4671)gCt>gGt	p.A1557G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1557					nervous system development	nucleus	protein binding	p.A1557G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCCTCTGGAGCTTCAAGATT	0.468000													67	189					0	0	0.014410	0	0
NRXN2	9379	broad.mit.edu	37	11	64428366	64428366	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:64428366C>T	ENST00000265459.6	-	10	2505	c.2044G>A	c.(2044-2046)Gtt>Att	p.V682I	NRXN2_ENST00000377559.3_Missense_Mutation_p.V651I|NRXN2_ENST00000409571.1_Missense_Mutation_p.V675I|NRXN2_ENST00000377551.1_Missense_Mutation_p.V682I|NRXN2_ENST00000496291.1_5'UTR	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	682	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.V682I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGGGGGCAACGCCCACAGCC	0.652000													21	59					0	0	0.012319	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672024	3672024	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr20:3672024C>A	ENST00000344754.4	-	17	4553	c.4554G>T	c.(4552-4554)ggG>ggT	p.G1518G	SIGLEC1_ENST00000202578.4_Silent_p.G1518G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1518	Ig-like C2-type 15.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.G1518G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGCAGCAGCCCCAGTGGGGA	0.642000													32	72					4.62619e-21	6.48013e-21	0.004289	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75557714	75557714	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:75557714C>T	ENST00000604729.1	+	19	4135	c.3838C>T	c.(3838-3840)Cgc>Tgc	p.R1280C	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1275C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1275C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1280C|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1242C					zinc finger, SWIM-type containing 8									p.R660C(1)|p.R1280C(1)|p.R1275C(1)									GGGTCCTCACCGCAACCTGCA	0.552000													13	127					0	0	0.002450	0	0
ZNF423	23090	broad.mit.edu	37	16	49670145	49670145	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:49670145G>A	ENST00000561648.1	-	4	2971	c.2918C>T	c.(2917-2919)aCg>aTg	p.T973M	ZNF423_ENST00000563137.2_Missense_Mutation_p.T913M|ZNF423_ENST00000535559.1_Missense_Mutation_p.T856M|ZNF423_ENST00000567169.1_Missense_Mutation_p.T856M|ZNF423_ENST00000262383.2_Missense_Mutation_p.T973M|ZNF423_ENST00000562520.1_Missense_Mutation_p.T913M|ZNF423_ENST00000562871.1_Missense_Mutation_p.T913M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	973					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.T973M(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTCGGTGAGCGTCAGCAGCGA	0.612000													10	58					0	0	0.001855	0	0
PKHD1	5314	broad.mit.edu	37	6	51612586	51612586	+	Splice_Site	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:51612586T>A	ENST00000371117.3	-	58	10103	c.9829_splice	c.e58+1	p.Q3276_splice	PKHD1_ENST00000340994.4_Splice_Site_p.Q3276_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3276					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.Q3276H(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATCCTACCTTGAAGTTTCA	0.368000													27	33					0	0	0.008361	0	0
CACNG5	27091	broad.mit.edu	37	17	64873625	64873625	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:64873625T>A	ENST00000533854.1	+	2	412	c.175T>A	c.(175-177)Tgg>Agg	p.W59R	CACNG5_ENST00000169565.3_Missense_Mutation_p.W59R|CACNG5_ENST00000307139.3_Missense_Mutation_p.W59R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	59					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.W59R(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTCAGGCCTCTGGCGGGTCTG	0.622000													32	76					0	0	0.012213	0	0
AMER3	205147	broad.mit.edu	37	2	131520566	131520566	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:131520566C>T	ENST00000423981.1	+	2	1031	c.921C>T	c.(919-921)acC>acT	p.T307T	AMER3_ENST00000321420.4_Silent_p.T307T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.T307T(1)									CTGACTTCACCAGGTTCTGGG	0.652000													37	37					0	0	0.007835	0	0
TSSC2	650368	broad.mit.edu	37	11	3426172	3426172	+	RNA	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:3426172C>G	ENST00000529482.1	+	0	845																											GGCTGGAGGCCGAGGACTACC	0.612000													14	38					0	0	0.002450	0	0
RPGR	6103	broad.mit.edu	37	X	38132728	38132728	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrX:38132728A>G	ENST00000339363.3	-	17	2934	c.2767T>C	c.(2767-2769)Tac>Cac	p.Y923H	RPGR_ENST00000309513.3_Missense_Mutation_p.Y656H|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.Y718H|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	923					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.Y718H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCAAGCATGTATCCTACAATT	0.358000													2	8					0	0	0.004672	0	0
GPR158	57512	broad.mit.edu	37	10	25886786	25886786	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:25886786G>A	ENST00000376351.3	+	11	2590	c.2231G>A	c.(2230-2232)cGg>cAg	p.R744Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	744						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R744Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGAAAAAGCGGTGCTCGAAG	0.498000													24	193					0	0	0.005443	0	0
TRPC4	7223	broad.mit.edu	37	13	38320578	38320578	+	Silent	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:38320578G>T	ENST00000379705.3	-	3	1250	c.393C>A	c.(391-393)ctC>ctA	p.L131L	TRPC4_ENST00000379673.2_Silent_p.L131L|TRPC4_ENST00000379681.3_Silent_p.L131L|TRPC4_ENST00000358477.2_Silent_p.L131L|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Silent_p.L131L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Silent_p.L131L|TRPC4_ENST00000355779.2_Silent_p.L131L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	131	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.L131L(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCTTATCAAGGAGTATAGGAG	0.343000													37	106					2.54651e-27	3.64902e-27	0.006999	1	0
PTPRD	5789	broad.mit.edu	37	9	8518298	8518298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:8518298C>A	ENST00000381196.4	-	18	1636	c.1093G>T	c.(1093-1095)Gaa>Taa	p.E365*	PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E352*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E365*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.E355*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.E355*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.E365*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.E362*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.E365*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E352*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.E362*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E365*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	365	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E364_E365>D*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGTAAAGTTCCTCAGAGTTT	0.458000										TSP Lung(15;0.13)			57	95					7.89702e-26	1.123e-25	0.014410	1	0
PIEZO2	63895	broad.mit.edu	37	18	10672737	10672737	+	Silent	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr18:10672737G>C	ENST00000302079.6	-	50	7766	c.7767C>G	c.(7765-7767)gtC>gtG	p.V2589V	PIEZO2_ENST00000503781.3_Silent_p.V2652V|PIEZO2_ENST00000285141.4_Silent_p.V444V|PIEZO2_ENST00000538948.1_Silent_p.V609V|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Silent_p.V2677V			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2652						integral to membrane	ion channel activity	p.V444V(1)|p.V2652V(1)									TGTCATTGAAGACCACCAGTT	0.453000													25	80					0	0	0.004656	0	0
TEP1	7011	broad.mit.edu	37	14	20859920	20859920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:20859920C>T	ENST00000262715.5	-	13	1975	c.1935G>A	c.(1933-1935)tgG>tgA	p.W645*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.W537*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	645	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.W645*(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATCATATTTCCACTGTCTAC	0.542000													42	109					0	0	0.010771	0	0
NF1	4763	broad.mit.edu	37	17	29560147	29560147	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:29560147G>T	ENST00000358273.4	+	27	4007	c.3624G>T	c.(3622-3624)ttG>ttT	p.L1208F	NF1_ENST00000356175.3_Missense_Mutation_p.L1208F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1208					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.L1208F(2)|p.G1190fs*1(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGAGAGATTGGTGGAACTGG	0.438000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			34	128					2.04263e-09	2.45641e-09	0.004289	1	0
OTUD7B	56957	broad.mit.edu	37	1	149919162	149919162	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:149919162G>A	ENST00000369135.3	-	11	1607	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	438	Catalytic.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.S438F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTGTGCATCAGAGGACAGTGG	0.418000													32	98					0	0	0.012213	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946499	46946499	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:46946499G>A	ENST00000429979.1	-	3	716	c.112C>T	c.(112-114)Cct>Tct	p.P38S	KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P38S|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P38S|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P38S|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P38S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	38								p.P38S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGGCAAGGAGGATGGTCAGTG	0.537000													10	27					0	0	0.008291	0	0
HEATR1	55127	broad.mit.edu	37	1	236732404	236732404	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:236732404G>C	ENST00000366582.3	-	29	4083	c.3969C>G	c.(3967-3969)atC>atG	p.I1323M	HEATR1_ENST00000366581.2_Missense_Mutation_p.I1242M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1323					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.I1323M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAATAGACATGATATTGTGTA	0.313000													7	48					0	0	0.003080	0	0
OR2T33	391195	broad.mit.edu	37	1	248436673	248436673	+	Silent	SNP	G	G	A	rs150467351		TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:248436673G>A	ENST00000318021.2	-	1	465	c.444C>T	c.(442-444)ctC>ctT	p.L148L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L148L(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCACCCAGGAGCCAACACG	0.592000													21	89					0	0	0.014323	0	0
FAT4	79633	broad.mit.edu	37	4	126373678	126373678	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:126373678T>A	ENST00000394329.3	+	9	11520	c.11507T>A	c.(11506-11508)aTc>aAc	p.I3836N	FAT4_ENST00000335110.5_Missense_Mutation_p.I2134N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3836	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I3836N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCCAGTCATCATCGTGGCA	0.478000													13	55					0	0	0.002450	0	0
POLR2B	5431	broad.mit.edu	37	4	57873091	57873091	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:57873091G>T	ENST00000381227.1	+	11	1740	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C	POLR2B_ENST00000314595.5_Missense_Mutation_p.G443C|POLR2B_ENST00000441246.2_Missense_Mutation_p.G436C|POLR2B_ENST00000431623.2_Missense_Mutation_p.G368C			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	443					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.G443C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATATCTGATGGCCTAAAATA	0.398000													20	85					1.40151e-16	1.89915e-16	0.010504	1	0
WFDC10B	280664	broad.mit.edu	37	20	44313498	44313498	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr20:44313498A>T	ENST00000330523.5	-	4	423	c.193T>A	c.(193-195)Tgt>Agt	p.C65S	WFDC10B_ENST00000335769.2_Missense_Mutation_p.C81S	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	65	WAP.					extracellular region	peptidase inhibitor activity	p.C65S(1)		lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				ATGTTCCCACAGAAGGCTGAA	0.478000													50	112					0	0	0.014410	0	0
AMER3	205147	broad.mit.edu	37	2	131521626	131521626	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:131521626G>A	ENST00000423981.1	+	2	2091	c.1981G>A	c.(1981-1983)Ggt>Agt	p.G661S	AMER3_ENST00000321420.4_Missense_Mutation_p.G661S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.G661S(1)									CTGGAGGCCAGGTCACGGAGG	0.647000													8	14					0	0	0.010729	0	0
TLN2	83660	broad.mit.edu	37	15	62990000	62990000	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:62990000G>T	ENST00000561311.1	+	14	1636	c.1406G>T	c.(1405-1407)gGc>gTc	p.G469V	TLN2_ENST00000306829.6_Missense_Mutation_p.G469V			Q9Y4G6	TLN2_HUMAN	talin 2	469					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.G469F(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						TTCAACGTTGGCAGCATGCCC	0.662000													31	60					1.80694e-10	2.20849e-10	0.009535	1	0
EZH1	2145	broad.mit.edu	37	17	40857122	40857122	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:40857122G>A	ENST00000428826.2	-	17	2040	c.1919C>T	c.(1918-1920)tCt>tTt	p.S640F	EZH1_ENST00000592743.1_Missense_Mutation_p.S640F|EZH1_ENST00000435174.1_Missense_Mutation_p.S501F|EZH1_ENST00000415827.2_Missense_Mutation_p.S631F|EZH1_ENST00000590078.1_Missense_Mutation_p.S570F|EZH1_ENST00000585893.1_Missense_Mutation_p.S600F|EZH1_ENST00000590783.1_5'UTR			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	640	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	p.S640F(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACAGTATTCAGAAATGAATTC	0.522000													7	139					0	0	0.003080	0	0
POLR3A	11128	broad.mit.edu	37	10	79773475	79773475	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:79773475C>A	ENST00000372371.3	-	11	1642	c.1505G>T	c.(1504-1506)gGt>gTt	p.G502V	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	502					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.G502V(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATTTCATCACCATCAAAGTC	0.463000													28	150					5.45727e-16	7.34179e-16	0.008361	1	0
SLC25A18	83733	broad.mit.edu	37	22	18063888	18063888	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr22:18063888C>A	ENST00000327451.5	+	4	644	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.L36M	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	36						integral to membrane|mitochondrial inner membrane	binding|symporter activity	p.L36M(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CAAGACTCGCCTGCAGAACCA	0.627000													10	3					0.000673444	0.000709488	0.008291	1	0
TECTA	7007	broad.mit.edu	37	11	121008270	121008270	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:121008270A>T	ENST00000392793.1	+	11	3353	c.3082A>T	c.(3082-3084)Agc>Tgc	p.S1028C	TECTA_ENST00000264037.2_Missense_Mutation_p.S1028C			O75443	TECTA_HUMAN	tectorin alpha	1028	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.S1028C(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTACTGGGCAGCCAGTGTGT	0.572000													31	75					0	0	0.003271	0	0
PTPRD	5789	broad.mit.edu	37	9	8518299	8518299	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:8518299C>A	ENST00000381196.4	-	18	1635	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D	PTPRD_ENST00000358503.5_Missense_Mutation_p.E351D|PTPRD_ENST00000356435.5_Missense_Mutation_p.E364D|PTPRD_ENST00000397606.3_Missense_Mutation_p.E354D|PTPRD_ENST00000397617.3_Missense_Mutation_p.E354D|PTPRD_ENST00000486161.1_Missense_Mutation_p.E364D|PTPRD_ENST00000397611.3_Missense_Mutation_p.E361D|PTPRD_ENST00000355233.5_Missense_Mutation_p.E364D|PTPRD_ENST00000360074.4_Missense_Mutation_p.E351D|PTPRD_ENST00000537002.1_Missense_Mutation_p.E361D|PTPRD_ENST00000540109.1_Missense_Mutation_p.E364D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	364	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E364_E365>D*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTAAAGTTCCTCAGAGTTTT	0.458000										TSP Lung(15;0.13)			56	96					5.22555e-25	7.40287e-25	0.014410	1	0
OR5L1	219437	broad.mit.edu	37	11	55579095	55579095	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:55579095C>A	ENST00000333973.2	+	1	242	c.153C>A	c.(151-153)gtC>gtA	p.V51V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V51V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGATTCAGGTCAGCTCTCGGC	0.478000													84	222					1.48072e-28	2.12996e-28	0.014410	1	0
STAB2	55576	broad.mit.edu	37	12	104099502	104099502	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:104099502C>T	ENST00000388887.2	+	37	4197	c.3993C>T	c.(3991-3993)gtC>gtT	p.V1331V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1331					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.V1331V(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAGAACCGTCATTGTGAGTA	0.413000													27	59					0	0	0.006320	0	0
GREB1	9687	broad.mit.edu	37	2	11716647	11716647	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:11716647G>A	ENST00000381486.2	+	5	923	c.623G>A	c.(622-624)tGt>tAt	p.C208Y	GREB1_ENST00000263834.5_Missense_Mutation_p.C208Y|GREB1_ENST00000389825.3_Missense_Mutation_p.C98Y|GREB1_ENST00000234142.5_Missense_Mutation_p.C208Y|GREB1_ENST00000381483.2_Missense_Mutation_p.C208Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	208						integral to membrane		p.C208Y(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTTTAATCTGTTGGAAAGGC	0.527000													8	125					0	0	0.006214	0	0
NEURL4	84461	broad.mit.edu	37	17	7220798	7220798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:7220798G>A	ENST00000399464.2	-	27	4315	c.4300C>T	c.(4300-4302)Cga>Tga	p.R1434*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.R1432*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.R1410*|NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.T247T	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.R1434*(1)|p.R1432*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCTCCCCTCGGTCCAGCACT	0.592000													21	148					0	0	0.014323	0	0
RBP3	5949	broad.mit.edu	37	10	48381910	48381910	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:48381910G>A	ENST00000224600.4	-	4	3852	c.3739C>T	c.(3739-3741)Ctg>Ttg	p.L1247L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1247					lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L1247L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTCCCTACAGGTGGTCCTGC	0.652000													7	23					0	0	0.004482	0	0
NID2	22795	broad.mit.edu	37	14	52493964	52493964	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:52493964A>C	ENST00000216286.5	-	12	2628	c.2629T>G	c.(2629-2631)Tgt>Ggt	p.C877G	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	877	EGF-like 4.					basement membrane	calcium ion binding|collagen binding	p.C877G(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGCAGGCACAGCTGAACGTG	0.592000													7	26					0	0	0.001984	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167783	140167783	+	Silent	SNP	C	C	G	rs146713367		TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:140167783C>G	ENST00000504120.2	+	1	1908	c.1908C>G	c.(1906-1908)gtC>gtG	p.V636V	PCDHA1_ENST00000378133.3_Silent_p.V636V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1												p.V636V(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACTCGTGTCCTGGACGAGG	0.647000													45	86					0	0	0.014410	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49304865	49304865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:49304865G>A	ENST00000559471.1	-	12	1974	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.R526*	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	571								p.R526*(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCTGTGGGTCGTTTTAGTTTT	0.333000													8	103					0	0	0.004482	0	0
LPHN3	23284	broad.mit.edu	37	4	62758579	62758579	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:62758579C>T	ENST00000512091.1	+	9	2229	c.1482C>T	c.(1480-1482)ctC>ctT	p.L494L	LPHN3_ENST00000508693.1_Silent_p.L562L|LPHN3_ENST00000509896.1_Silent_p.L562L|LPHN3_ENST00000504896.1_Silent_p.L494L|LPHN3_ENST00000514591.1_Silent_p.L494L|LPHN3_ENST00000514157.1_Silent_p.L494L|LPHN3_ENST00000506720.1_Silent_p.L562L|LPHN3_ENST00000545650.1_Silent_p.L494L|LPHN3_ENST00000508946.1_Silent_p.L494L|LPHN3_ENST00000507625.1_Silent_p.L562L|LPHN3_ENST00000514996.1_Silent_p.L494L|LPHN3_ENST00000511324.1_Silent_p.L562L|LPHN3_ENST00000506746.1_Silent_p.L562L|LPHN3_ENST00000507164.1_Silent_p.L562L|LPHN3_ENST00000506700.1_Silent_p.L494L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	494					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.L494L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCCCAGCTCTCGAAGAGAGCT	0.507000													11	42					0	0	0.013537	0	0
UPF2	26019	broad.mit.edu	37	10	11978664	11978664	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:11978664A>C	ENST00000356352.2	-	18	3899	c.3426T>G	c.(3424-3426)atT>atG	p.I1142M	UPF2_ENST00000357604.5_Missense_Mutation_p.I1142M|UPF2_ENST00000397053.2_Missense_Mutation_p.I1142M			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1142	Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	p.I1142M(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GATGCAAAGGAATGGCAACAT	0.433000													30	66					0	0	0.010818	0	0
HPS6	79803	broad.mit.edu	37	10	103826164	103826164	+	Silent	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:103826164G>C	ENST00000299238.5	+	1	1018	c.933G>C	c.(931-933)ccG>ccC	p.P311P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	311						cytosol|early endosome membrane|endoplasmic reticulum|microsome		p.P311P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTGTAGGCCCGTGGGGGTCTG	0.642000									Hermansky-Pudlak syndrome				29	61					0	0	0.009535	0	0
ZNF669	79862	broad.mit.edu	37	1	247267335	247267335	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:247267335C>T	ENST00000343381.6	-	1	339	c.167G>A	c.(166-168)gGg>gAg	p.G56E	ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000358785.4_Missense_Mutation_p.G56E|ZNF669_ENST00000448299.2_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G56E(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CGCTgcccgccccgcccggcc	0.726000													3	11					0	0	0.009096	0	0
CDH6	1004	broad.mit.edu	37	5	31305419	31305419	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:31305419C>G	ENST00000265071.2	+	7	1403	c.1138C>G	c.(1138-1140)Cca>Gca	p.P380A	CDH6_ENST00000514738.1_Missense_Mutation_p.P325A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	380	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.P380A(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						TGTAGATGAGCCACCTGTCTT	0.473000													5	109					0	0	0.000602	0	0
MYOM3	127294	broad.mit.edu	37	1	24400733	24400733	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:24400733C>A	ENST00000330966.7	-	23	3050	c.2888G>T	c.(2887-2889)gGc>gTc	p.G963V	MYOM3_ENST00000329601.7_Missense_Mutation_p.G962V|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.G962V|RP11-293P20.4_ENST00000429191.1_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	962								p.G962V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATCCTCGAGGCCGGGTTCTTT	0.587000													46	94					1.23713e-20	1.72644e-20	0.014410	1	0
GRIA2	2891	broad.mit.edu	37	4	158284035	158284035	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:158284035G>A	ENST00000296526.7	+	15	2816	c.2491G>A	c.(2491-2493)Gct>Act	p.A831T	GRIA2_ENST00000264426.9_Missense_Mutation_p.A831T|GRIA2_ENST00000449365.1_Missense_Mutation_p.A784T|GRIA2_ENST00000507898.1_Missense_Mutation_p.A784T|GRIA2_ENST00000393815.2_Missense_Mutation_p.A784T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	831					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A831T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AATGCTGGTGGCTTTGATTGA	0.468000													27	74					0	0	0.006320	0	0
TLL1	7092	broad.mit.edu	37	4	167012328	167012328	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:167012328C>A	ENST00000061240.2	+	19	3138	c.2491C>A	c.(2491-2493)Cac>Aac	p.H831N	TLL1_ENST00000507499.1_Missense_Mutation_p.H854N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	831	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H831N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGCTTATGACCACTTAGAAGT	0.338000													20	50					3.6726e-16	4.95868e-16	0.003954	1	0
CHERP	10523	broad.mit.edu	37	19	16631280	16631280	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:16631280C>T	ENST00000546361.2	-	14	2391	c.2240G>A	c.(2239-2241)gGg>gAg	p.G747E	CHERP_ENST00000198939.6_Missense_Mutation_p.G758E|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	747	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.G747E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGAAGAACGCCCTCGACTCTT	0.627000													24	222					0	0	0.003954	0	0
REEP1	65055	broad.mit.edu	37	2	86459766	86459766	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:86459766C>G	ENST00000165698.5	-	6	720	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	REEP1_ENST00000541910.1_Silent_p.L114L|REEP1_ENST00000540790.1_Missense_Mutation_p.E172Q|REEP1_ENST00000538924.1_Missense_Mutation_p.E200Q|REEP1_ENST00000535845.1_Missense_Mutation_p.E166Q	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	193					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	p.E193Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTAGCGCTCTCAGAAGCACTC	0.647000													18	38					0	0	0.008871	0	0
WDR35	57539	broad.mit.edu	37	2	20131061	20131061	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:20131061T>A	ENST00000345530.3	-	25	3081	c.2966A>T	c.(2965-2967)cAg>cTg	p.Q989L	WDR35_ENST00000281405.4_Missense_Mutation_p.Q978L|WDR35_ENST00000416055.2_Missense_Mutation_p.Q462L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	989								p.Q989L(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCCTCGCTGGGCATTCTT	0.343000													31	50					0	0	0.010818	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38162187	38162187	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:38162187G>A	ENST00000317025.8	-	14	3046	c.2529C>T	c.(2527-2529)taC>taT	p.Y843Y	WHSC1L1_ENST00000433384.2_Silent_p.Y843Y|WHSC1L1_ENST00000527502.1_Silent_p.Y843Y	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	843					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	p.Y843Y(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGATGAGAATGTAGGAGGATA	0.438000			T	NUP98	AML								31	126					0	0	0.009535	0	0
OR4S2	219431	broad.mit.edu	37	11	55418741	55418741	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:55418741A>T	ENST00000312422.2	+	1	362	c.362A>T	c.(361-363)tAt>tTt	p.Y121F		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y121F(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATGATCGTTATGTGGCTATC	0.428000													56	203					0	0	0.014410	0	0
PFKFB3	5209	broad.mit.edu	37	10	6262674	6262674	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:6262674G>T	ENST00000379775.4	+	8	1007	c.677G>T	c.(676-678)cGg>cTg	p.R226L	PFKFB3_ENST00000379782.3_Missense_Mutation_p.R226L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.R226L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.R226L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R206L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000317350.4_Missense_Mutation_p.R226L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R240L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	226	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.R226L(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CTGGTGAACCGGGTGCAGGAC	0.612000													46	130					4.64027e-19	6.38036e-19	0.014410	1	0
FIP1L1	81608	broad.mit.edu	37	4	54294193	54294193	+	Splice_Site	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:54294193G>T	ENST00000337488.6	+	13	1211		c.e13-1		FIP1L1_ENST00000358575.5_Splice_Site|FIP1L1_ENST00000507922.1_Splice_Site|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Splice_Site	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing	nucleus	RNA binding	p.?(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTAATTTTAGGTCCTTTCTG	0.348000			T	PDGFRA	idiopathic hypereosinophilic syndrome								10	37					9.70103e-10	1.17038e-09	0.008291	1	0
ITGA10	8515	broad.mit.edu	37	1	145533105	145533105	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:145533105G>A	ENST00000369304.3	+	11	1375	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	ITGA10_ENST00000539363.1_Silent_p.V257V|ITGA10_ENST00000538811.1_Silent_p.V269V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	400					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.V400V(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGCTCTGTGCTATGGCTTG	0.572000													28	83					0	0	0.010818	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249118957	249118957	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:249118957T>A	ENST00000366472.5	-	2	1407	c.178A>T	c.(178-180)Ata>Tta	p.I60L	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	60								p.I60L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTCACCTGTATTCTAGGATCC	0.552000													71	306					0	0	0.014410	0	0
GLIS3	169792	broad.mit.edu	37	9	3932421	3932421	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:3932421G>A	ENST00000324333.10	-	5	1650	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	GLIS3_ENST00000381971.3_Missense_Mutation_p.P641L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	486					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	p.P641L(1)|p.P486L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TAGGGAACTTGGGTCTGTGTA	0.378000													51	191					0	0	0.014410	0	0
TBX3	6926	broad.mit.edu	37	12	115120648	115120648	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:115120648C>A	ENST00000349155.2	-	1	1321	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C	TBX3_ENST00000257566.3_Missense_Mutation_p.G120C	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	120					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.G120C(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATCTCGGTGCCCCGCTTGTGA	0.542000													11	50					2.27111e-07	2.61352e-07	0.013537	1	0
PCDH10	57575	broad.mit.edu	37	4	134073342	134073342	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:134073342G>C	ENST00000264360.4	+	1	2873	c.2047G>C	c.(2047-2049)Gtg>Ctg	p.V683L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	683	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V683L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGATGGCGCCGTGGAGCCCCA	0.716000													4	40					0	0	0.001168	0	0
MYO15A	51168	broad.mit.edu	37	17	18022483	18022483	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:18022483C>T	ENST00000205890.5	+	2	707	c.369C>T	c.(367-369)cgC>cgT	p.R123R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	123	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R123R(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCGGCCGCGCGCCCGGTCAC	0.642000													5	14					0	0	0.001168	0	0
CARKD	55739	broad.mit.edu	37	13	111274657	111274657	+	Silent	SNP	T	T	A	rs142423406	byFrequency	TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:111274657T>A	ENST00000309957.2	+	2	209	c.195T>A	c.(193-195)tcT>tcA	p.S65S	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000397191.4_Silent_p.S47S	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	65	YjeF C-terminal.							p.S65S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CTCCTCTGTCTTCCACAAAGC	0.418000													17	70					0	0	0.010504	0	0
TRPM1	4308	broad.mit.edu	37	15	31294908	31294908	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr15:31294908T>C	ENST00000542188.1	-	27	4359	c.4046A>G	c.(4045-4047)aAg>aGg	p.K1349R	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.K1332R|TRPM1_ENST00000397795.2_Missense_Mutation_p.K1310R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1310					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.K1310R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTTCACGTCCTTCTCTTCCTT	0.468000													67	108					0	0	0.014410	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170344	107170344	+	RNA	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:107170344G>A	ENST00000390633.2	-	0	84																											CCACCACAAAGAGGAACCTCC	0.512000													16	81					0	0	0.005443	0	0
PROM2	150696	broad.mit.edu	37	2	95941810	95941810	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:95941810G>A	ENST00000317620.9	+	3	560	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Missense_Mutation_p.E143K|PROM2_ENST00000403131.2_Missense_Mutation_p.E143K|PROM2_ENST00000317668.4_Missense_Mutation_p.E143K	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	143						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.E143K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGTGAAGACAGAGCACAAGGC	0.692000													4	36					0	0	0.001168	0	0
XPO5	57510	broad.mit.edu	37	6	43538674	43538674	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:43538674C>T	ENST00000265351.7	-	4	568	c.358G>A	c.(358-360)Gta>Ata	p.V120I		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	120					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	p.V120I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ATTTCCACTACAATTCGAGAC	0.398000													41	75					0	0	0.007835	0	0
RSBN1	54665	broad.mit.edu	37	1	114309076	114309076	+	Splice_Site	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:114309076C>T	ENST00000261441.5	-	7	1999		c.e7-1		RSBN1_ENST00000369581.2_Splice_Site	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1							nucleus		p.?(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGTACGCACTGAAGAAAGA	0.343000													24	28					0	0	0.002780	0	0
NOC4L	79050	broad.mit.edu	37	12	132636667	132636667	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:132636667C>T	ENST00000330579.1	+	14	1397	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	NOC4L_ENST00000538784.1_Silent_p.A67A	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	452					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	p.A453S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TGTCCAAAGCCGCCAGCGTCA	0.687000													15	21					0	0	0.004007	0	0
C16orf90	646174	broad.mit.edu	37	16	3544801	3544801	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:3544801G>A	ENST00000437192.3	-	2	125	c.123C>T	c.(121-123)tcC>tcT	p.S41S	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	31								p.S41S(1)		large_intestine(1)	1						GCGGCTGCGGGGACCCCAGGC	0.711000													6	31					0	0	0.006214	0	0
HOXA3	3200	broad.mit.edu	37	7	27147988	27147988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:27147988G>T	ENST00000396352.4	-	3	1077	c.878C>A	c.(877-879)tCg>tAg	p.S293*	HOXA3_ENST00000317201.2_Nonsense_Mutation_p.S293*|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	293					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S293*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGGCGGGGGCGACTGGGGCTC	0.711000													8	71					0.00829132	0.00856617	0.008291	1	0
WARS2	10352	broad.mit.edu	37	1	119575582	119575582	+	Silent	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:119575582T>C	ENST00000235521.4	-	6	1061	c.1035A>G	c.(1033-1035)ttA>ttG	p.L345L	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Silent_p.L251L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	345					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.L345L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAGTGTATGCTAATTCTTTGG	0.413000													55	139					0	0	0.014410	0	0
KIF13A	63971	broad.mit.edu	37	6	17817334	17817334	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:17817334C>G	ENST00000378814.5	-	17	1916	c.1917G>C	c.(1915-1917)agG>agC	p.R639S	KIF13A_ENST00000259711.6_Missense_Mutation_p.R639S|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378816.5_Missense_Mutation_p.R639S|KIF13A_ENST00000378826.2_Missense_Mutation_p.R639S|KIF13A_ENST00000378843.2_Missense_Mutation_p.R639S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	639					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.R639S(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTGTGGCTGCCTGTCGGGGG	0.597000													4	13					0	0	0.009096	0	0
KLF6	1316	broad.mit.edu	37	10	3821782	3821782	+	Splice_Site	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr10:3821782C>T	ENST00000497571.1	-	4	1061	c.800_splice	c.e4-1	p.R267_splice	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Splice_Site_p.G226_splice	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	267					B cell differentiation	nucleus	zinc ion binding	p.R267R(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGGAAAAACACCTGCAAGGGC	0.577000													10	53					0	0	0.013537	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534188	90534188	+	RNA	SNP	C	C	A	rs138369848		TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:90534188C>A	ENST00000602681.1	+	0	934																											TGTCTCCCAGCGTCATCTTGT	0.612000													8	106					1.12685e-05	1.25804e-05	0.004482	1	0
THBS2	7058	broad.mit.edu	37	6	169648695	169648695	+	Silent	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:169648695G>T	ENST00000366787.3	-	4	675	c.426C>A	c.(424-426)gtC>gtA	p.V142V		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	142	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.V142V(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGCCAGGCCGACGTCCTCCA	0.637000													28	70					4.3181e-19	5.9593e-19	0.013726	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140773060	140773060	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:140773060G>A	ENST00000398604.2	+	1	680	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1												p.R227H(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAGTGCGCATCCACGTG	0.612000													44	65					0	0	0.010771	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956587	50956587	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr22:50956587C>T	ENST00000395701.3	+	7	620	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R176W|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R176W|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R176W			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	176					chromosome condensation	chromosome|nucleus		p.R176W(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCTGGCCAGCCGGAAGGATTT	0.642000													21	46					0	0	0.012319	0	0
TNFRSF12A	51330	broad.mit.edu	37	16	3071600	3071600	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:3071600C>T	ENST00000575124.1	+	2	430	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TNFRSF12A_ENST00000326577.4_Missense_Mutation_p.L82F|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.L33F|TNFRSF12A_ENST00000341627.5_Missense_Mutation_p.L47F			Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	0					angiogenesis|apoptosis	integral to membrane	receptor activity	p.L82F(1)		lung(1)|skin(1)	2						TTGGCCCATCCTTGGGGGCGC	0.662000											OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	52					0	0	0.006214	0	0
USP29	57663	broad.mit.edu	37	19	57640928	57640928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr19:57640928C>A	ENST00000254181.4	+	4	1339	c.885C>A	c.(883-885)taC>taA	p.Y295*	USP29_ENST00000598197.1_Nonsense_Mutation_p.Y295*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	295					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.Y295*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACACCTGTTACATGAATGCAG	0.463000													20	45					0.000175454	0.000188023	0.010504	1	0
EDC4	23644	broad.mit.edu	37	16	67913844	67913844	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:67913844G>A	ENST00000358933.5	+	16	2152	c.1913G>A	c.(1912-1914)aGc>aAc	p.S638N		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	638	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.S638N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCATGAGCAGCACCTCAGCT	0.612000													17	46					0	0	0.006122	0	0
HBE1	3046	broad.mit.edu	37	11	5290732	5290732	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:5290732C>T	ENST00000380237.1	-	4	611	c.267G>A	c.(265-267)ctG>ctA	p.L89L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.L89L			P02100	HBE_HUMAN	hemoglobin, epsilon 1	89					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.L89L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTCACTCAGCTTAGCAA	0.468000													32	84					0	0	0.003271	0	0
RNF43	54894	broad.mit.edu	37	17	56439904	56439904	+	Splice_Site	SNP	C	C	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:56439904C>G	ENST00000584437.1	-	5	2643		c.e5+1		RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000583753.1_Splice_Site|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000500597.2_Splice_Site			Q68DV7	RNF43_HUMAN	ring finger protein 43							endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.?(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACACTGCTCACCGGCCTGCTG	0.582000													15	67					0	0	0.004289	0	0
ATP12A	479	broad.mit.edu	37	13	25285542	25285542	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr13:25285542C>A	ENST00000218548.6	+	22	3437	c.3104C>A	c.(3103-3105)cCt>cAt	p.P1035H	ATP12A_ENST00000381946.3_Missense_Mutation_p.P1029H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	1029					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.P1029H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGGCTCTACCCTGGAAGTGAG	0.502000													6	24					0.000157383	0.000169142	0.003080	1	0
HELZ2	85441	broad.mit.edu	37	20	62202177	62202177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr20:62202177G>T	ENST00000467148.1	-	2	392	c.323C>A	c.(322-324)tCa>tAa	p.S108*	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator									p.S108*(1)									CTCCTGTGCTGAGTGTGCCTT	0.692000													6	22					0.00307968	0.00320836	0.003080	1	0
TRIM40	135644	broad.mit.edu	37	6	30113788	30113788	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:30113788G>A	ENST00000396581.1	+	3	749	c.363G>A	c.(361-363)cgG>cgA	p.R121R	TRIM40_ENST00000307859.4_Silent_p.R121R|TRIM40_ENST00000376724.2_Silent_p.R121R			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	121						intracellular	zinc ion binding	p.R121R(1)		ovary(1)	1						TCAATCGCCGGAGCAGGAAGC	0.572000													15	31					0	0	0.006122	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57992021	57992021	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:57992021G>C	ENST00000225577.4	+	4	359	c.338G>C	c.(337-339)gGa>gCa	p.G113A	RPS6KB1_ENST00000443572.2_Intron|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.G113A|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.G60A	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	113	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	p.G113A(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AAAGTAACAGGAGCAAATACT	0.358000													35	109					0	0	0.006999	0	0
CAPN5	726	broad.mit.edu	37	11	76834862	76834862	+	Silent	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:76834862G>A	ENST00000278559.3	+	13	2058	c.1869G>A	c.(1867-1869)ctG>ctA	p.L623L	CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000456580.2_Silent_p.L663L|CAPN5_ENST00000529629.1_Silent_p.L623L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	623					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.L623L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCAGCAACCTGCCAGGCACTG	0.622000													28	98					0	0	0.010818	0	0
MANEA	79694	broad.mit.edu	37	6	96034410	96034410	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:96034410A>G	ENST00000358812.4	+	2	229	c.95A>G	c.(94-96)aAt>aGt	p.N32S	MANEA_ENST00000369293.1_Missense_Mutation_p.N32S	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	32					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	p.N32S(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CTGAGACCAAATACAGCTACT	0.368000													9	83					0	0	0.004482	0	0
NECAB1	64168	broad.mit.edu	37	8	91962079	91962079	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:91962079A>G	ENST00000417640.2	+	11	1242	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	NECAB1_ENST00000521366.1_Missense_Mutation_p.Y51C|NECAB1_ENST00000522820.1_Missense_Mutation_p.Y51C	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	302	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.Y302C(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TACATGATCTATGAGTTCTGG	0.348000													7	12					0	0	0.004482	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712593	140712593	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:140712593G>T	ENST00000517417.1	+	1	2342	c.2342G>T	c.(2341-2343)aGc>aTc	p.S781I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S781I	NM_018912.2	NP_061735.1												p.S781I(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTCATCAGCCAGGAGAGC	0.493000													20	149					1.10513e-12	1.40585e-12	0.014323	1	0
PBRM1	55193	broad.mit.edu	37	3	52651531	52651531	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:52651531C>A	ENST00000356770.4	-	13	1471	c.1469G>T	c.(1468-1470)cGa>cTa	p.R490L	PBRM1_ENST00000410007.1_Missense_Mutation_p.R522L|PBRM1_ENST00000409114.3_Missense_Mutation_p.R537L|PBRM1_ENST00000409057.1_Missense_Mutation_p.R522L|PBRM1_ENST00000394830.3_Missense_Mutation_p.R522L|PBRM1_ENST00000409767.1_Missense_Mutation_p.R537L|PBRM1_ENST00000296302.7_Missense_Mutation_p.R522L|PBRM1_ENST00000337303.4_Missense_Mutation_p.R522L			Q86U86	PB1_HUMAN	polybromo 1	522					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R522L(2)|p.R490L(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GATTTTCATTCGCTGCTTTCT	0.363000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								26	54					9.39395e-14	1.2115e-13	0.006320	1	0
NCKIPSD	51517	broad.mit.edu	37	3	48719041	48719041	+	Silent	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr3:48719041T>C	ENST00000294129.2	-	5	890	c.771A>G	c.(769-771)caA>caG	p.Q257Q	NCKIPSD_ENST00000341520.4_Silent_p.Q257Q|NCKIPSD_ENST00000416649.2_Silent_p.Q250Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	257	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	p.Q257Q(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGGCTGGACTTGGGACACGG	0.627000													29	57					0	0	0.013726	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453478	22453478	+	RNA	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr22:22453478A>G	ENST00000390283.2	+	0	270																											ACGCTCATCTACAGCACAAAC	0.582000													68	85					0	0	0.014410	0	0
OR1S2	219958	broad.mit.edu	37	11	57971146	57971146	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:57971146G>T	ENST00000302592.6	-	1	507	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L170I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GTGTGTGTAAGAGCAATAATA	0.493000													33	238					2.58029e-29	3.72597e-29	0.009718	1	0
AFF2	2334	broad.mit.edu	37	X	147919249	147919249	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrX:147919249C>T	ENST00000370460.2	+	5	1644	c.1165C>T	c.(1165-1167)Cca>Tca	p.P389S	AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000342251.3_Intron|AFF2_ENST00000370457.5_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	389					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P389S(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTCCATCCCAGGACAGGT	0.433000													21	19					0	0	0.012319	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716257	39716257	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr14:39716257A>G	ENST00000553728.1	+	4	692	c.479A>G	c.(478-480)cAg>cGg	p.Q160R	MIA2_ENST00000556784.1_Missense_Mutation_p.Q159R|MIA2_ENST00000280082.3_Missense_Mutation_p.Q160R														p.Q160R(1)									AGTGATTTTCAGATAGAACCT	0.323000													16	47					0	0	0.004990	0	0
OR10A3	26496	broad.mit.edu	37	11	7960723	7960723	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:7960723C>T	ENST00000360759.3	-	1	418	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115L(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATCGCTCCCAGGAGAAAAC	0.403000													53	89					0	0	0.014410	0	0
AMPH	273	broad.mit.edu	37	7	38514960	38514960	+	Silent	SNP	T	T	C			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:38514960T>C	ENST00000356264.2	-	7	776	c.561A>G	c.(559-561)ttA>ttG	p.L187L	AMPH_ENST00000325590.5_Silent_p.L187L|AMPH_ENST00000428293.2_Silent_p.L187L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	187	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.L187L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTCTTCTTGTAAGTCAACGT	0.338000													6	29					0	0	0.001168	0	0
INTS12	57117	broad.mit.edu	37	4	106621161	106621161	+	Translation_Start_Site	SNP	A	A	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:106621161A>G	ENST00000451321.2	-	2	481	c.2T>C	c.(1-3)aTg>aCg	p.M1T	INTS12_ENST00000394735.1_Start_Codon_SNP_p.M1T|INTS12_ENST00000340139.5_Start_Codon_SNP_p.M1T	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	1					snRNA processing	integrator complex	protein binding|zinc ion binding	p.M1T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGTAGCAGCCATTGCAAACGC	0.328000													45	121					0	0	0.014410	0	0
OR10C1	442194	broad.mit.edu	37	6	29408140	29408140	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr6:29408140C>T	ENST00000444197.2	+	1	1058	c.348C>T	c.(346-348)gcC>gcT	p.A116A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116A(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTGGCAGCCATGGCCTATG	0.617000													32	43					0	0	0.003755	0	0
MYO7A	4647	broad.mit.edu	37	11	76900500	76900500	+	Silent	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:76900500C>T	ENST00000409709.3	+	28	3887	c.3615C>T	c.(3613-3615)tcC>tcT	p.S1205S	MYO7A_ENST00000409619.2_Silent_p.S1194S|MYO7A_ENST00000458637.2_Silent_p.S1205S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1205	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S1205S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCGCCCCCTCCGAGAAGTTTG	0.622000													8	139					0	0	0.003080	0	0
KCNV2	169522	broad.mit.edu	37	9	2719074	2719074	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:2719074C>A	ENST00000382082.3	+	1	1573	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	445						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P445P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTACCATCCCCCACTCCTGGT	0.607000													20	106					3.62473e-10	4.40146e-10	0.012319	1	0
EPX	8288	broad.mit.edu	37	17	56270748	56270748	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:56270748C>T	ENST00000225371.5	+	3	297	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	63					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R63C(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCAGCGGCTTCGCAGCGGTTC	0.612000													30	258					0	0	0.013726	0	0
TDRD7	23424	broad.mit.edu	37	9	100190940	100190940	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr9:100190940A>T	ENST00000355295.4	+	2	488	c.193A>T	c.(193-195)Agt>Tgt	p.S65C	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	65	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	p.S65C(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GATAGAGACTAGTAGATCTGG	0.463000													19	59					0	0	0.014323	0	0
CSMD1	64478	broad.mit.edu	37	8	2820157	2820157	+	Silent	SNP	C	C	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr8:2820157C>A	ENST00000602557.1	-	62	10017	c.9462G>T	c.(9460-9462)gtG>gtT	p.V3154V	CSMD1_ENST00000537824.1_Silent_p.V3153V|CSMD1_ENST00000400186.3_Silent_p.V2977V|CSMD1_ENST00000542608.1_Silent_p.V2976V|CSMD1_ENST00000602723.1_Silent_p.V2977V|CSMD1_ENST00000520002.1_Silent_p.V3154V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3154	Sushi 26.					integral to membrane		p.V3153V(1)|p.V2882V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCGCAGAACACAGCTATGG	0.458000													12	17					6.31663e-08	7.38256e-08	0.003163	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3390029	3390029	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:3390029G>A	ENST00000378378.4	+	8	1653	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.M128I|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.M120I|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.M128I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	416	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	p.M128I(1)|p.M120I(1)|p.M416I(1)		lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCTGCCCATGCTCTCCTTCC	0.662000													18	55					0	0	0.012213	0	0
SPRR4	163778	broad.mit.edu	37	1	152944454	152944454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:152944454delC	ENST00000328051.2	+	2	137	c.88delC	c.(88-90)ccfs	p.P31fs		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	31	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTCAGCCACCCCCTGTTAA	0.572													74	165	---	---	---	---					
KCTD3	51133	broad.mit.edu	37	1	215781360	215781374	+	Splice_Site	DEL	CTGTGCAGATAATAA	CTGTGCAGATAATAA	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:215781360_215781374delCTGTGCAGATAATAA	ENST00000259154.4	+	14	1605_1619	c.1309_splice	c.e14-1	p.VCADNN437_splice		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	437						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTCTGCTAGTCTGTGCAGATAATAATCATGTCCGG	0.367													7	54	---	---	---	---					
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479	by1000genomes	TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)cttfs	p.L18fs						olfactory receptor, family 2, subfamily T, member 7																		TTCCCCTGGCTTCTTTGCCCTC	0.515													4	3	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179501461	179501462	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr2:179501461_179501462insA	ENST00000589042.1	-	225	41216_41217	c.40992_40993insT	c.(40990-40995)gggagafs	p.R13665fs	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.R12024fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.R4792fs|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.R4600fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.R4725fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.R11097fs|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12024	Ig-like 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTCTCTCCACCACTTCCTG	0.421													24	57	---	---	---	---					
CLCN3	1182	broad.mit.edu	37	4	170610353	170610353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr4:170610353delG	ENST00000513761.1	+	5	1137	c.578delG	c.(577-579)tgfs	p.W193fs	CLCN3_ENST00000504131.2_Frame_Shift_Del_p.W176fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.W193fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.W193fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	193					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGGAAAACATGGGCAGAATTA	0.363													23	136	---	---	---	---					
SLC26A2	1836	broad.mit.edu	37	5	149360432	149360434	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:149360432_149360434delATC	ENST00000286298.4	+	3	1544_1546	c.1276_1278delATC	c.(1276-1278)del	p.I427del		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	427						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTTTTGTAATATCATCCCTTCCT	0.404													13	64	---	---	---	---					
OR2V2	285659	broad.mit.edu	37	5	180582227	180582228	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr5:180582227_180582228delTG	ENST00000328275.1	+	1	285_286	c.285_286delTG	c.(283-288)tttgfs	p.FV95fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCTCCTTTGTGGGCTGTGG	0.530													84	175	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100190489	100190489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:100190489delT	ENST00000241071.6	+	5	964	c.642delT	c.(640-642)ggfs	p.G214fs	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Frame_Shift_Del_p.G200fs|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Del_p.G252fs|FBXO24_ENST00000465843.1_Frame_Shift_Del_p.G200fs|FBXO24_ENST00000468962.1_Frame_Shift_Del_p.G202fs	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	214						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AAGTGGTGGGTACCACCAGCA	0.552													32	42	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100675680	100675681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:100675680_100675681insT	ENST00000306151.4	+	3	1047_1048	c.983_984insT	c.(982-984)atafs	p.I328fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	328	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTTATACTGAAG	0.480													38	433	---	---	---	---					
IQUB	154865	broad.mit.edu	37	7	123101441	123101441	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:123101441delT	ENST00000466202.1	-	11	2553	c.1977delA	c.(1975-1977)gafs	p.E659fs	IQUB_ENST00000324698.6_Frame_Shift_Del_p.E659fs			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	659										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TAGAATCATCTTCATAATCAG	0.363													20	155	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133059653	133059654	+	Frame_Shift_Ins	INS	-	-	G			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr7:133059653_133059654insG	ENST00000253861.4	+	7	1108_1109	c.1079_1080insG	c.(1078-1080)cggfs	p.R360fs	EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.R259fs|EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.R360fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	360					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCTGTGGTCCTGGGATACCTGC	0.431													32	101	---	---	---	---					
OR51S1	119692	broad.mit.edu	37	11	4869784	4869784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr11:4869784delG	ENST00000322101.2	-	1	730	c.655delC	c.(655-657)tgfs	p.L220fs	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATAAGCAGGGGGTCCAAA	0.537													33	120	---	---	---	---					
BIN2	51411	broad.mit.edu	37	12	51685752	51685776	+	Frame_Shift_Del	DEL	GCTGCCCTGAAGGGCTCAGGGCTCC	GCTGCCCTGAAGGGCTCAGGGCTCC	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:51685752_51685776delGCTGCCCTGAAGGGCTCAGGGCTCC	ENST00000267012.4	-	10	1175_1199	c.1114_1138delGGAGCCCTGAGCCCTTCAGGGCAGC	c.(1114-1140)ctfs	p.GALSPSGQP372fs	BIN2_ENST00000452142.2_Frame_Shift_Del_p.GALSPSGQP340fs|BIN2_ENST00000544402.1_Frame_Shift_Del_p.GALSPSGQP346fs|BIN2_ENST00000604560.1_Frame_Shift_Del_p.GALSPSGQP345fs	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	372						cytoplasm	protein binding	p.G372R(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GATGATGAAGGCTGCCCTGAAGGGCTCAGGGCTCCGCCTGGTGAT	0.600													12	83	---	---	---	---					
WSCD2	9671	broad.mit.edu	37	12	108603914	108603914	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr12:108603914delG	ENST00000332082.4	+	5	1332	c.514delG	c.(514-516)ggfs	p.G172fs	WSCD2_ENST00000549903.1_Frame_Shift_Del_p.G172fs|WSCD2_ENST00000547525.1_Frame_Shift_Del_p.G172fs|WSCD2_ENST00000261400.3_Frame_Shift_Del_p.G172fs			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	172	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCTGTATGGCGGGCTGGAGTT	0.647													13	49	---	---	---	---					
TNP2	7142	broad.mit.edu	37	16	11362767	11362768	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr16:11362767_11362768insT	ENST00000312693.3	-	1	421_422	c.352_353insA	c.(352-354)ggcfs	p.G118fs	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	118					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CCTCTTGGCCATTTTTTTCTTT	0.550													7	82	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578246	7578247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr17:7578246_7578247insA	ENST00000420246.2	-	6	734_735	c.602_603insT	c.(601-603)tcgfs	p.S201fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.S201fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S201fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S201fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S201fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S201fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	201	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L201F(7)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.P191fs*6(1)|p.L201*(1)|p.L201_R202>FC(1)|p.G199fs*42(1)|p.R202fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACTCCACACGCAAATTTCCTTC	0.550		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	37	---	---	---	---					
DYRK1A	1859	broad.mit.edu	37	21	38884551	38884551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr21:38884551delC	ENST00000339659.3	+	11	3452	c.1982delC	c.(1981-1983)tcfs	p.S662fs	DYRK1A_ENST00000455387.2_Frame_Shift_Del_p.S443fs|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Frame_Shift_Del_p.S671fs	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	671	Ser/Thr-rich.				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			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						ACATCTTCCTCCTCTACTGGT	0.498													28	172	---	---	---	---					
MYO18B	84700	broad.mit.edu	37	22	26299684	26299684	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr22:26299684delG	ENST00000335473.7	+	31	5284	c.5034delG	c.(5032-5034)ctfs	p.L1678fs	MYO18B_ENST00000536101.1_Frame_Shift_Del_p.L1678fs|MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000407587.2_Frame_Shift_Del_p.L1679fs	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1678	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCCTCTCTGGGGGAAAATT	0.537													9	16	---	---	---	---					
ELFN2	114794	broad.mit.edu	37	22	37771193	37771193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chr22:37771193delG	ENST00000402918.1	-	3	1167	c.382delC	c.(382-384)gcfs	p.R128fs	ELFN2_ENST00000349653.3_Frame_Shift_Del_p.R128fs|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	128						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AACTGCAGGCGGCTCATGCCT	0.632													37	100	---	---	---	---					
ZNF280C	55609	broad.mit.edu	37	X	129349794	129349795	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4629-01A-02D-1265-08	TCGA-38-4629-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4797f969-5f4d-4681-9fc5-68f25ba8f4d8	c89000a1-93c2-46b3-82b2-f90361e2fc5e	g.chrX:129349794_129349795insT	ENST00000370978.4	-	14	1961_1962	c.1808_1809insA	c.(1807-1809)aaafs	p.K603fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGCTCATTTTATTTTTTCTGTT	0.322													7	160	---	---	---	---					
