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
FAM66D	100132923	broad.mit.edu	37	8	11986659	11986659	+	RNA	SNP	C	C	T	rs61256223	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:11986659C>T	ENST00000434078.2	+	0	608					NR_027425.1																						TCACAGAGGTCGACACGGGTC	0.547000													12	38					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745467	135745467	+	Silent	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:135745467T>C	ENST00000375845.3	-	7	1005	c.975A>G	c.(973-975)gaA>gaG	p.E325E	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.E342E|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.E212E	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ACTGCCCTTTTTCAAAGTGAG	0.398000													35	63					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539836	111539836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:111539836G>A	ENST00000394595.3	-	4	448	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Silent_p.F140F|PITX2_ENST00000354925.2_Silent_p.F133F|PITX2_ENST00000355080.5_Silent_p.F87F|PITX2_ENST00000394598.2_Silent_p.F133F			Q99697	PITX2_HUMAN	paired-like homeodomain 2	65					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACGATTCTTGAACCAAACCT	0.587000													19	97					0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863838	64863838	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:64863838C>T	ENST00000313349.3	-	2	465	c.168G>A	c.(166-168)gaG>gaA	p.E56E	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	56	SERTA.				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GCAAGCTGGGCTCTGTCAGGG	0.507000													89	172					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516169	140516169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140516169C>T	ENST00000231134.5	+	1	1370	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		385	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATCCAGAATGATCT	0.483000													26	61					0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61627430	61627430	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:61627430G>A	ENST00000526932.1	+	2	158	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	HMSD_ENST00000408945.3_Silent_p.T87T|HMSD_ENST00000481726.1_3'UTR			A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	0						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ACCAAGCAACGATAAAACAGC	0.353000													28	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431647	179431647	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:179431647G>A	ENST00000589042.1	-	326	79436	c.79212C>T	c.(79210-79212)acC>acT	p.T26404T	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.T24763T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.T17464T|TTN_ENST00000342992.6_Silent_p.T23836T|TTN_ENST00000342175.6_Silent_p.T17531T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.T17339T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24763	Ig-like 127.						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)			TCCAACAGACGGTCATGGAGT	0.408000													57	167					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262400	45262400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:45262400C>T	ENST00000303230.4	-	8	2353	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	766						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGTGCACTTCATTTTTCGGC	0.657000													38	19					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101873	9101873	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:9101873C>T	ENST00000377424.4	-	5	721	c.542G>A	c.(541-543)gGt>gAt	p.G181D	SLC2A5_ENST00000536305.1_Missense_Mutation_p.G122D|SLC2A5_ENST00000377414.3_Missense_Mutation_p.G181D|SLC2A5_ENST00000535586.1_Missense_Mutation_p.G66D	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	181					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCGAAGACCAAAGATCTG	0.577000													31	71					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405532	40405532	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:40405532T>G	ENST00000542756.1	-	3	1933	c.1910A>C	c.(1909-1911)aAg>aCg	p.K637T	SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.K637T|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.K637T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.K637T|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	637					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCCACCTTTCTTCTCACTCAT	0.507000													17	319					0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2065650	2065650	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:2065650C>T	ENST00000423729.2	+	3	705	c.705C>T	c.(703-705)ttC>ttT	p.F235F	NAT8L_ENST00000331662.3_Silent_p.F67F	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	235	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGCTGGAGTTCGCCGTGGTGC	0.652000													13	20					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94120193	94120193	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:94120193G>A	ENST00000553484.1	+	38	6526	c.6372G>A	c.(6370-6372)acG>acA	p.T2124T	UNC79_ENST00000555664.1_Silent_p.T2063T|UNC79_ENST00000256339.4_Silent_p.T1925T|UNC79_ENST00000393151.2_Silent_p.T2102T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2102						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCAAAGCACGATCAAAGGTA	0.547000													130	235					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030997	33030997	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:33030997G>A	ENST00000340811.4	-	3	925	c.817C>T	c.(817-819)Ccg>Tcg	p.P273S	PKP2_ENST00000070846.6_Missense_Mutation_p.P273S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	273					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGCACCAGCGGCCTGACCTGC	0.662000													30	53					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10708096	10708096	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:10708096G>A	ENST00000377022.3	-	16	3576	c.3259C>T	c.(3259-3261)Cct>Tct	p.P1087S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.P1087S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1087	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGACCGGAGGGGACGAGGGG	0.692000													10	13					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151927076	151927076	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:151927076C>T	ENST00000355193.2	-	18	3126	c.2908G>A	c.(2908-2910)Gca>Aca	p.A970T	KMT2C_ENST00000262189.6_Missense_Mutation_p.A970T					lysine (K)-specific methyltransferase 2C																		CTTCCTTCTGCTCCTTGGCCA	0.353000													39	854					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977722	70977722	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:70977722C>T	ENST00000393567.2	-	42	6812	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2221										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCTGTATCCGCTCTGCCAG	0.617000													14	36					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53607976	53607976	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:53607976G>A	ENST00000342160.3	-	42	5988	c.5531C>T	c.(5530-5532)tCa>tTa	p.S1844L	HUWE1_ENST00000262854.6_Missense_Mutation_p.S1844L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1844					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTAGCTGCTGAGCGAACAAC	0.468000													12	7					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404584	91404584	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:91404584G>A	ENST00000370440.1	-	3	2544	c.2327C>T	c.(2326-2328)tCa>tTa	p.S776L	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S776L|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACTTGATGATGAAAACAGGTG	0.343000													90	96					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46727067	46727067	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:46727067G>A	ENST00000318962.4	-	7	817	c.734C>T	c.(733-735)cCg>cTg	p.P245L	ALS2CL_ENST00000415953.1_Missense_Mutation_p.P245L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	245					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	p.P245L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCCCGCAACGGTGCGACCGT	0.612000													22	28					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197325	81197325	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:81197325G>A	ENST00000533478.1	-	0	1412				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCTCTTTGGGAAACTCATGA	0.547000													4	14					0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	171119	171119	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:171119G>A	ENST00000323434.8	-	4	762	c.165C>T	c.(163-165)atC>atT	p.I55I	RPH3AL_ENST00000536489.2_Silent_p.I55I|RPH3AL_ENST00000331302.7_Silent_p.I55I	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	55	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGACCTGCAGGATGGCCTCCA	0.677000													35	22					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615609	140615609	+	RNA	SNP	G	G	A	rs2909999	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140615609G>A	ENST00000526308.1	+	0	1672					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCGCCCCAGGACCCGCACCT	0.652000													9	242					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5418622	5418622	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:5418622G>A	ENST00000282908.5	+	6	945	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	STK32B_ENST00000510398.1_Missense_Mutation_p.E128K|STK32B_ENST00000512636.1_Intron	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	175	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GAAAGGAGCAGAAAGGGCTTC	0.522000													16	17					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764522	33764522	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:33764522A>T	ENST00000216968.4	+	4	705	c.623A>T	c.(622-624)tAc>tTc	p.Y208F	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	208					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGCCGCTCCTACACTTCGCTG	0.537000													8	21					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43107167	43107167	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:43107167C>T	ENST00000230419.4	+	10	1743	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	PTK7_ENST00000352931.2_Missense_Mutation_p.P508S|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.P516S|PTK7_ENST00000345201.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	508	Ig-like C2-type 6.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CACACCACCACCCCAGCCACA	0.602000													12	68					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651076	6651076	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:6651076G>A	ENST00000299441.3	-	11	5273	c.4862C>T	c.(4861-4863)gCc>gTc	p.A1621V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1621	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTCTGAGGCCACCACTGT	0.662000													13	69					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7247215	7247215	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:7247215C>T	ENST00000158762.3	+	8	815	c.609C>T	c.(607-609)ttC>ttT	p.F203F	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	203	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTACCCATTTCCAGCAGGGCC	0.652000													17	6					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293609	3293609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:3293609C>T	ENST00000219596.1	-	10	1917	c.1878G>A	c.(1876-1878)tgG>tgA	p.W626*	MEFV_ENST00000536379.1_Nonsense_Mutation_p.W415*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.W446*|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	626	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			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)	GCAGCCTCTCCCACTTGTTTC	0.488000													78	302					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33035909	33035909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:33035909C>T	ENST00000242209.4	+	7	1343	c.1174C>T	c.(1174-1176)Ctc>Ttc	p.L392F	FKBP9_ENST00000538443.1_Missense_Mutation_p.L254F|FKBP9_ENST00000490776.2_Missense_Mutation_p.L160F|FKBP9_ENST00000538336.1_Missense_Mutation_p.L445F|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	392	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGAGATTACCTCAAATATCA	0.527000													57	84					0	0	1	0	0
SMPD2	6610	broad.mit.edu	37	6	109764995	109764995	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:109764995G>A	ENST00000258052.3	+	10	1518	c.1159G>A	c.(1159-1161)Gct>Act	p.A387T		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	387					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TAGGGCCCAGGCTGAGCTCCA	0.617000													35	49					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36992681	36992681	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:36992681C>T	ENST00000217407.2	+	7	866	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	235					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TAGTGGAAGCCCCTCGGGCAA	0.542000													22	47					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126030	8126030	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:8126030C>T	ENST00000223145.5	+	8	2063	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	502										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCCGGGTTTCCTTTACGTCTC	0.567000													328	421					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981484	70981484	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:70981484G>A	ENST00000276594.2	-	2	813	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGTACAGAACGAAGTGCAGGT	0.602000													15	37					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173655	126173655	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:126173655C>T	ENST00000339582.2	-	9	2589	c.1781G>A	c.(1780-1782)gGa>gAa	p.G594E	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G594E|GRM8_ENST00000358373.3_Missense_Mutation_p.G594E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	594					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGCGATGATTCCCAATATTGC	0.512000										HNSCC(24;0.065)			43	82					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169194513	169194513	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:169194513G>A	ENST00000393743.3	-	18	2782	c.2491C>T	c.(2491-2493)Cgt>Tgt	p.R831C		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	831	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCGTAAAACGATTCTGAACA	0.393000													34	32					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40948219	40948219	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:40948219G>A	ENST00000246914.5	+	17	3531	c.3510G>A	c.(3508-3510)caG>caA	p.Q1170Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1170					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGGGAAGCAGCCCCCACCGG	0.597000													32	26					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:7577114C>T	ENST00000420246.2	-	8	956	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; 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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552000		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)			25	3					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47451683	47451683	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:47451683C>T	ENST00000265562.4	+	20	2472	c.2395C>T	c.(2395-2397)Ccc>Tcc	p.P799S	PTPN23_ENST00000431726.1_Missense_Mutation_p.P673S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	799	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTACTCGGGCCCCACCCAGCT	0.692000													10	12					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17338656	17338656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:17338656C>T	ENST00000215061.4	+	4	504	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	OCEL1_ENST00000597836.1_Missense_Mutation_p.P98S|OCEL1_ENST00000601529.1_Intron|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	154										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TAGTAAGTACCCGCCAGTGAG	0.547000													33	35					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123556151	123556151	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:123556151T>A	ENST00000422452.2	-	24	4505	c.4442A>T	c.(4441-4443)aAa>aTa	p.K1481I	TENM1_ENST00000371130.3_Missense_Mutation_p.K1474I|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGGATCAATTTTGCAGTCACA	0.448000													4	82					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42751272	42751272	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:42751272T>C	ENST00000310232.6	-	15	1975	c.1892A>G	c.(1891-1893)aAc>aGc	p.N631S		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	631										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTTGTGCCTGTTGTTAGAGGT	0.602000													40	96					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626602	56626602	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:56626602C>T	ENST00000266980.4	+	3	710	c.417C>T	c.(415-417)ctC>ctT	p.L139L	SLC39A5_ENST00000454355.2_Silent_p.L139L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	139					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTGGACCTCCTTCACAGGC	0.612000													16	79					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683613	100683613	+	Silent	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:100683613T>G	ENST00000306151.4	+	3	8980	c.8916T>G	c.(8914-8916)gcT>gcG	p.A2972A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2972	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)					CTACAACTGCTGAAGGTACCA	0.517000													130	1018					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23731181	23731181	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:23731181G>A	ENST00000344962.4	+	4	692	c.603G>A	c.(601-603)gcG>gcA	p.A201A	FAM221A_ENST00000409653.1_Silent_p.A143A|FAM221A_ENST00000409192.3_Silent_p.A201A|FAM221A_ENST00000409994.3_Silent_p.A143A	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	201																	GCTCGCTGGCGGAAGGCTACA	0.438000													34	283					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33338105	33338105	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:33338105G>A	ENST00000374796.2	-	10	4463	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	NCOA6_ENST00000359003.2_Silent_p.S631S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	631	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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			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						TCTGGCCCTGGGAGGGCACGA	0.577000													60	100					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381791	43381791	+	Silent	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:43381791G>T	ENST00000296088.7	+	5	1048	c.744G>T	c.(742-744)cgG>cgT	p.R248R	SNRK_ENST00000429705.2_Silent_p.R248R|SNRK_ENST00000454177.1_Silent_p.R248R|SNRK_ENST00000437827.1_Silent_p.R42R	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	248	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TAATCACACGGATGCTACAGA	0.403000													115	231					1.49884e-55	1.56789e-55	1	1	0
CBX2	84733	broad.mit.edu	37	17	77758177	77758177	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:77758177C>T	ENST00000310942.4	+	5	1039	c.935C>T	c.(934-936)cCc>cTc	p.P312L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	312					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGAAGGCCCCCAGCGGTGGG	0.677000													7	22					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592457	50592457	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:50592457T>G	ENST00000442544.2	+	7	1798	c.1182T>G	c.(1180-1182)gaT>gaG	p.D394E	DCC_ENST00000412726.1_Missense_Mutation_p.D242E|DCC_ENST00000581580.1_Missense_Mutation_p.D49E|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	394	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAAGTCAGATGAAGGCTTTT	0.443000													28	152					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625972	154625972	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:154625972A>C	ENST00000260010.6	+	1	3321	c.1913A>C	c.(1912-1914)aAc>aCc	p.N638T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	638					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CCCAGCAGGAACATCTGCTAT	0.537000													21	36					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837846	93837846	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:93837846G>A	ENST00000315765.9	+	16	2843	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	945	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACAATATTAAGAAGTATCTCA	0.343000													80	141					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792290	143792290	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:143792290C>T	ENST00000408949.2	+	1	150	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTGGGTTTTTCTTGCTATTCT	0.483000													83	134					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8239147	8239147	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:8239147C>T	ENST00000520004.1	-	2	375	c.111G>A	c.(109-111)cgG>cgA	p.R37R	SGK223_ENST00000330777.4_Silent_p.R37R			Q86YV5	SG223_HUMAN		37							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGTGGTCGCTCCGCAGGCAGA	0.667000													5	36					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74719448	74719448	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:74719448C>T	ENST00000233623.5	+	11	1044	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	346							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGAAATCGTTCCTTCTGCCAT	0.632000													32	58					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477473	58477473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:58477473C>T	ENST00000344743.3	-	6	798	c.657G>A	c.(655-657)tgG>tgA	p.W219*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W219*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	219					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCATTAGATCCCAGCACACAG	0.552000													53	97					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153906277	153906277	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:153906277G>A	ENST00000361217.4	-	20	3430	c.3012C>T	c.(3010-3012)gaC>gaT	p.D1004D		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1004										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCAGGCTCAGGTCTGAGAGAC	0.632000													8	24					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103573348	103573348	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:103573348G>A	ENST00000361464.3	-	2	610	c.215C>T	c.(214-216)cCt>cTt	p.P72L	MGEA5_ENST00000439817.1_Missense_Mutation_p.P72L|MGEA5_ENST00000357797.5_Missense_Mutation_p.P72L|MGEA5_ENST00000370094.3_Missense_Mutation_p.P72L|MGEA5_ENST00000419011.2_Missense_Mutation_p.P72L	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	72					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CATAACCCAAGGTCTTCCATA	0.289000													57	48					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131620671	131620671	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:131620671T>A	ENST00000261654.5	+	22	2916	c.2357T>A	c.(2356-2358)gTt>gAt	p.V786D	GPR133_ENST00000535015.1_Missense_Mutation_p.V818D|GPR133_ENST00000376682.4_Missense_Mutation_p.V472D|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.V305D	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	786					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGTGCTGTGGTTTTCCAGTAC	0.627000													14	26					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10309361	10309361	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:10309361C>A	ENST00000403437.2	-	21	2523	c.2429G>T	c.(2428-2430)aGg>aTg	p.R810M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	810	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGTTACCTCCTTTGCAACAT	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				32	108					6.02846e-25	6.2423e-25	1	1	0
ZAN	7455	broad.mit.edu	37	7	100345173	100345173	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:100345173G>A	ENST00000542585.1	+	0	1080				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCACTGCAGGGAGTATCCGG	0.522000													12	150					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057725	158057725	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:158057725G>T	ENST00000264428.4	+	5	672	c.402G>T	c.(400-402)atG>atT	p.M134I	GLRB_ENST00000509282.1_Missense_Mutation_p.M134I|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.M134I	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	134					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATCCAACAATGTACAAGTGTT	0.393000													67	79					1.3268e-25	1.37619e-25	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18706074	18706074	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:18706074G>A	ENST00000406451.3	+	12	1847	c.1697G>A	c.(1696-1698)gGg>gAg	p.G566E	HDAC9_ENST00000428307.2_Missense_Mutation_p.G522E|HDAC9_ENST00000401921.1_Missense_Mutation_p.G525E|HDAC9_ENST00000456174.2_Missense_Mutation_p.G538E|HDAC9_ENST00000524023.1_Missense_Mutation_p.G489E|HDAC9_ENST00000406072.1_Missense_Mutation_p.G553E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G569E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G566E|HDAC9_ENST00000405010.3_Missense_Mutation_p.G566E|HDAC9_ENST00000417496.2_Missense_Mutation_p.G564E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	566					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAATCTGGGGAGCAGGCT	0.453000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	27					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818712	17818712	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:17818712G>A	ENST00000545871.1	-	3	1879	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	RAI2_ENST00000451717.1_Silent_p.S473S|RAI2_ENST00000415486.3_Silent_p.S423S|RAI2_ENST00000360011.1_Silent_p.S473S|RAI2_ENST00000331511.1_Silent_p.S473S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	473					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCTGAAGCACGGAGTCTTCTC	0.478000													268	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084665	9084665	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:9084665C>T	ENST00000397910.4	-	1	7353	c.7150G>A	c.(7150-7152)Gat>Aat	p.D2384N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2384	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTAGTGACATCCATAGTTGAA	0.473000													15	41					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772108	143772108	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:143772108C>T	ENST00000408898.2	+	1	834	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTATGAGAGCCCCAAGGAGCA	0.478000													247	352					0	0	1	0	0
ASCL4	121549	broad.mit.edu	37	12	108169092	108169092	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:108169092A>T	ENST00000342331.4	+	1	931	c.100A>T	c.(100-102)Agg>Tgg	p.R34W		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	33					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						ACTCCCGCGGAGGGACCCCCT	0.726000													35	49					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39261636	39261636	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:39261636G>A	ENST00000280481.7	+	1	371	c.155G>A	c.(154-156)gGc>gAc	p.G52D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	52					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTGCCTTCGGCAGGGCGTTG	0.701000													6	8					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23946722	23946722	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:23946722C>T	ENST00000397154.3	+	10	894	c.881C>T	c.(880-882)cCt>cTt	p.P294L	NGDN_ENST00000408901.3_Missense_Mutation_p.P294L|NGDN_ENST00000556580.1_Missense_Mutation_p.P50L			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	294					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GATCAGAATCCTATTAAGAAG	0.478000													26	31					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421299	105421299	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:105421299G>A	ENST00000264122.4	-	12	1919	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	CBLB_ENST00000403724.1_Missense_Mutation_p.S533F|CBLB_ENST00000394027.3_Missense_Mutation_p.S555F|CBLB_ENST00000405772.1_Missense_Mutation_p.S533F	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	533	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CATGCAAGGAGAAGACTaaag	0.403000			Mis S		AML								10	15					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035656	160035656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:160035656C>T	ENST00000263635.6	+	14	2729	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	TANC1_ENST00000454300.1_Missense_Mutation_p.A725V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	831						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAAAACACGGCCTTCCTGTGT	0.542000													81	55					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475141	50475141	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:50475141G>A	ENST00000602139.1	+	0	1087									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TCCGGGTCCTGGAGGGCCAAA	0.662000													10	33					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287596	42287596	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:42287596G>A	ENST00000302904.4	-	15	2014	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	UBTF_ENST00000533177.1_Missense_Mutation_p.R471W|UBTF_ENST00000529383.1_Missense_Mutation_p.R508W|UBTF_ENST00000527034.1_Missense_Mutation_p.R471W|UBTF_ENST00000526094.1_Missense_Mutation_p.R471W|UBTF_ENST00000436088.1_Missense_Mutation_p.R508W|UBTF_ENST00000393606.3_Missense_Mutation_p.R471W|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.R471W			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	508					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTTCACCCGGTCATTCTGG	0.532000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	145					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10673657	10673657	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:10673657G>A	ENST00000423302.2	-	2	289	c.140C>T	c.(139-141)tCc>tTc	p.S47F	MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.S47F|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S38F|MRVI1_ENST00000436272.1_Missense_Mutation_p.S38F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S38F|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	38					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCCTGCTGGGAGTGGCCACG	0.667000													8	15					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68035871	68035871	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:68035871C>T	ENST00000329153.5	+	8	1412	c.1280C>T	c.(1279-1281)gCt>gTt	p.A427V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	427						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGGATCTATGCTGTGGCCACA	0.572000													26	58					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108139321	108139321	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:108139321C>T	ENST00000278616.4	+	18	3208	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	ATM_ENST00000452508.2_Silent_p.S941S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	941					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTACCAAATCCCTCCACCTGC	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			58	45					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954602	70954602	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:70954602C>T	ENST00000393567.2	-	46	7827	c.7677G>A	c.(7675-7677)aaG>aaA	p.K2559K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2559										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ccttctccttcttcccttcgt	0.622000													5	14					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769859	160769859	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:160769859C>T	ENST00000263285.5	+	2	471	c.441C>T	c.(439-441)acC>acT	p.T147T	LY9_ENST00000341032.4_Silent_p.T147T|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.T107T|LY9_ENST00000368039.2_Silent_p.T147T	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	147	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAATTCACCCTGTTCGTCT	0.393000													76	102					0	0	1	0	0
DUXAP8	503637	broad.mit.edu	37	22	16150995	16150995	+	RNA	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:16150995C>T	ENST00000447898.1	-	0	1119																											CCAATTTCTTCAGCAAGTTGT	0.388000													8	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614989	179614989	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:179614989G>A	ENST00000360870.5	-	46	12360	c.12138C>T	c.(12136-12138)gtC>gtT	p.V4046V	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9864							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)			GGAACACTGGGACTTTATGTG	0.393000													117	93					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126934	40126934	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:40126934C>T	ENST00000235628.1	-	5	557	c.556_splice	c.e5-1	p.G186_splice		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	186					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCTGCGATCCCTAGGCAGA	0.607000													16	31					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45470430	45470430	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:45470430A>C	ENST00000372172.4	-	16	2055	c.1984T>G	c.(1984-1986)Ttc>Gtc	p.F662V	HECTD3_ENST00000372168.3_Missense_Mutation_p.F272V|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	662	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CCAAACTTGAACTCAAACGTC	0.527000													61	122					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95726484	95726484	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:95726484G>A	ENST00000376887.4	-	23	3015	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	ABCC4_ENST00000412704.1_Silent_p.S920S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	967	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCAGAATCAGGGACCCAAAGG	0.418000													10	23					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671898	144671898	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:144671898G>A	ENST00000532741.1	-	1	732	c.504C>T	c.(502-504)ttC>ttT	p.F168F	EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Silent_p.F118F|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Silent_p.F118F|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000317198.6_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	18					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGCCTGGTCGAAAAGTGACT	0.662000													10	12					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43698844	43698844	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:43698844G>A	ENST00000395809.1	-	3	2729	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	RASGEF1A_ENST00000395810.1_Silent_p.L75L|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Silent_p.L83L			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	75	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CGGGAGCTCAGGAGAAAGGTG	0.652000													6	1					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967631	4967631	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:4967631C>T	ENST00000380373.2	-	1	725	c.700G>A	c.(700-702)Gag>Aag	p.E234K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAAGCTGCTCCTTTTTGGAT	0.473000													51	92					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149983316	149983316	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:149983316G>A	ENST00000543571.1	-	8	3489	c.2942C>T	c.(2941-2943)gCt>gTt	p.A981V	LATS1_ENST00000253339.5_Missense_Mutation_p.A981V	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	981	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGATCAGAAGCTTCAGGACT	0.358000													73	98					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19166711	19166711	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:19166711G>A	ENST00000535612.1	+	8	1699	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	ARMC6_ENST00000269932.6_Missense_Mutation_p.A398T|ARMC6_ENST00000392335.2_Missense_Mutation_p.A398T|ARMC6_ENST00000392336.3_Missense_Mutation_p.A423T|ARMC6_ENST00000546344.1_Missense_Mutation_p.A330T	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	423							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGCCATGAAGGCACACCCGCA	0.692000													21	28					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008231	11008231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:11008231C>T	ENST00000377004.4	-	12	1960	c.1961G>A	c.(1960-1962)gGg>gAg	p.G654E	C1orf127_ENST00000377008.4_Missense_Mutation_p.G487E	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	505										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GAGTCCCGGCCCCTCTATGTC	0.642000													37	56					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673545	30673545	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:30673545G>A	ENST00000376406.3	-	10	4062	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P875S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1139	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTGGGCTTGGGAGTGACTGGC	0.577000								Other conserved DNA damage response genes					130	190					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059015	79059015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:79059015G>A	ENST00000388820.4	-	19	3448	c.3238C>T	c.(3238-3240)Ccc>Tcc	p.P1080S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1080					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCTCAGAGGGCCCGTAGGAC	0.637000													13	25					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161174704	161174704	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:161174704C>T	ENST00000348849.3	-	3	716	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RBMS1_ENST00000409075.1_Missense_Mutation_p.D63N|RBMS1_ENST00000409289.2_Missense_Mutation_p.D63N|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.D96N|RBMS1_ENST00000409972.1_Missense_Mutation_p.D63N	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	96	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GTTGTCTTATCCAAAATTGCC	0.284000													19	87					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103113312	103113312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:103113312C>T	ENST00000428762.1	-	65	10489	c.10330G>A	c.(10330-10332)Ggg>Agg	p.G3444R	RELN_ENST00000424685.2_Missense_Mutation_p.G3444R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.G3442R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3444	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTCTGAGCCCATGTTGTCGT	0.378000													53	151					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122130144	122130144	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:122130144C>A	ENST00000334010.7	-	11	2264	c.1843G>T	c.(1843-1845)Gct>Tct	p.A615S	CADPS2_ENST00000313070.7_Missense_Mutation_p.A615S|CADPS2_ENST00000449022.2_Missense_Mutation_p.A615S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A615S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	615					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAAAGCTGAGCATCTGCATGG	0.333000													24	181					1.96895e-08	1.99829e-08	1	1	0
SSBP4	170463	broad.mit.edu	37	19	18542187	18542187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:18542187C>T	ENST00000270061.6	+	6	614	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	SSBP4_ENST00000348495.5_Intron	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	132	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCAGCCGTCCCCCCACAACCC	0.701000													6	4					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007852	6007852	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:6007852G>A	ENST00000332249.4	-	1	363	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGAACCAGGAGCACTGCAA	0.547000													12	27					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27394305	27394305	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:27394305G>A	ENST00000429845.2	-	3	431	c.69C>T	c.(67-69)atC>atT	p.I23I	NEK10_ENST00000341435.5_Silent_p.I23I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	23							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGAGTTACCTGATGGTGATTT	0.378000													17	44					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34236437	34236437	+	RNA	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:34236437C>T	ENST00000587132.1	-	0	1590																											TGAGCTTGATCCTGACCCGGT	0.493000													19	62					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404285	20404285	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:20404285C>T	ENST00000285600.4	+	1	519	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGTGGGCGTTCTTCATTCTGT	0.463000													55	236					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176937	49176937	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:49176937G>A	ENST00000307885.4	-	1	975	c.281C>T	c.(280-282)aCc>aTc	p.T94I	ADCY6_ENST00000357869.3_Missense_Mutation_p.T94I|ADCY6_ENST00000550422.1_Missense_Mutation_p.T94I	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	94					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTCACCTCGGTATCCTCGAA	0.716000													29	72					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969462	240969462	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:240969462C>A	ENST00000366565.1	-	15	1628	c.1247G>T	c.(1246-1248)cGa>cTa	p.R416L	RGS7_ENST00000401882.1_Missense_Mutation_p.R363L|RGS7_ENST00000366563.1_Missense_Mutation_p.R416L|RGS7_ENST00000407727.1_Missense_Mutation_p.R416L|RGS7_ENST00000348120.2_Missense_Mutation_p.R363L|RGS7_ENST00000331110.7_Missense_Mutation_p.R390L|RGS7_ENST00000366562.4_Missense_Mutation_p.R416L|RGS7_ENST00000366564.1_Missense_Mutation_p.R416L|RGS7_ENST00000446183.2_Missense_Mutation_p.R332L	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	416	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AAATGTGTATCGTCCAGGTTC	0.453000													46	99					6.81593e-30	7.10573e-30	1	1	0
NFRKB	4798	broad.mit.edu	37	11	129744415	129744415	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:129744415G>A	ENST00000446488.3	-	19	2142	c.2039C>T	c.(2038-2040)cCc>cTc	p.P680L	NFRKB_ENST00000524794.1_Missense_Mutation_p.P705L|NFRKB_ENST00000304521.5_Missense_Mutation_p.P680L|NFRKB_ENST00000524746.1_Missense_Mutation_p.P680L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	680					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TGGGGGCTTGGGTTTTTGCTG	0.522000													142	122					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65233410	65233410	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:65233410C>T	ENST00000542895.1	-	32	6475	c.6379G>A	c.(6379-6381)Gag>Aag	p.E2127K	SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Missense_Mutation_p.E2127K|SPTB_ENST00000389722.3_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2127					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCAGTGACTCCCAGGAACTA	0.647000													100	145					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45470428	45470428	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:45470428G>A	ENST00000372172.4	-	16	2057	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	HECTD3_ENST00000372168.3_Silent_p.F272F|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	662	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCCAAACTTGAACTCAAACG	0.527000													63	122					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498356	106498356	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:106498356C>G	ENST00000233154.4	+	4	1241	c.799C>G	c.(799-801)Cca>Gca	p.P267A	NCK2_ENST00000393349.2_Missense_Mutation_p.P267A|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	267					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						TGCGCACGCCCCACAGATAAG	0.662000													17	65					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67039854	67039854	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:67039854G>A	ENST00000340001.4	-	6	787	c.576C>T	c.(574-576)atC>atT	p.I192I	ABCA9_ENST00000370732.2_Silent_p.I192I|ABCA9_ENST00000453985.2_Silent_p.I192I|ABCA9_ENST00000495634.1_Silent_p.I192I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	192					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATTTGTTGCGATCTGAAGAA	0.338000													33	49					0	0	1	0	0
ADAT2	134637	broad.mit.edu	37	6	143755089	143755089	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:143755089G>A	ENST00000606514.1	-	3	674	c.90C>T	c.(88-90)atC>atT	p.I30I	ADAT2_ENST00000237283.8_Silent_p.I77I			Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	77					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		GGACCTGATCGATGGCCACCA	0.443000													44	144					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116408	15116408	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:15116408C>T	ENST00000253699.3	-	14	1849	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	ZFYVE20_ENST00000476527.2_Silent_p.E412E	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	412	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCTGCCTTTCCTCAAGCCTTC	0.637000													32	56					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51771007	51771007	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:51771007G>A	ENST00000543196.2	-	3	841	c.636C>T	c.(634-636)atC>atT	p.I212I	GALNT6_ENST00000356317.3_Silent_p.I212I			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	212	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCACCAGTATGATCTCCTTGA	0.602000													18	39					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52473730	52473730	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:52473730T>C	ENST00000231721.2	-	12	1432	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	478	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AACCACTTCCTCAGGTTCAGC	0.622000													19	35					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13215788	13215788	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:13215788G>A	ENST00000592062.1	-	18	2511	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	TRMT1_ENST00000357720.4_Silent_p.P647P|TRMT1_ENST00000221504.8_Silent_p.P618P|TRMT1_ENST00000437766.1_Silent_p.P647P			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	647							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CAGGTCCAGGGGGGGTCTGGT	0.602000											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	209					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257917	16257917	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:16257917C>G	ENST00000375759.3	+	11	5386	c.5182C>G	c.(5182-5184)Ccg>Gcg	p.P1728A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1728					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGTGACCAGCCGCCTTATCT	0.572000													108	223					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57395215	57395215	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:57395215C>T	ENST00000543257.1	-	13	2048	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	C8B_ENST00000535057.1_Silent_p.G484G|C8B_ENST00000371237.4_Silent_p.G546G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	546	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AATTCCACTTCCCATCAATGG	0.453000													32	52					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33346880	33346880	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:33346880G>A	ENST00000270112.2	+	7	1384	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	342					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTCTCTGGAAGATCTGAGCCC	0.582000													31	75					0	0	1	0	0
GBGT1	26301	broad.mit.edu	37	9	136029624	136029624	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:136029624G>A	ENST00000372043.3	-	7	650	c.365C>T	c.(364-366)tCc>tTc	p.S122F	GBGT1_ENST00000540636.1_Silent_p.F111F|GBGT1_ENST00000372040.3_Silent_p.F128F|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.P141S|RALGDS_ENST00000542690.1_Intron	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CTGACTCCAGGAAGGACTGGA	0.607000													26	10					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482330	142482330	+	RNA	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:142482330A>C	ENST00000603901.1	+	0	710					NR_001296.3																						AACTATGTGGACTGGATTAAG	0.498000													10	171					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208202359	208202359	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:208202359T>C	ENST00000367033.3	-	30	6011	c.5254A>G	c.(5254-5256)Att>Gtt	p.I1752V	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1752					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGTTCTTAATCACGTTCACC	0.562000													36	56					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518129	108518129	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:108518129G>A	ENST00000375915.2	-	1	954	c.816C>T	c.(814-816)gaC>gaT	p.D272D		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	272						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGCATGGTGGTCATAGTCCT	0.512000													58	44					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199046	20199046	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:20199046C>T	ENST00000400331.5	-	5	1246	c.938G>A	c.(937-939)aGc>aAc	p.S313N	MACC1_ENST00000589011.1_Missense_Mutation_p.S313N|MACC1_ENST00000332878.4_Missense_Mutation_p.S313N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	313					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTACCCAAGCTGTGTAAACA	0.398000													56	87					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79432380	79432380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:79432380G>A	ENST00000554719.1	+	9	1780	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	NRXN3_ENST00000335750.5_Missense_Mutation_p.G430E	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACAATGGTGGGAGACCATACC	0.428000													24	69					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384215	101384215	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:101384215G>A	ENST00000312938.4	-	4	1796	c.1216C>T	c.(1216-1218)Cat>Tat	p.H406Y		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTTCAGGATGGGAATCAGCT	0.423000													55	87					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131296312	131296312	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:131296312G>A	ENST00000379264.2	-	19	1968	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	ACSL6_ENST00000431707.1_Silent_p.A575A|ACSL6_ENST00000379249.3_Silent_p.A595A|ACSL6_ENST00000379246.1_Silent_p.A606A|ACSL6_ENST00000379272.2_Silent_p.A610A|ACSL6_ENST00000379244.1_Silent_p.A595A|ACSL6_ENST00000379240.1_Silent_p.A595A|ACSL6_ENST00000296869.4_Silent_p.A620A|ACSL6_ENST00000357096.1_Silent_p.A520A|ACSL6_ENST00000543479.1_Silent_p.A595A|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379255.1_Silent_p.A520A|ACSL6_ENST00000544770.1_Silent_p.A504A	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	595					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTACCAAAAAGGCCTGCAGTG	0.443000													21	16					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196891484	196891484	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:196891484C>T	ENST00000312428.6	-	7	767	c.667_splice	c.e7+1	p.V223_splice	DNAH7_ENST00000410072.1_Splice_Site_p.V223_splice	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	223	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAATTTACCTATGGATTTC	0.284000													30	19					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227140	39227140	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:39227140C>T	ENST00000340369.3	-	2	4025	c.3797G>A	c.(3796-3798)gGa>gAa	p.G1266E	XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1266	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGTCAGGTCCTGTCACAGC	0.627000													21	32					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68863657	68863657	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:68863657C>T	ENST00000261769.5	+	15	2587	c.2396C>T	c.(2395-2397)cCc>cTc	p.P799L	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.P738L	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	799					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CGGTATCTTCCCCGCCCTGCC	0.522000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				42	99					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147728	67147728	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:67147728G>A	ENST00000371037.4	+	15	1068	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.E335K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	331	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACTCCAAGGGAAAAAGTGGT	0.572000													123	206					0	0	1	0	0
MRPS33	51650	broad.mit.edu	37	7	140710239	140710239	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:140710239G>A	ENST00000393008.3	-	2	350	c.195C>T	c.(193-195)ctC>ctT	p.L65L	MRPS33_ENST00000324787.5_Silent_p.L65L|MRPS33_ENST00000467334.1_Silent_p.L55L|MRPS33_ENST00000469351.1_Silent_p.L65L|MRPS33_ENST00000496958.1_Silent_p.L65L	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					CAAGAAATCGGAGCGTCTGCA	0.413000													125	142					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132096652	132096652	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:132096652G>A	ENST00000296873.7	-	9	1411	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	SEPT8_ENST00000378706.1_Silent_p.V376V|SEPT8_ENST00000378699.2_Silent_p.V316V|SEPT8_ENST00000448933.1_Silent_p.V316V|SEPT8_ENST00000378719.2_Silent_p.V376V|SEPT8_ENST00000378701.1_Silent_p.V374V|SEPT8_ENST00000378721.4_Silent_p.V374V|SEPT8_ENST00000458488.2_Silent_p.V376V	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	376					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCCTGGTGGACCCGCTTCA	0.622000													76	35					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136472298	136472298	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:136472298G>A	ENST00000308191.6	+	6	686	c.382_splice	c.e6-1	p.G128_splice	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	128					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TTTCCTGCAGGAAACAGCCTG	0.373000													18	71					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400487	67400487	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:67400487C>T	ENST00000335385.3	-	5	724	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	213					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TTGAAGTTCTCCTGGGCATAG	0.567000													104	211					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150440012	150440012	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150440012A>T	ENST00000358647.3	+	3	1152	c.785A>T	c.(784-786)gAg>gTg	p.E262V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCTGAGGGAGAACGAGAGT	0.488000													16	125					0	0	1	0	0
CAPG	822	broad.mit.edu	37	2	85628916	85628916	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:85628916A>C	ENST00000263867.4	-	3	437	c.188T>G	c.(187-189)cTg>cGg	p.L63R	CAPG_ENST00000409921.1_Missense_Mutation_p.L63R|CAPG_ENST00000409670.1_Missense_Mutation_p.L63R|CAPG_ENST00000409724.1_Missense_Mutation_p.L63R	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	63					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						ACCTATCCACAGGTGCAGATG	0.617000													48	82					0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45076619	45076619	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:45076619C>T	ENST00000291560.2	-	3	368		c.e3-1		HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein						spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TTCCCATGTGCTAAAAGAACA	0.373000													12	69					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55525940	55525940	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:55525940G>A	ENST00000310373.3	-	8	1400	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	76					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCTGAGAGCTGGGAACCTTAG	0.532000													21	69					0	0	1	0	0
GID4	79018	broad.mit.edu	37	17	17943050	17943050	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:17943050C>T	ENST00000268719.4	+	1	445	c.272C>T	c.(271-273)cCc>cTc	p.P91L	GID4_ENST00000376345.3_Missense_Mutation_p.P91L	NM_024052.4	NP_076957.3			GID complex subunit 4																		ACCGAGTGTCCCCCGCCGGCC	0.776000													2	1					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732687	50732687	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:50732687G>A	ENST00000355832.5	-	5	867	c.789C>T	c.(787-789)atC>atT	p.I263I	PGBD3_ENST00000603152.1_Silent_p.I263I|ERCC6-PGBD3_ENST00000515869.1_Silent_p.I263I|ERCC6-PGBD3_ENST00000447839.2_Silent_p.I263I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	263					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATTAAGCATGATTTTTCTGG	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)					93	62					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10388868	10388868	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:10388868G>A	ENST00000328655.3	+	3	451	c.411G>A	c.(409-411)aaG>aaA	p.K137K	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.K137K	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	137	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGAAATAAAGGAGGTCGCCA	0.522000													47	151					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990757	47990757	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:47990757G>A	ENST00000371741.4	-	2	1506	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	447					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATGTTCATGGATACGATGCT	0.443000													88	191					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128712902	128712902	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:128712902C>G	ENST00000357702.5	-	16	2289	c.2158G>C	c.(2158-2160)Gaa>Caa	p.E720Q	SAP130_ENST00000259235.3_Missense_Mutation_p.E685Q|SAP130_ENST00000259234.6_Missense_Mutation_p.E693Q	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	685	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACGTGGATTTCAGACTTGGGT	0.438000													28	105					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83036530	83036530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:83036530C>T	ENST00000307792.3	-	7	1163	c.696G>A	c.(694-696)atG>atA	p.M232I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.M172I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	232	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTCAGGAATCATGTATGAAC	0.333000													41	76					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20573388	20573388	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:20573388C>T	ENST00000399722.2	+	11	1949	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	RBBP8_ENST00000327155.5_Missense_Mutation_p.S533F|RBBP8_ENST00000399725.2_Missense_Mutation_p.S533F|RBBP8_ENST00000360790.5_Missense_Mutation_p.S533F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	533					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAGGGCTTTTCCTCAAGCCGT	0.463000								Homologous recombination					42	67					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187968	121187968	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:121187968G>A	ENST00000321339.1	+	1	319	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	104	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCTCCCGGGATGACGTGGC	0.577000													25	20					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102105249	102105249	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:102105249C>T	ENST00000376180.3	+	1	284	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ITGBL1_ENST00000545560.2_5'UTR	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	22					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGGGTTGTCAGCTGTTCCT	0.557000													12	99					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47233864	47233864	+	Splice_Site	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:47233864G>T	ENST00000319190.5	+	10	1655		c.e10+1		TTC7A_ENST00000461601.1_Splice_Site|TTC7A_ENST00000394850.2_Splice_Site|TTC7A_ENST00000263737.6_Splice_Site|TTC7A_ENST00000409245.1_Splice_Site	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A								binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGTGGGAAGGTAAGGCCCAG	0.597000													8	46					1.26484e-09	1.28582e-09	1	1	0
ANKAR	150709	broad.mit.edu	37	2	190541727	190541727	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:190541727T>C	ENST00000520309.1	+	2	599	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.F100L|ANKAR_ENST00000313581.4_Missense_Mutation_p.F171L|ANKAR_ENST00000438402.2_Missense_Mutation_p.F171L|ANKAR_ENST00000461516.1_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	171						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACGAGCTAGATTCTCTGAATT	0.363000													23	66					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407941	49407941	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:49407941C>G	ENST00000299191.3	+	1	208	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	31										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CATGTCTGACCTCACCTGTGT	0.502000													43	88					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657211	40657211	+	Silent	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:40657211A>C	ENST00000406785.1	-	2	399	c.210T>G	c.(208-210)tcT>tcG	p.S70S	SLC8A1_ENST00000405269.1_Silent_p.S70S|SLC8A1_ENST00000542756.1_Silent_p.S70S|SLC8A1_ENST00000542024.1_Silent_p.S70S|SLC8A1_ENST00000403092.1_Silent_p.S70S|SLC8A1_ENST00000402441.1_Silent_p.S70S|SLC8A1_ENST00000408028.2_Silent_p.S70S|SLC8A1_ENST00000406391.2_Silent_p.S70S|SLC8A1_ENST00000405901.3_Silent_p.S70S|SLC8A1_ENST00000332839.4_Silent_p.S70S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	70					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTCCCCAAAAGAAGGGTCTT	0.423000													12	172					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051325	85051325	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:85051325C>T	ENST00000335459.5	-	5	1144	c.939G>A	c.(937-939)ggG>ggA	p.G313G	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.G362G	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		TTTTACTCTTCCCTCTGTACG	0.552000													21	31					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572428	90572428	+	RNA	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:90572428C>T	ENST00000551025.1	+	0	2437							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTCACACAGTCGAGTAGACTC	0.348000													79	84					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116407	15116407	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:15116407C>T	ENST00000253699.3	-	14	1850	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E413K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	413	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTCTGCCTTTCCTCAAGCCTT	0.637000													32	56					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90281230	90281230	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:90281230C>T	ENST00000405460.2	+	85	18139	c.18043C>T	c.(18043-18045)Ctt>Ttt	p.L6015F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1676F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6015					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTGTTTTTCCTTCTGAGTTG	0.408000													8	27					0	0	1	0	0
ACTG1P17	283693	broad.mit.edu	37	15	83395174	83395174	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:83395174G>A	ENST00000560958.1	-	0	1112					NR_036446.1																						GATCCACATGGAATACTTGTG	0.547000													14	13					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727646	31727646	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31727646T>C	ENST00000493662.2	+	18	1686	c.1630T>C	c.(1630-1632)Tcc>Ccc	p.S544P	MSH5_ENST00000395853.1_Missense_Mutation_p.S201P|MSH5_ENST00000431848.2_Missense_Mutation_p.S226P|MSH5_ENST00000375703.3_Missense_Mutation_p.S527P|MSH5_ENST00000534153.4_Missense_Mutation_p.S544P|MSH5_ENST00000375740.3_Missense_Mutation_p.S544P|MSH5_ENST00000375742.3_Missense_Mutation_p.S544P|MSH5_ENST00000375750.3_Missense_Mutation_p.S527P|MSH5_ENST00000375755.3_Missense_Mutation_p.S527P																							GGACCTTGCCTCCCGCCTGGA	0.602000													56	60					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43855019	43855019	+	Missense_Mutation	SNP	G	G	A	rs145463901		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:43855019G>A	ENST00000319294.6	+	10	1379	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	UBASH3A_ENST00000398367.1_Missense_Mutation_p.D412N|UBASH3A_ENST00000291535.6_Missense_Mutation_p.D412N	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	450	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTTTGAAAACGATCCCCCATT	0.433000													32	84					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167185042	167185042	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:167185042G>A	ENST00000476257.1	-	4	577	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SERPINI2_ENST00000264677.4_Silent_p.F93F|SERPINI2_ENST00000471111.1_Silent_p.F93F|SERPINI2_ENST00000461846.1_Silent_p.F93F			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	93					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGATGGCAGAGAAAAATGACT	0.333000													26	40					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44425994	44425994	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:44425994T>C	ENST00000372343.3	+	12	2764	c.2102T>C	c.(2101-2103)gTt>gCt	p.V701A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	701					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GATGCCCAGGTTGTGGAGGTG	0.547000													90	137					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018563	1018563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:1018563C>T	ENST00000421673.2	-	31	4288	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1413	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGGGACTCCCCGCCGTAGG	0.582000													51	75					0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18591776	18591776	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:18591776G>A	ENST00000396197.3	-	4	370	c.342C>T	c.(340-342)ctC>ctT	p.L114L	UEVLD_ENST00000379387.4_Silent_p.L92L|UEVLD_ENST00000320750.6_Silent_p.L92L|UEVLD_ENST00000300038.7_Silent_p.L114L|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000543987.1_Silent_p.L114L|UEVLD_ENST00000535484.1_Silent_p.L76L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	114	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCAGTTTTGGAGATAGGGCA	0.363000													28	65					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236944	140236944	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140236944G>A	ENST00000307360.5	+	1	1311	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T437T|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCCACGGCCAGCGTGT	0.672000													7	120					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26900586	26900586	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:26900586C>T	ENST00000374168.2	+	22	2256	c.2102C>T	c.(2101-2103)aCg>aTg	p.T701M	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.T685M|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.T609M|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.T710M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.T690M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.T609M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	701					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATGGCTGCCACGTACTCCGCA	0.632000													38	73					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046418	69046418	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:69046418C>T	ENST00000295381.3	+	9	1583	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	ARHGAP25_ENST00000497079.1_Silent_p.L382L|ARHGAP25_ENST00000409030.3_Silent_p.L381L|ARHGAP25_ENST00000409202.3_Silent_p.L389L|ARHGAP25_ENST00000479844.1_Silent_p.L82L|ARHGAP25_ENST00000467265.1_Silent_p.L349L|ARHGAP25_ENST00000409220.1_Silent_p.L382L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	388					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTGAAGACCTCCGAATTTCTA	0.527000													30	138					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616979	77616979	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:77616979G>A	ENST00000521891.2	+	2	1104	c.656G>A	c.(655-657)gGa>gAa	p.G219E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G219E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G219E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G219E|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCATTAGCAGGAGTTGGTCCT	0.468000										HNSCC(33;0.089)			5	33					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869796	4869796	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:4869796C>T	ENST00000322101.2	-	1	718	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	215					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)		GGGTCCAAACCCATGGCTGAA	0.527000													51	78					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774325	47774325	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:47774325G>A	ENST00000376954.1	+	6	648	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ZNF81_ENST00000338637.7_Missense_Mutation_p.G94R			P51508	ZNF81_HUMAN	zinc finger protein 81	94						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CTTTTTAGATGGGAAATTTGG	0.338000													19	10					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922601	24922601	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:24922601C>T	ENST00000329468.2	+	1	2061	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCTTTCCTTCCTGACTCTTC	0.532000													125	91					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887272	12887272	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:12887272C>T	ENST00000535591.1	-	3	780	c.585G>A	c.(583-585)caG>caA	p.Q195Q		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	195										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAACGAGCTTCTGAAGATTCC	0.507000													232	412					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397623	76397623	+	Silent	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:76397623T>C	ENST00000284142.6	-	1	493	c.354A>G	c.(352-354)acA>acG	p.T118T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	118					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CATAGTCTTTTGTCTTCTTGA	0.343000													23	38					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384781	12384781	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:12384781G>A	ENST00000356109.5	-	5	551	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	ZNF44_ENST00000355684.5_Missense_Mutation_p.P97S	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ACTCTGGCGGGAGTGTTCTTG	0.418000													54	162					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19379700	19379700	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:19379700T>C	ENST00000263208.5	-	9	1116	c.860A>G	c.(859-861)aAt>aGt	p.N287S	HIRA_ENST00000541063.1_Missense_Mutation_p.N243S|HIRA_ENST00000340170.4_Missense_Mutation_p.N287S|HIRA_ENST00000546308.1_Missense_Mutation_p.N243S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	287					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGAACTCCCATTCTTCTGCTT	0.463000													23	49					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133015206	133015206	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:133015206G>A	ENST00000367928.4	-	3	470	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	153	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCATCAGGGGGACACTGAGGA	0.433000													31	122					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47563278	47563278	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:47563278C>T	ENST00000285039.7	-	4	696	c.397G>A	c.(397-399)Gga>Aga	p.G133R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	133	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCATGTCTCCCATGTTTTGG	0.473000													19	60					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61920061	61920061	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:61920061C>T	ENST00000332981.5	+	7	1335	c.950C>T	c.(949-951)tCt>tTt	p.S317F	PRKCH_ENST00000555082.1_Missense_Mutation_p.S156F	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	317					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGAAATATTTCTCCAACCTCG	0.483000													29	65					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396347	54396347	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:54396347G>A	ENST00000303450.4	+	2	742	c.672G>A	c.(670-672)gaG>gaA	p.E224E	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.E224E	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	224					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTCGGTATGAGGTGGCCCGGG	0.488000													24	124					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540378	115540378	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:115540378C>T	ENST00000354462.3	+	6	593	c.435C>T	c.(433-435)atC>atT	p.I145I	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.I313I|PLEKHS1_ENST00000369309.1_Silent_p.I229I					pleckstrin homology domain containing, family S member 1									p.I313I(1)									AGCTTACCATCGGCAGGATCC	0.408000													28	32					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60073666	60073666	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:60073666C>T	ENST00000355131.3	+	7	806	c.583C>T	c.(583-585)Cct>Tct	p.P195S	MS4A4A_ENST00000532114.1_Missense_Mutation_p.P161S|MS4A4A_ENST00000337908.4_Missense_Mutation_p.P214S|MS4A4A_ENST00000395016.3_Missense_Mutation_p.P195S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	214						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CTGTTGTACCCCTGGTGGGGT	0.458000													66	123					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160596	75160596	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:75160596G>A	ENST00000526177.1	-	4	1998	c.120C>T	c.(118-120)atC>atT	p.I40I	GDPD5_ENST00000533784.1_Silent_p.I59I|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Silent_p.I59I|GDPD5_ENST00000529721.1_Silent_p.I178I|GDPD5_ENST00000336898.3_Silent_p.I178I|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	178					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTCCTGCCACGATCCAGGAGA	0.637000													3	5					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248684954	248684954	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:248684954G>A	ENST00000343414.4	+	1	39	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAATGGAGGAAACCAACAA	0.398000													65	138					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24975353	24975353	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:24975353C>T	ENST00000323848.9	+	4	553	c.238C>T	c.(238-240)Cca>Tca	p.P80S	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P80S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P80S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	80	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTTGCAGAATCCAGACTCCAA	0.373000													42	92					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285315	152285315	+	Missense_Mutation	SNP	G	G	A	rs149385928	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:152285315G>A	ENST00000368799.1	-	3	2082	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	683	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R683S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGTGACGAGTGCCTGAT	0.552000									Ichthyosis				272	502					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318448	79318448	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:79318448G>C	ENST00000428286.1	-	9	8204	c.7004C>G	c.(7003-7005)cCa>cGa	p.P2335R	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2694R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2694					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGGCTGACTGGACCAGAGGC	0.537000													5	81					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109285499	109285499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:109285499G>A	ENST00000392644.4	+	16	2437	c.2269G>A	c.(2269-2271)Gga>Aga	p.G757R	ARMC2_ENST00000368972.3_Missense_Mutation_p.G592R|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	757							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTTGAAAGAAGGAGGTGGCAT	0.463000													14	19					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665906	25665906	+	Silent	SNP	C	C	T	rs144239727		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:25665906C>T	ENST00000382051.3	+	4	383	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SLC34A2_ENST00000503434.1_Silent_p.F110F|SLC34A2_ENST00000504570.1_Silent_p.F110F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	111					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.F111F(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTACTTTTTCGTGTGCTCCC	0.483000			T	ROS1	NSCLC								19	79					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68863658	68863658	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:68863658C>T	ENST00000261769.5	+	15	2588	c.2397C>T	c.(2395-2397)ccC>ccT	p.P799P	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.P738P	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	799					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTATCTTCCCCGCCCTGCCA	0.522000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				42	100					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406529	105406529	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:105406529G>A	ENST00000333244.5	-	7	15378	c.15259C>T	c.(15259-15261)Ctc>Ttc	p.L5087F	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L85F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5087						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCGGTGGAGGTTCACACCC	0.572000													68	106					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964001	209964001	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:209964001C>T	ENST00000367021.3	-	7	1071	c.899G>A	c.(898-900)aGa>aAa	p.R300K	IRF6_ENST00000542854.1_Missense_Mutation_p.R205K	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	300					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GATCAGTCCTCTGTCCATGAC	0.547000										HNSCC(57;0.16)			57	63					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826576	34826576	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:34826576G>A	ENST00000192788.5	+	14	2614	c.2443G>A	c.(2443-2445)Gat>Aat	p.D815N	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815N	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	815										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGATGTAGCAGATGTTCATAT	0.507000													49	250					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133618124	133618124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:133618124G>A	ENST00000409261.1	-	11	1121	c.748C>T	c.(748-750)Cga>Tga	p.R250*	NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R250*|NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.R250*|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.R250*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	250			R -> Q (in dbSNP:rs58963837).				protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTAGTGTTCGATTCTGCTGT	0.413000													6	9					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157982	155157982	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:155157982C>T	ENST00000392825.3	+	9	1603	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.R346W	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	346	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCATGTTTTTCGGAAGGCAAC	0.403000													145	359					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156518436	156518436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:156518436G>A	ENST00000361170.2	-	17	1940	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	644					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCACAGTCGGGAACTACCCCT	0.607000													34	78					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782399	6782399	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:6782399C>T	ENST00000297436.2	-	2	284	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	82					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAGGAATATTCTGTTGAATAA	0.448000													24	54					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931118	150931118	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:150931118A>C	ENST00000309170.3	-	3	1299	c.987T>G	c.(985-987)aaT>aaG	p.N329K	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.N329K|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	329						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGTGTTGTATTTCCTCTTT	0.368000													74	147					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128339516	128339516	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:128339516C>T	ENST00000389524.4	+	11	1184	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	MYO7B_ENST00000428314.1_Silent_p.I377I|MYO7B_ENST00000409816.2_Silent_p.I377I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	377	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATCCTCATCCGAGGGGAAT	0.627000													45	83					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60599564	60599564	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:60599564G>A	ENST00000582809.1	+	5	409		c.e5-1		TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site			Q86UE8	TLK2_HUMAN	tousled-like kinase 2						cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GTATTTGACAGACTCCCGAGA	0.323000													10	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584047	179584047	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:179584047C>T	ENST00000589042.1	-	83	24294	c.24070G>A	c.(24070-24072)Gag>Aag	p.E8024K	TTN_ENST00000591111.1_Missense_Mutation_p.E7707K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6780K|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7707	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAACAATCTCATTTCCATCC	0.512000													97	250					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933552	44933552	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:44933552C>T	ENST00000291187.4	-	6	1708	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.K468K	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGAATCCCTTTCCACACT	0.552000													38	39					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98942012	98942012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:98942012C>T	ENST00000432884.2	+	6	586	c.125C>T	c.(124-126)aCc>aTc	p.T42I	ARPC1A_ENST00000262942.5_Missense_Mutation_p.T89I			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	89					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAAGCCAACCCTGGTGATC	0.512000													91	102					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285787	238285787	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:238285787G>A	ENST00000295550.4	-	7	3150	c.2698C>T	c.(2698-2700)Ctg>Ttg	p.L900L	COL6A3_ENST00000392004.3_Silent_p.L694L|COL6A3_ENST00000472056.1_Silent_p.L293L|COL6A3_ENST00000409809.1_Silent_p.L694L|COL6A3_ENST00000392003.2_Silent_p.L493L|COL6A3_ENST00000347401.3_Silent_p.L699L|COL6A3_ENST00000353578.4_Silent_p.L694L|COL6A3_ENST00000346358.4_Silent_p.L700L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	900	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAAGATTCAGGATCTCAGGC	0.517000													52	48					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52258209	52258209	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:52258209G>A	ENST00000494383.1	-	5	582	c.583C>T	c.(583-585)Cct>Tct	p.P195S	TLR9_ENST00000360658.2_Silent_p.G41G|TLR9_ENST00000597542.1_Silent_p.G65G			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGTTCACCAGGCCGTGGGGCT	0.622000													27	54					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53879058	53879058	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:53879058C>T	ENST00000474037.1	+	3	185	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF525_ENST00000593918.1_Silent_p.F17F|ZNF525_ENST00000491101.1_Silent_p.F17F|ZNF525_ENST00000475179.1_Silent_p.F17F|ZNF525_ENST00000467003.1_5'UTR					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						CCATAGAATTCTCTCAGGAGG	0.448000													10	194					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58620639	58620639	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:58620639G>A	ENST00000317147.5	-	7	779	c.447C>T	c.(445-447)atC>atT	p.I149I	CNOT1_ENST00000569240.1_Silent_p.I149I|CNOT1_ENST00000441024.2_Silent_p.I149I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	149					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTTCTGTTTGATAAACTGGG	0.413000													131	209					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39878705	39878705	+	Silent	SNP	T	T	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:39878705T>A	ENST00000303538.8	-	19	2600	c.2061A>T	c.(2059-2061)ctA>ctT	p.L687L		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	687					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CCTCCATTCTTAGGCACTGTA	0.408000													59	77					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133365751	133365751	+	Silent	SNP	G	G	A	rs80194721	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:133365751G>A	ENST00000204726.3	-	13	3231	c.2673C>T	c.(2671-2673)caC>caT	p.H891H	GOLGA3_ENST00000450791.2_Silent_p.H891H|GOLGA3_ENST00000537452.1_Silent_p.H891H|GOLGA3_ENST00000545875.1_Silent_p.H891H|GOLGA3_ENST00000456883.2_Silent_p.H891H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	891					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTTCTCCCCGTGCACTTGCA	0.637000													5	96					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15382643	15382643	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:15382643C>T	ENST00000376030.2	+	5	1077	c.783C>T	c.(781-783)gcC>gcT	p.A261A	KAZN_ENST00000400797.3_Silent_p.A167A|KAZN_ENST00000361144.5_Silent_p.A255A|KAZN_ENST00000503743.1_Silent_p.A261A|KAZN_ENST00000422387.2_Silent_p.A261A|KAZN_ENST00000400798.2_Silent_p.A167A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	261	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATTCCCTCGCCATGCCGGGCG	0.602000													28	65					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39261635	39261635	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:39261635G>A	ENST00000280481.7	+	1	370	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	52					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGCTGCCTTCGGCAGGGCGTT	0.706000													6	8					0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21215482	21215482	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:21215482A>G	ENST00000382778.4	+	19	2772	c.1654A>G	c.(1654-1656)Aaa>Gaa	p.K552E	IFT88_ENST00000319980.6_Missense_Mutation_p.K552E|IFT88_ENST00000537103.1_Missense_Mutation_p.K524E|IFT88_ENST00000351808.5_Missense_Mutation_p.K543E			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	552					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CTGTTTCCTGAAACTTCACGC	0.338000													28	19					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490846	157490846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:157490846C>T	ENST00000361835.3	-	11	2633	c.2476G>A	c.(2476-2478)Ggg>Agg	p.G826R	FCRL5_ENST00000356953.4_Missense_Mutation_p.G826R|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	826	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.G826R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTGGGCCCCGAGGCCATTG	0.567000													28	71					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486474	128486474	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:128486474G>A	ENST00000325888.8	+	23	4345	c.4084G>A	c.(4084-4086)Ggt>Agt	p.G1362S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1362S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1362					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCCTGGAGGGTGGCTTGGT	0.632000													6	156					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115576111	115576111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:115576111G>A	ENST00000371900.4	+	6	770	c.682G>A	c.(682-684)Gga>Aga	p.G228R		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	228					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACGGTCAAGTGGAATGAATGA	0.373000													55	29					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142851	31142851	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:31142851G>A	ENST00000304166.4	+	14	1336	c.1046_splice	c.e14-1	p.L349_splice	ADCYAP1R1_ENST00000409489.1_Splice_Site_p.L405_splice|ADCYAP1R1_ENST00000409363.1_Splice_Site_p.L328_splice|ADCYAP1R1_ENST00000396211.2_Splice_Site_p.L377_splice	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	349					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CCTCCGACAGGCGACTGGCCC	0.577000													24	268					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712822	1712822	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:1712822C>T	ENST00000397412.3	+	13	2755	c.2656C>T	c.(2656-2658)Cca>Tca	p.P886S	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P883S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P886S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P264S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	886						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCTGCGGAAGCCACTGGTGGT	0.597000													14	32					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142850	31142850	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:31142850G>A	ENST00000304166.4	+	14	1335		c.e14-1		ADCYAP1R1_ENST00000409489.1_Splice_Site|ADCYAP1R1_ENST00000409363.1_Splice_Site|ADCYAP1R1_ENST00000396211.2_Splice_Site	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCCTCCGACAGGCGACTGGCC	0.577000													24	272					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81596952	81596952	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:81596952G>A	ENST00000356860.3	-	30	2761	c.2423C>T	c.(2422-2424)tCc>tTc	p.S808F	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S20F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S820F	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	820						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCTATCCAGGAATTTACATC	0.244000													15	31					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62340966	62340966	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:62340966G>A	ENST00000371158.2	+	21	3001	c.2887G>A	c.(2887-2889)Gga>Aga	p.G963R	INADL_ENST00000316485.6_Missense_Mutation_p.G963R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	963					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCAACTGAAGGAAACAGTCA	0.338000													53	83					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				101	175					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64147735	64147735	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:64147735G>A	ENST00000354504.3	-	11	2026	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S	VPS54_ENST00000409558.3_Silent_p.S620S|VPS54_ENST00000272322.4_Silent_p.S632S			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	632					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGAATTCCATGGAATTTAGCT	0.328000													8	64					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38323782	38323782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:38323782C>T	ENST00000264645.7	+	9	1794	c.1568C>T	c.(1567-1569)tCa>tTa	p.S523L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	523	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAACGCTATTCATCCCAGCGG	0.493000													31	35					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177437	153177437	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:153177437C>T	ENST00000368747.1	+	2	364	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	85	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCATCCTGCCCACAT	0.642000													14	28					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30558470	30558470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:30558470C>T	ENST00000326195.8	+	25	2642	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	ABCF1_ENST00000396515.4_Nonsense_Mutation_p.R237*|ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R806*	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	844					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	p.R844R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGCCGGCCCCGAGAGTGAGC	0.567000													68	100					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713728	67713728	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:67713728G>A	ENST00000335894.4	+	16	2384	c.2318G>A	c.(2317-2319)gGg>gAg	p.G773E	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.G430E|IQCH_ENST00000360277.4_Missense_Mutation_p.G434E|IQCH_ENST00000358767.3_Missense_Mutation_p.G509E	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	773										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)		CTGTCGACAGGGGACCAGCTT	0.537000													35	63					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156437412	156437412	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:156437412G>A	ENST00000392741.2	+	2	323	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.E79K|RNF32_ENST00000432459.2_Missense_Mutation_p.E79K|RNF32_ENST00000405335.1_Missense_Mutation_p.E79K|RNF32_ENST00000392740.1_Missense_Mutation_p.E79K|RNF32_ENST00000317955.5_Missense_Mutation_p.E79K|RNF32_ENST00000343665.4_Missense_Mutation_p.E79K|RNF32_ENST00000311822.8_Missense_Mutation_p.E79K			Q9H0A6	RNF32_HUMAN	ring finger protein 32	79						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTCAGAAAAAGAATATGTTCT	0.358000													22	282					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117351971	117351971	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:117351971G>A	ENST00000321322.6	-	13	2755	c.2754C>T	c.(2752-2754)gaC>gaT	p.D918D	DSCAML1_ENST00000527706.1_Silent_p.D648D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	858	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTCCCCACGGTCAGCGGGCT	0.592000													35	31					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2722538	2722538	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:2722538C>T	ENST00000320876.6	+	20	2818	c.2480C>T	c.(2479-2481)tCa>tTa	p.S827L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S827L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	827					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAGAAATTTTCATTTGGTCTT	0.368000													49	94					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101368623	101368623	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:101368623G>A	ENST00000392979.3	+	6	814	c.452_splice	c.e6-1	p.R151_splice	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Splice_Site_p.R186_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	186						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTTCTTCCAGGAGAAAAATCT	0.468000										HNSCC(74;0.22)			51	125					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								5	47					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67688755	67688755	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:67688755G>A	ENST00000334583.6	+	32	3985	c.3657G>A	c.(3655-3657)agG>agA	p.R1219R	RLTPR_ENST00000545661.1_Silent_p.R1183R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1219										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCTGCAGAGGATAGGCGTCA	0.597000													54	76					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737337	74737337	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:74737337T>G	ENST00000370895.1	+	7	727	c.692T>G	c.(691-693)gTt>gGt	p.V231G	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.V231G|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.V231G|TNNI3K_ENST00000326637.3_Missense_Mutation_p.V130G|TNNI3K_ENST00000370891.2_Missense_Mutation_p.V231G			Q59H18	TNI3K_HUMAN		130						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.V130D(1)									ATACAGCAGGTTGGATACGGT	0.428000													20	245					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254660	30254660	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:30254660C>T	ENST00000361644.2	+	5	1356	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	MAGEB3_ENST00000378986.1_Missense_Mutation_p.L207F	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	207	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCTGCTGAATCTCCTGGGCGT	0.478000													33	16					0	0	1	0	0
ZNF581	51545	broad.mit.edu	37	19	56156207	56156207	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:56156207C>T	ENST00000587252.1	+	2	543	c.270C>T	c.(268-270)ccC>ccT	p.P90P	ZNF581_ENST00000588537.1_Silent_p.P90P|ZNF581_ENST00000270451.5_Silent_p.P90P			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ACAGCTGCCCCGTGTGCTCAA	0.587000													44	47					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57126684	57126684	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:57126684G>A	ENST00000376149.3	-	15	1828	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	TRIM37_ENST00000262294.7_Missense_Mutation_p.P462L|TRIM37_ENST00000393066.3_Missense_Mutation_p.P462L|TRIM37_ENST00000393065.2_Missense_Mutation_p.P428L			O94972	TRI37_HUMAN	tripartite motif containing 37	462	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATCATTTTGGGGGCTAAGATG	0.428000									Mulibrey Nanism				24	96					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145749	21145749	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21145749C>T	ENST00000261383.3	-	7	912	c.913G>A	c.(913-915)Gag>Aag	p.E305K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E305K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	305	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGTTTTCTCTCCATTGGGTCC	0.488000													50	127					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147488344	147488344	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:147488344G>A	ENST00000359874.3	+	18	1709	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	SPINK5_ENST00000398454.1_Missense_Mutation_p.D546N|SPINK5_ENST00000256084.7_Missense_Mutation_p.D546N	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	546	Kazal-like 8.				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			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)			gaagaaaaatgataaagaaga	0.333000													54	36					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148603912	148603912	+	Silent	SNP	A	A	T	rs139521475	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:148603912A>T	ENST00000296046.3	+	10	1066	c.1014A>T	c.(1012-1014)ctA>ctT	p.L338L	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	338					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGATGTTCTATCAACTCGAT	0.348000													31	55					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664808	16664808	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:16664808C>T	ENST00000443444.2	+	13	3582	c.3442C>T	c.(3442-3444)Ctt>Ttt	p.L1148F	CCDC144A_ENST00000456009.1_Missense_Mutation_p.L914F|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L1148F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L1148F|CCDC144A_ENST00000360524.8_Missense_Mutation_p.L1148F			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1148																	GAATGAAGTTCTTCAACTTCA	0.353000													11	8					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61298806	61298806	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:61298806C>T	ENST00000402291.1	+	4	457	c.216C>T	c.(214-216)tcC>tcT	p.S72S	KIAA1841_ENST00000356719.2_Silent_p.S72S|KIAA1841_ENST00000295031.5_Silent_p.S72S|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.S72S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	72										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGTATAATTCCCTAATGGCTG	0.398000													47	105					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33496585	33496585	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:33496585G>A	ENST00000265371.4	-	11	2199	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	NRP1_ENST00000374816.3_Silent_p.S558S|NRP1_ENST00000374821.5_Silent_p.S558S|NRP1_ENST00000374867.2_Silent_p.S558S|NRP1_ENST00000374822.4_Silent_p.S558S|NRP1_ENST00000374823.5_Silent_p.S558S|NRP1_ENST00000395995.1_Silent_p.S558S|NRP1_ENST00000466932.1_Intron			O14786	NRP1_HUMAN	neuropilin 1	558	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGAATCGCGTGGAGAGAGCTG	0.493000													53	123					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862691	154862691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:154862691G>A	ENST00000287907.2	+	1	658	c.82G>A	c.(82-84)Gac>Aac	p.D28N	AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	28						integral to plasma membrane	serotonin receptor activity	p.D28H(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGGCAAAGACGACCTGCGCCC	0.607000													108	143					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261702	21261702	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21261702G>A	ENST00000311620.5	+	2	888	c.815G>A	c.(814-816)gGa>gAa	p.G272E		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	272										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCAGGTCTAGGAAGTATTGTT	0.453000													44	43					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31592753	31592753	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:31592753C>T	ENST00000319386.3	+	2	1108	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	CCDC129_ENST00000451887.2_Missense_Mutation_p.P65S|CCDC129_ENST00000407970.3_Missense_Mutation_p.P39S|CCDC129_ENST00000482748.1_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	39										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAGTGGCTGCCCCCTGACCC	0.547000													5	13					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52020287	52020287	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:52020287A>G	ENST00000458031.2	+	8	877	c.646A>G	c.(646-648)Agg>Ggg	p.R216G	ACY1_ENST00000476854.1_Missense_Mutation_p.R126G|ACY1_ENST00000476351.1_Missense_Mutation_p.R91G|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000404366.2_Missense_Mutation_p.R126G|ACY1_ENST00000494103.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R227G			Q03154	ACY1_HUMAN	aminoacylase 1	126					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GGAAGCTGTGAGGAGGCTGAA	0.637000													23	37					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261053	21261053	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21261053G>A	ENST00000311620.5	+	2	239	c.164_splice	c.e2-1	p.G56_splice		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	56										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTCTTCTAGAGGGGACCCTGA	0.438000													17	40					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35706305	35706305	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:35706305G>A	ENST00000314888.9	-	40	5602	c.5249C>T	c.(5248-5250)tCc>tTc	p.S1750F	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.S1734F	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1750	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGGTCTTGGAGGCAGCACC	0.602000													181	50					0	0	1	0	0
FAM120AOS	158293	broad.mit.edu	37	9	96214705	96214705	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:96214705G>C	ENST00000375412.5	-	1	1169	c.287C>G	c.(286-288)cCc>cGc	p.P96R	FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000333936.5_Intron|FAM120A_ENST00000340893.4_Intron	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	96	Arg-rich.									kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						ccggggaccggggccgcgccg	0.746000													8	5					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457420	27457420	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:27457420G>A	ENST00000316403.10	-	7	1446	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	CLU_ENST00000405140.3_Silent_p.S347S|CLU_ENST00000560366.1_Silent_p.S399S|CLU_ENST00000546343.1_Silent_p.S358S|CLU_ENST00000523500.1_Silent_p.S347S			P10909	CLUS_HUMAN	clusterin	347					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TCCACTGGTAGGACTTTAGCA	0.582000													8	34					0	0	1	0	0
FAM104A	84923	broad.mit.edu	37	17	71228295	71228295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:71228295G>A	ENST00000405159.3	-	1	215	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	FAM104A_ENST00000583024.1_Missense_Mutation_p.P51S|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Missense_Mutation_p.P51S|FAM104A_ENST00000403627.3_Missense_Mutation_p.P51S	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	51										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			CGAAGAGAGGGAACAGAGGGG	0.701000													16	17					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5862774	5862774	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:5862774C>A	ENST00000324989.7	-	3	722	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	CRMP1_ENST00000512574.1_Missense_Mutation_p.V96L|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.V98L	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	98					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTCCCGCCCACCAGTGCCGCC	0.577000													14	42					2.61681e-11	2.68245e-11	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86873069	86873069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:86873069C>T	ENST00000373119.4	+	4	1007	c.862C>T	c.(862-864)Cga>Tga	p.R288*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.R288*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	288						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			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						CTTAGGGATTCGATCATTTGG	0.418000													60	21					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629125	122629125	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:122629125G>A	ENST00000357599.3	-	23	3707	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.I1161I	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1107					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTCATCAGGGATCAAGTTAT	0.537000													37	76					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43906967	43906967	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:43906967G>A	ENST00000562955.1	+	52	7256	c.7256G>A	c.(7255-7257)cGg>cAg	p.R2419Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R1577Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2476						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCGGGGCCGGAGGCGTCAC	0.557000													78	115					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962802	96962802	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:96962802C>A	ENST00000389672.5	+	5	1315	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	EPHA6_ENST00000470610.2_Missense_Mutation_p.P426H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	331	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTAGGGCCACCTTCAGCTCCT	0.378000													5	23					0.014758	0.0148549	1	1	0
OXCT2	64064	broad.mit.edu	37	1	40236031	40236031	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:40236031C>G	ENST00000327582.5	-	1	989	c.897G>C	c.(895-897)agG>agC	p.R299S	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	299					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGATGCGCGTCCTGGCGTCCT	0.537000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	69					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160506	70160506	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:70160506G>A	ENST00000335568.5	+	6	1571	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	523					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTAGAAAAGGGAAGAAGGGAA	0.388000													20	78					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993535	8993535	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:8993535C>T	ENST00000397910.4	-	66	41757	c.41554G>A	c.(41554-41556)Gat>Aat	p.D13852N	MUC16_ENST00000380951.5_Missense_Mutation_p.D493N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13855	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTCCCCATCTTTCTCTGGC	0.592000													10	66					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534053	241534053	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:241534053C>T	ENST00000391984.2	+	6	1120	c.924C>T	c.(922-924)ttC>ttT	p.F308F	CAPN10_ENST00000391982.2_Silent_p.F308F|CAPN10_ENST00000354082.4_Silent_p.F308F|CAPN10_ENST00000404753.3_Silent_p.F308F|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	308	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGGAGGAGTTCCTCAGGGAGT	0.642000													65	35					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31598499	31598499	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31598499T>C	ENST00000376033.2	+	15	2620	c.2386T>C	c.(2386-2388)Ttc>Ctc	p.F796L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F796L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	796	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGGAGATGTCTTCACCGCCAC	0.587000													4	46					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43683080	43683080	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:43683080C>T	ENST00000599812.1	-	3	755	c.660G>A	c.(658-660)cgG>cgA	p.R220R	PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000366175.3_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	127	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCACTGGGTTCCGTATTTCAC	0.493000													181	290					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290506	132290506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:132290506C>T	ENST00000295171.6	+	6	1084	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P250S	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTAGCTTTCCCAGGTGAGT	0.647000													32	86					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993358	24993358	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:24993358C>T	ENST00000323848.9	+	13	1996	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P573S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P570S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	561	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCGACGGTCTCCTTCTCCCGC	0.507000													24	38					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906375	5906375	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:5906375C>T	ENST00000316987.2	+	1	875	c.853C>T	c.(853-855)Cca>Tca	p.P285S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGTTGTCCCACCTGCCCT	0.378000													50	110					0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43624373	43624373	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:43624373G>A	ENST00000372165.4	+	4	591	c.538G>A	c.(538-540)Gag>Aag	p.E180K	RSPH9_ENST00000372163.4_Missense_Mutation_p.E195K	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	195					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGAGCCTGTTGAGCTAAAGAA	0.493000									Kartagener syndrome				182	286					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917684	4917684	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:4917684G>A	ENST00000399583.3	-	2	274	c.87C>T	c.(85-87)tcC>tcT	p.S29S	RADIL_ENST00000536091.1_Silent_p.S29S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	29					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCAGCGTCCGGGACAGCATGC	0.627000													9	15					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128396952	128396952	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:128396952C>T	ENST00000409455.1	-	10	1550	c.915G>A	c.(913-915)gaG>gaA	p.E305E	LIMS2_ENST00000409808.2_Silent_p.E305E|LIMS2_ENST00000409254.1_Silent_p.E158E|LIMS2_ENST00000355119.4_Silent_p.E310E|LIMS2_ENST00000410038.1_Silent_p.E158E|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000409754.1_Silent_p.E158E|LIMS2_ENST00000324938.5_Silent_p.E334E|LIMS2_ENST00000545738.2_Silent_p.E332E|LIMS2_ENST00000409286.1_Silent_p.E158E|LIMS2_ENST00000410011.1_Silent_p.E305E			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	310	LIM zinc-binding 5.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCGGGAACTTCTCGTAGCACC	0.587000													117	221					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467305	133467305	+	Silent	SNP	G	G	A	rs144163861		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:133467305G>A	ENST00000402696.3	+	2	578	c.93G>A	c.(91-93)tcG>tcA	p.S31S	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	31	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GTGCAGTGTCGGAGCATGAGG	0.562000													15	60					0	0	1	0	0
ARMC4P1	101060171	broad.mit.edu	37	10	27577640	27577640	+	RNA	SNP	G	G	T	rs3818746	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:27577640G>T	ENST00000576034.1	+	0	530																											AACTGTTAGCGATAGCTCCTC	0.403000													3	37					1	1	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18534812	18534812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:18534812C>T	ENST00000433979.1	+	13	1986	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Q624*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Q665*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	624					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGTGACCCTGCAGGTAAGTGC	0.448000													12	97					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002745	132002745	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:132002745C>T	ENST00000286355.5	-	2	3096	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G335E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	335					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATGAAGATTCCAGCTGTGTT	0.507000										HNSCC(32;0.087)			81	108					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31451712	31451712	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:31451712G>A	ENST00000511367.2	-	20	2854	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	DROSHA_ENST00000442743.1_Silent_p.I833I|DROSHA_ENST00000513349.1_Silent_p.I833I|DROSHA_ENST00000344624.3_Silent_p.I870I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	870	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			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGTGGTAGCGGATATGATGGG	0.333000													17	14					0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337269	6337269	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:6337269G>A	ENST00000507444.1	-	0	136					NR_028351.1																						TCACCATCACGATACCATTGC	0.502000													67	44					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370559	38370559	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:38370559C>T	ENST00000322350.5	+	6	1053	c.707C>T	c.(706-708)aCc>aTc	p.T236I	EGFLAM_ENST00000354891.3_Missense_Mutation_p.T236I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	236	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCATCCGGACCCTCTGTGAG	0.577000													15	8					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39626118	39626118	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:39626118C>T	ENST00000331163.6	-	5	1359	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	PDGFB_ENST00000381551.4_Missense_Mutation_p.R176Q	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	191					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CCCCGGGCTTCGGGTCACAGG	0.627000			T	COL1A1	DFSP								43	64					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714483	183714483	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:183714483G>A	ENST00000511685.1	+	26	6781	c.6658G>A	c.(6658-6660)Ggc>Agc	p.G2220S	TENM3_ENST00000406950.2_Missense_Mutation_p.G2220S					teneurin transmembrane protein 3																		TTACAGTAAAGGCAGTGGCTG	0.463000													19	54					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182836128	182836128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:182836128C>T	ENST00000367549.3	+	14	1617	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	503	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCAGGCATTCGAGGAATCAG	0.308000													102	154					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71002892	71002892	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:71002892C>G	ENST00000334414.6	-	4	980	c.936G>C	c.(934-936)agG>agC	p.R312S	PTPRB_ENST00000261266.5_Missense_Mutation_p.R94S|PTPRB_ENST00000550857.1_Missense_Mutation_p.R94S|PTPRB_ENST00000551525.1_Missense_Mutation_p.R311S|PTPRB_ENST00000550358.1_Missense_Mutation_p.R312S|PTPRB_ENST00000538708.1_Missense_Mutation_p.R94S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.R94S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	94	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGAAATAATCCTGAAGTTAT	0.498000													7	108					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139222	101139222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:101139222G>A	ENST00000372782.3	-	7	1224	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	ZMAT1_ENST00000540921.1_Nonsense_Mutation_p.Q393*|ZMAT1_ENST00000458570.1_Nonsense_Mutation_p.Q222*|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	222						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGTTCATCTTGGAAAGAATCA	0.428000													89	169					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809020	48809020	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:48809020C>T	ENST00000309835.3	+	1	1258	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	STON1-GTF2A1L_ENST00000402114.2_Silent_p.S416S|STON1_ENST00000406226.1_Silent_p.S416S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S416S|STON1_ENST00000404752.1_Silent_p.S416S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S416S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S416S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S416S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGAAATTTCCTTGGAAATTG	0.393000													37	199					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361251	70361251	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:70361251G>A	ENST00000305107.6	-	1	375	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B4_ENST00000512583.1_Missense_Mutation_p.S110L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	110					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTACTTGTGAAAAATATGA	0.323000													14	18					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360875	70360875	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:70360875G>A	ENST00000305107.6	-	1	751	c.705C>T	c.(703-705)ttC>ttT	p.F235F	UGT2B4_ENST00000512583.1_Silent_p.F235F|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.F99F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	235					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTCACTGTAGAACTGATCCC	0.328000													29	42					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109968440	109968440	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:109968440G>A	ENST00000342494.3	+	26	3494	c.2899G>A	c.(2899-2901)Gat>Aat	p.D967N	UBE3B_ENST00000535089.1_Missense_Mutation_p.D54N|UBE3B_ENST00000434735.2_Missense_Mutation_p.D967N	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	967	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTTCACACCGGATGAGAGAGC	0.428000													42	93					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087944	9087944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:9087944G>A	ENST00000397910.4	-	1	4074	c.3871C>T	c.(3871-3873)Cat>Tat	p.H1291Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1291	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGATACATGAATGTGGGTC	0.483000													127	169					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770101	87770101	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:87770101C>T	ENST00000273905.6	-	1	315	c.168G>A	c.(166-168)cgG>cgA	p.R56R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	56						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACCACAGCTTCCGGATCTCCA	0.547000													11	30					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389947	150389947	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150389947G>A	ENST00000223293.5	+	3	667	c.573G>A	c.(571-573)caG>caA	p.Q191Q		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	191						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGCAATCAGGATGACCAAG	0.453000													167	191					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531908	50531908	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:50531908C>T	ENST00000374144.3	+	3	1606	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P440S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	440										endometrium(1)	1						TTATGATCCCCCCTTTAACAT	0.527000													51	32					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170895116	170895116	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:170895116G>A	ENST00000436636.2	-	8	1037	c.694_splice	c.e8+1	p.P231_splice	TNIK_ENST00000369326.5_Splice_Site_p.P231_splice|TNIK_ENST00000357327.5_Splice_Site_p.P231_splice|TNIK_ENST00000284483.8_Splice_Site_p.P231_splice|TNIK_ENST00000341852.6_Splice_Site_p.P231_splice|TNIK_ENST00000475336.1_Splice_Site_p.P231_splice|TNIK_ENST00000488470.1_Splice_Site_p.P231_splice|TNIK_ENST00000538048.1_Splice_Site_p.P231_splice|TNIK_ENST00000460047.1_Splice_Site_p.P231_splice|TNIK_ENST00000470834.1_Splice_Site_p.P231_splice	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	231	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTACTTACGGGGAGCACCTT	0.493000													9	16					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248058996	248058996	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:248058996C>T	ENST00000537741.1	+	3	365	c.108C>T	c.(106-108)ctC>ctT	p.L36L	OR2W3_ENST00000360358.3_Silent_p.L36L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TCGCGTACCTCCTGACCCTCG	0.577000													64	113					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150266617	150266617	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:150266617C>T	ENST00000367351.3	+	2	331	c.258C>T	c.(256-258)gcC>gcT	p.A86A		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	86	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCACAACGGCCTGGAAAGCAC	0.483000													85	196					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516168	140516168	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140516168C>T	ENST00000231134.5	+	1	1369	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		384	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCTCCATCCAGAATGATC	0.483000													27	62					0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58520058	58520058	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:58520058G>A	ENST00000358293.3	+	5	1475	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	FAM217B_ENST00000360816.3_Missense_Mutation_p.G354R	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	354																	TAGGAAAAAGGGAAAGGCAGA	0.423000													21	126					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201429	187201429	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:187201429G>A	ENST00000264692.4	+	9	1095	c.762G>A	c.(760-762)ctG>ctA	p.L254L	F11_ENST00000403665.2_Silent_p.L306L			P03951	FA11_HUMAN	coagulation factor XI	306	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GAGAAGAACTGGATATTGTTG	0.488000													98	146					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77475293	77475293	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:77475293C>T	ENST00000299543.7	+	8	1980	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	CTDP1_ENST00000075430.7_Silent_p.Y611Y	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	611					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ATGACCGCTACCTCAACAAGG	0.562000													3	12					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170416995	170416995	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:170416995C>A	ENST00000453153.2	-	5	1219	c.873G>T	c.(871-873)aaG>aaT	p.K291N	FASTKD1_ENST00000453929.2_Missense_Mutation_p.K291N	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	291					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CAGTTAGCTTCTTTTTAGCCA	0.328000													31	268					4.74835e-14	4.88379e-14	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43327234	43327234	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:43327234G>A	ENST00000380486.3	-	10	1426	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	C2CD2_ENST00000329623.7_Silent_p.I240I	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	395						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CAGGGGGAGGGATGGGCCAGG	0.527000													13	33					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703727	55703727	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:55703727C>T	ENST00000301532.3	-	1	149	c.150G>A	c.(148-150)ttG>ttA	p.L50L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	50			L -> S (in dbSNP:rs4367963).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L50L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATCCTGATCAACAGCATCA	0.403000													41	78					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49412401	49412401	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:49412401G>A	ENST00000299191.3	+	3	408	c.291G>A	c.(289-291)agG>agA	p.R97R		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	97										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGAGATTCAGGAAGGACGCCG	0.572000													6	10					0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101342518	101342518	+	Silent	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:101342518C>A	ENST00000296420.4	-	8	763	c.585G>T	c.(583-585)gtG>gtT	p.V195V	EMCN_ENST00000511970.1_Silent_p.V182V|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	195						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AAGCAATAACCACCGGCAAAA	0.393000													19	71					5.03518e-11	5.15287e-11	1	1	0
UNC79	57578	broad.mit.edu	37	14	94063865	94063865	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:94063865C>T	ENST00000553484.1	+	24	3505	c.3351C>T	c.(3349-3351)acC>acT	p.T1117T	UNC79_ENST00000555664.1_Silent_p.T1117T|UNC79_ENST00000256339.4_Silent_p.T940T|UNC79_ENST00000393151.2_Silent_p.T1117T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1117						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCTTGACACCATAAAGAGGC	0.517000													34	28					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405705	106405705	+	RNA	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:106405705C>T	ENST00000390593.2	-	0	320																											GATGGTTATTCGACTTTTCAC	0.493000													101	148					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309123	21309123	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:21309123G>A	ENST00000417816.2	-	3	525	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	NEBL_ENST00000377159.4_Missense_Mutation_p.P24S	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	720				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACTGCTTCGGGTAGTGTCTG	0.413000													38	27					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4683576	4683576	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:4683576G>A	ENST00000262960.9	-	19	2521	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Silent_p.I719I|DPP9_ENST00000598800.1_Silent_p.I719I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	719					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCTCAGGTCGATGAAGCCAT	0.632000													27	69					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58538065	58538065	+	Silent	SNP	A	A	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:58538065A>G	ENST00000083182.3	-	9	1307	c.1020T>C	c.(1018-1020)tcT>tcC	p.S340S	APPBP2_ENST00000592995.1_5'UTR	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	340				S -> C (in Ref. 1; AAC83973).	intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGTGGACATAAGAAGAGTAGG	0.383000													30	36					0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152437	58152437	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:58152437G>A	ENST00000266643.5	+	4	1229	c.798G>A	c.(796-798)aaG>aaA	p.K266K	MARCH9_ENST00000548358.1_Silent_p.K153K	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	266						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATTATGACAAGACCAAGGACA	0.607000													25	27					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283600	152283600	+	Silent	SNP	C	C	T	rs138551548		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:152283600C>T	ENST00000368799.1	-	3	3797	c.3762G>A	c.(3760-3762)caG>caA	p.Q1254Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1254	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATTGTTCCTGTCCCACCT	0.562000									Ichthyosis				81	354					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907707	23907707	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:23907707G>A	ENST00000382298.3	-	10	10896	c.10308C>T	c.(10306-10308)atC>atT	p.I3436I	SACS_ENST00000382292.3_Silent_p.I3436I|SACS_ENST00000402364.1_Silent_p.I2686I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3436					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCTGAAGGGATACTTTTTG	0.358000													12	125					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39408669	39408669	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:39408669G>C	ENST00000257408.4	+	1	197	c.100G>C	c.(100-102)Gga>Cga	p.G34R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	34					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTCCAACGGGGGATTGCAAAG	0.438000													23	80					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555533	44555533	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:44555533G>A	ENST00000289547.4	-	19	3801	c.3746C>T	c.(3745-3747)cCt>cTt	p.P1249L	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P1176L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P1222L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1249					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGGATGCCAGGCAGGTTGGT	0.622000													34	37					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691824	142691824	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:142691824C>T	ENST00000230173.6	+	4	1439	c.963C>T	c.(961-963)atC>atT	p.I321I	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Silent_p.I321I|GPR126_ENST00000296932.8_Silent_p.I321I|GPR126_ENST00000367608.2_Silent_p.I321I	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	321	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATGCCAAAATCCTCTCCAACC	0.393000													46	215					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238898	48238898	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:48238898C>T	ENST00000309562.2	+	1	555	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTGTGACCTCCAGCCTTTAT	0.478000													70	136					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157506	22157506	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:22157506A>T	ENST00000397126.4	-	4	478	c.330T>A	c.(328-330)aaT>aaA	p.N110K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTAAGTGTAAATTCTCATGTC	0.353000													7	91					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415480	10415480	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:10415480G>A	ENST00000226207.5	-	13	1271	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	393	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGAGTTCAGATTTTGGAGA	0.468000													61	191					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123343991	123343991	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:123343991C>T	ENST00000253083.4	+	23	2439	c.2314C>T	c.(2314-2316)Cta>Tta	p.L772L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	772	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCCAAGAGCCTAGATGTGCG	0.637000													21	61					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724371	38724371	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:38724371C>A	ENST00000342213.2	-	1	1203	c.857G>T	c.(856-858)tGt>tTt	p.C286F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	286	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACTGGTCACACAAGAGCGGCC	0.667000													5	140					0.000602214	0.000607167	1	1	0
CIT	11113	broad.mit.edu	37	12	120241108	120241108	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:120241108G>A	ENST00000392521.2	-	10	1252	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	CIT_ENST00000261833.7_Silent_p.S399S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	399	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGCACGGAGAGGATGAAACCC	0.517000													52	89					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033868	21033868	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:21033868G>A	ENST00000381545.3	+	12	1630	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E471K|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E471K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E471K	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	471	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGTCAGTGGGAACCAGTCTG	0.368000													91	153					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670881	186670881	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:186670881G>A	ENST00000343098.5	+	17	17115	c.17115G>A	c.(17113-17115)agG>agA	p.R5705R	FSIP2_ENST00000424728.1_Silent_p.R5616R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAATGCAAGGGAAAGCTCAT	0.328000													49	170					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953239	140953239	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140953239G>A	ENST00000253811.6	-	16	2318	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	DIAPH1_ENST00000389057.5_Silent_p.I717I|DIAPH1_ENST00000398557.4_Silent_p.I726I|DIAPH1_ENST00000520569.1_Silent_p.I672I|DIAPH1_ENST00000518047.1_Silent_p.I717I|DIAPH1_ENST00000398562.2_Silent_p.I705I|DIAPH1_ENST00000398566.3_Silent_p.I717I|DIAPH1_ENST00000389054.3_Silent_p.I726I			O60610	DIAP1_HUMAN	diaphanous-related formin 1	726	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGGAGGGATTCCAGGAC	0.617000													19	10					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47739512	47739512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:47739512G>A	ENST00000406134.1	+	16	2767	c.2705G>A	c.(2704-2706)gGa>gAa	p.G902E	MSH2_ENST00000461394.1_3'UTR			P43246	MSH2_HUMAN	mutS homolog 2	0					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCGTGGGGGAAAGAGATCT	0.483000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				12	18					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704047	60704047	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:60704047C>T	ENST00000005286.4	+	11	2896	c.2743C>T	c.(2743-2745)Cct>Tct	p.P915S	TMEM132A_ENST00000453848.2_Missense_Mutation_p.P914S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	914	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGGCAGTCCCCTGGCCCGCC	0.726000													13	32					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462417	5462417	+	Missense_Mutation	SNP	C	C	A	rs112191372	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:5462417C>A	ENST00000345221.3	-	4	2153	c.1599G>T	c.(1597-1599)caG>caT	p.Q533H	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.Q533H|NLRP1_ENST00000262467.5_Missense_Mutation_p.Q533H|NLRP1_ENST00000354411.3_Missense_Mutation_p.Q533H|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q533H|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q533H	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	533	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCGCTTCATCTGCTGCATCA	0.537000													5	143					1.23904e-05	1.25335e-05	1	1	0
ARSJ	79642	broad.mit.edu	37	4	114823829	114823829	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:114823829G>A	ENST00000315366.7	-	2	2267	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	ARSJ_ENST00000541197.1_Silent_p.V467V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	467						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ACTGAGGGGGGACCCAGTCGC	0.537000													54	61					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54280841	54280841	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:54280841T>C	ENST00000507166.1	+	11	875	c.875T>C	c.(874-876)gTt>gCt	p.V292A	FIP1L1_ENST00000358575.5_Missense_Mutation_p.V277A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.V277A|FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000337488.6_Missense_Mutation_p.V292A			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	292	Necessary for stimulating PAPOLA activity.				mRNA processing	nucleus	RNA binding			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)			AATTCAAGCGTTGGGAAGTGG	0.398000			T	PDGFRA	idiopathic hypereosinophilic syndrome								15	54					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98501098	98501098	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:98501098C>T	ENST00000359863.4	+	12	1203	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	TRRAP_ENST00000355540.3_Silent_p.L332L|TRRAP_ENST00000446306.3_Silent_p.L332L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	332					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGGAGCTTCTGATTGCTGC	0.488000													150	134					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69096520	69096520	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:69096520C>T	ENST00000543976.1	-	2	1582	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D446N|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	446					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGCAAACATCTTCCTTCTCA	0.373000													89	151					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113323	117113323	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:117113323T>G	ENST00000310357.3	-	6	2784	c.2763A>C	c.(2761-2763)aaA>aaC	p.K921N	GPRC6A_ENST00000530250.1_Missense_Mutation_p.K746N|GPRC6A_ENST00000368549.3_Missense_Mutation_p.K850N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	921					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTGACATTCTTTTTCGAGGCA	0.388000													45	173					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567158	223567158	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:223567158G>A	ENST00000366875.3	+	1	444	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	114										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGAGACAGGAACCAAGCCC	0.726000													5	4					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024798	2024798	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:2024798C>T	ENST00000568546.1	+	6	542	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	138					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCTGGGACATCGTGCGGCACT	0.667000													40	43					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3116410	3116410	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:3116410G>A	ENST00000400569.3	-	21	3555	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	MYOM1_ENST00000261606.7_Silent_p.F978F|MYOM1_ENST00000356443.4_Silent_p.F1074F			P52179	MYOM1_HUMAN	myomesin 1	1074	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAAGTCCACGAAGTAACCAG	0.547000													10	25					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33746014	33746014	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:33746014C>T	ENST00000539719.1	+	5	809	c.639C>T	c.(637-639)ccC>ccT	p.P213P	ZNF362_ENST00000373428.5_Silent_p.P213P	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCCCTATCCCATCCTGGCCT	0.677000													6	17					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	C	rs121913377		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:140453136A>C	ENST00000288602.6	-	15	1859	c.1799T>G	c.(1798-1800)gTg>gGg	p.V600G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				102	172					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65233411	65233411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:65233411C>T	ENST00000542895.1	-	32	6474	c.6378G>A	c.(6376-6378)tgG>tgA	p.W2126*	SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Nonsense_Mutation_p.W2126*|SPTB_ENST00000389722.3_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2126					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGTGACTCCCAGGAACTAG	0.642000													101	147					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000													18	81					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684183	41684183	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:41684183G>A	ENST00000400454.1	-	9	2364	c.1887C>T	c.(1885-1887)acC>acT	p.T629T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	629	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTCTGCCAGGTGATCGTGA	0.532000													22	40					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794585	55794585	+	Silent	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:55794585C>A	ENST00000379665.2	+	1	372	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CAACCATTTCCTATAATGCTT	0.353000													58	107					1.44317e-28	1.50197e-28	1	1	0
SCG3	29106	broad.mit.edu	37	15	52005530	52005530	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:52005530G>A	ENST00000220478.3	+	11	1611	c.1207_splice	c.e11-1	p.G403_splice	RP11-313P18.1_ENST00000557891.1_RNA|SCG3_ENST00000542355.2_Splice_Site_p.G171_splice	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	403					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CCTCTTCCAGGAAAAACAGAA	0.348000													44	46					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771437	143771437	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:143771437G>A	ENST00000408898.2	+	1	163	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTGGGGAACGGGACAATCCTG	0.547000													89	124					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712823	1712823	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:1712823C>T	ENST00000397412.3	+	13	2756	c.2657C>T	c.(2656-2658)cCa>cTa	p.P886L	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P883L|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P886L|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P264L			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	886						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTGCGGAAGCCACTGGTGGTC	0.597000													14	32					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827432	72827432	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:72827432G>A	ENST00000268489.5	-	9	9821	c.9149C>T	c.(9148-9150)tCc>tTc	p.S3050F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2136F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3050					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTAACTTTGGAGATATGCTG	0.488000													51	133					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290507	132290507	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:132290507C>T	ENST00000295171.6	+	6	1085	c.947C>T	c.(946-948)cCc>cTc	p.P316L	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P250L	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTAGCTTTCCCAGGTGAGTG	0.647000													32	85					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060437	111060437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:111060437G>A	ENST00000369771.2	-	1	1360	c.973C>T	c.(973-975)Cag>Tag	p.Q325*		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	325						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCTGTCTCCTGGACTAGCTCT	0.532000													82	154					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83451626	83451626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:83451626C>T	ENST00000334574.8	-	4	1068	c.887G>A	c.(886-888)gGa>gAa	p.G296E	FSD2_ENST00000541889.1_Missense_Mutation_p.G296E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	296										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TAGGTTTTCTCCACAGCTGAC	0.388000													131	276					0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259790	71259790	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:71259790G>A	ENST00000528743.2	+	1	325	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	29					epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTGGCTGCAGGGGCTGTGGCC	0.647000													34	181					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15788051	15788051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:15788051C>T	ENST00000396355.1	+	8	1559	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	NDE1_ENST00000396354.1_Missense_Mutation_p.L245F|NDE1_ENST00000342673.5_Missense_Mutation_p.L245F|NDE1_ENST00000396353.2_Missense_Mutation_p.L245F	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	245	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGGGACCCCCCTCACACCTGC	0.572000													8	34					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397238	51397238	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:51397238G>A	ENST00000327536.5	-	1	235	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	46										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAAGATAAGGGGATGAGTCTT	0.532000													83	54					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128423	30128423	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:30128423G>A	ENST00000449742.2	-	1	288	c.213C>T	c.(211-213)ccC>ccT	p.P71P	TRIM10_ENST00000376704.3_Silent_p.P71P	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	71						cytoplasm	zinc ion binding	p.P71P(1)		ovary(1)	1						GCTGCCAGTTGGGCCGGAAGC	0.602000													106	178					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139189622	139189622	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:139189622T>G	ENST00000395297.1	-	11	1241	c.1071A>C	c.(1069-1071)caA>caC	p.Q357H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	357										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGCAAGTTTTTGGTGCTCCA	0.418000										HNSCC(54;0.14)			8	46					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271556	59271556	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:59271556G>A	ENST00000313253.1	+	1	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G170R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCCTTTCTGTGGACCCAATGT	0.512000													125	179					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46708195	46708195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:46708195C>T	ENST00000454366.1	+	5	1132	c.920C>T	c.(919-921)cCa>cTa	p.P307L		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	288					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATCCCTGTTCCAAACAAGGTG	0.582000													20	29					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917685	4917685	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:4917685G>A	ENST00000399583.3	-	2	273	c.86C>T	c.(85-87)tCc>tTc	p.S29F	RADIL_ENST00000536091.1_Missense_Mutation_p.S29F	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	29					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGCGTCCGGGACAGCATGCT	0.627000													9	15					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630862	12630862	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:12630862C>T	ENST00000228862.2	-	7	1534	c.903G>A	c.(901-903)caG>caA	p.Q301Q	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	301					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGCTCCAGTCTGGTTCTTAA	0.468000													74	119					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788241	26788241	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:26788241A>T	ENST00000381588.4	-	5	2530	c.1778T>A	c.(1777-1779)tTa>tAa	p.L593*	RNF6_ENST00000399762.2_Nonsense_Mutation_p.L237*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.L593*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.L593*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	593					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCATTTAGTAAAAAAAAGTG	0.403000													97	89					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327203	150327203	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150327203G>A	ENST00000328902.5	-	2	244	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	GIMAP6_ENST00000493969.1_Missense_Mutation_p.P10S	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	10							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTCCTGGGGAATTTGTTCA	0.428000													21	323					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55525941	55525941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:55525941G>A	ENST00000310373.3	-	8	1399	c.1372C>T	c.(1372-1374)Cca>Tca	p.P458S	CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	76					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CTGAGAGCTGGGAACCTTAGA	0.527000													21	71					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684327	74684327	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:74684327G>A	ENST00000334011.5	+	7	1510	c.1292G>A	c.(1291-1293)aGc>aAc	p.S431N		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	431	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGCTTGGAAAGCTTGGTGGAG	0.562000													39	22					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614532	247614532	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:247614532G>A	ENST00000318749.6	-	1	776	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I251I(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGGGAGACGATCATCAGGT	0.512000													56	104					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128437	103128437	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:103128437C>T	ENST00000375735.2	+	69	10706	c.10562C>T	c.(10561-10563)gCt>gTt	p.A3521V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3528V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3521					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTAGTTTGGCTGCTTTTCTC	0.428000													13	18					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107451	31107451	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31107451G>A	ENST00000259881.9	+	6	490	c.201G>A	c.(199-201)aaG>aaA	p.K67K	PSORS1C1_ENST00000547221.1_Silent_p.K19K|PSORS1C1_ENST00000481450.2_Silent_p.K4K	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	67										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGATATCCAAGGAATTCCATC	0.552000													15	33					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963502	148963502	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:148963502C>T	ENST00000434415.1	+	2	264	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	34					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GAGAAGAACTCGTACCTCTAC	0.567000													22	25					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119229727	119229727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:119229727G>A	ENST00000296498.3	-	8	1777	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	499						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTCTGACAGGAAAACCTAAG	0.383000													67	60					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368758	20368758	+	RNA	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:20368758C>T	ENST00000593655.1	-	0	199																											gcagccccttcctcaaggact	0.453000													2	6					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151475094	151475094	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:151475094T>G	ENST00000356517.3	+	5	1027	c.918T>G	c.(916-918)agT>agG	p.S306R	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	306						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAGGACTTAGTTATTCATTGC	0.368000													49	242					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184692900	184692900	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:184692900C>G	ENST00000318130.8	-	8	1104	c.838G>C	c.(838-840)Gat>Cat	p.D280H	EDEM3_ENST00000367512.3_Missense_Mutation_p.D237H	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	280					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTACCCAATCTCCAGTATGA	0.328000													33	164					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3664331	3664331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:3664331C>T	ENST00000263087.4	-	6	672	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	192	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		tcctcgtcttcctcctcctcc	0.582000													72	42					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422059	53422059	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:53422059G>A	ENST00000377942.3	-	1	716	c.513C>T	c.(511-513)acC>acT	p.T171T	PCDH8_ENST00000338862.4_Silent_p.T171T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	171	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCAGGCGCACGGTCTGCAGCC	0.716000													3	9					0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847525	131847525	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:131847525C>T	ENST00000372546.4	+	4	334	c.302C>T	c.(301-303)tCc>tTc	p.S101F	DOLPP1_ENST00000540102.1_Missense_Mutation_p.S3F|DOLPP1_ENST00000406974.3_Missense_Mutation_p.S101F	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	101					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GGGATGCCCTCCAGCCATTCC	0.572000													29	121					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:86373294C>T	ENST00000604798.1	-	8	2414	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	MGAT4C_ENST00000393205.2_Missense_Mutation_p.D433N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D404N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D404N|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D404N|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D404N			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	404					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCAAAATATCATTTTGCCGA	0.328000													35	75					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203817287	203817287	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:203817287C>T	ENST00000320443.8	+	5	1355	c.312C>T	c.(310-312)atC>atT	p.I104I	WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545262.1_Silent_p.I28I|CARF_ENST00000456821.2_Silent_p.I92I|CARF_ENST00000402905.2_Silent_p.I104I|CARF_ENST00000434998.1_Silent_p.I2I|CARF_ENST00000444724.1_Silent_p.I104I|CARF_ENST00000438828.2_Silent_p.I104I|CARF_ENST00000414439.1_Silent_p.I2I|CARF_ENST00000428585.1_Silent_p.I28I|CARF_ENST00000545253.1_Silent_p.I16I					calcium responsive transcription factor																		CCAAGATGATCGTTGCCAGCC	0.358000													58	49					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956685	143956685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:143956685C>T	ENST00000292427.4	-	7	1197	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	CYP11B1_ENST00000517471.1_Missense_Mutation_p.D389N|CYP11B1_ENST00000377675.3_Missense_Mutation_p.D460N	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	389					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGCACCAAGTCTGAGCTCGCC	0.612000									Familial Hyperaldosteronism type I				7	26					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467306	133467306	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:133467306G>A	ENST00000402696.3	+	2	579	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	32	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGCAGTGTCGGAGCATGAGGC	0.557000													15	64					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26949237	26949237	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:26949237T>G	ENST00000539517.2	-	3	710	c.393A>C	c.(391-393)gaA>gaC	p.E131D	NOVA1_ENST00000574031.1_Missense_Mutation_p.E131D|NOVA1_ENST00000465357.2_Missense_Mutation_p.E131D|NOVA1_ENST00000344429.5_Missense_Mutation_p.E131D|NOVA1_ENST00000267422.7_Missense_Mutation_p.E9D|NOVA1_ENST00000547619.1_Missense_Mutation_p.E131D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	134					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.E131E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGCTGACTGGTTCTGTCTTGG	0.433000													24	196					0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34533114	34533114	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:34533114C>T	ENST00000312319.2	-	1	232	c.3G>A	c.(1-3)atG>atA	p.M1I	ELF5_ENST00000429939.2_Intron|ELF5_ENST00000532417.1_Intron|ELF5_ENST00000528709.1_5'UTR|ELF5_ENST00000257832.2_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	1					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GCAGAGATGGCATGGAAGCTG	0.537000													17	46					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1083051	1083051	+	Silent	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:1083051G>T	ENST00000313093.2	+	20	2961	c.2730G>T	c.(2728-2730)ctG>ctT	p.L910L	HMHA1_ENST00000543365.1_Silent_p.L793L|HMHA1_ENST00000590577.1_Silent_p.L545L|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590214.1_Silent_p.L937L|HMHA1_ENST00000539243.2_Silent_p.L926L|HMHA1_ENST00000536472.1_Silent_p.L778L|HMHA1_ENST00000586866.1_Silent_p.L914L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	910	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACCTGCTGCGTCACCTAC	0.726000													2	5					1	1	1	1	0
PXDN	7837	broad.mit.edu	37	2	1652184	1652184	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:1652184C>T	ENST00000252804.4	-	17	3418	c.3368G>A	c.(3367-3369)gGg>gAg	p.G1123E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1123					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCCGCCACCCCGAACAGCCC	0.617000													8	60					0	0	1	0	0
LOC643711	643711	broad.mit.edu	37	12	98127082	98127082	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:98127082G>A	ENST00000550548.1	-	0	176					NR_077240.1																						AGGCCTTACAGGGTTGCAGCA	0.577000													2	3					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910346	13910346	+	Missense_Mutation	SNP	C	C	T	rs113350533	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:13910346C>T	ENST00000294489.6	+	1	387	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	PDPN_ENST00000376057.4_Missense_Mutation_p.R16W			Q86YL7	PDPN_HUMAN	podoplanin	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GTTTGCTGTCCGGCTGCCTAG	0.687000													4	76					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89070876	89070876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:89070876G>A	ENST00000564406.1	-	4	1418	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	DET1_ENST00000444300.1_Missense_Mutation_p.P420S|DET1_ENST00000268148.8_Missense_Mutation_p.P409S	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	409						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCTGAGCAGGGAAACTGAACT	0.438000													22	46					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264265	67264265	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:67264265C>T	ENST00000258201.4	-	19	3250	c.3003G>A	c.(3001-3003)caG>caA	p.Q1001Q	FHOD1_ENST00000567687.1_Silent_p.Q580Q	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1001	FH2.|Poly-Gln.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGTATGTGGCCTGCTTCTGCT	0.587000													23	53					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121429346	121429346	+	Missense_Mutation	SNP	C	C	T	rs148966249		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:121429346C>T	ENST00000260197.7	+	20	2839	c.2710C>T	c.(2710-2712)Cgg>Tgg	p.R904W		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	904					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGGATTTATCGGAGCAATAT	0.507000													84	74					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518128	108518128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:108518128G>A	ENST00000375915.2	-	1	955	c.817C>T	c.(817-819)Cac>Tac	p.H273Y		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	273						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGAGCATGGTGGTCATAGTCC	0.507000													58	44					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626047	102626047	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:102626047C>T	ENST00000332549.3	+	3	320	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	IL1R2_ENST00000393414.2_Missense_Mutation_p.R31C|IL1R2_ENST00000441002.1_Missense_Mutation_p.R31C	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	31	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTGCCGGTTTCGTGGGAGGCA	0.612000													70	235					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969463	240969463	+	Silent	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:240969463G>T	ENST00000366565.1	-	15	1627	c.1246C>A	c.(1246-1248)Cga>Aga	p.R416R	RGS7_ENST00000401882.1_Silent_p.R363R|RGS7_ENST00000366563.1_Silent_p.R416R|RGS7_ENST00000407727.1_Silent_p.R416R|RGS7_ENST00000348120.2_Silent_p.R363R|RGS7_ENST00000331110.7_Silent_p.R390R|RGS7_ENST00000366562.4_Silent_p.R416R|RGS7_ENST00000366564.1_Silent_p.R416R|RGS7_ENST00000446183.2_Silent_p.R332R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	416	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATGTGTATCGTCCAGGTTCC	0.458000													47	99					2.84144e-21	2.93727e-21	1	1	0
PIH1D3	139212	broad.mit.edu	37	X	106462146	106462146	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:106462146G>A	ENST00000535523.1	+	5	616	c.279G>A	c.(277-279)gaG>gaA	p.E93E	PIH1D3_ENST00000336387.4_Silent_p.E93E|PIH1D3_ENST00000372453.3_Silent_p.E93E	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		ATTCAGAAGAGATTCCAGAAG	0.403000													24	10					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691548	31691548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31691548G>A	ENST00000375809.3	+	2	205	c.194G>A	c.(193-195)tGg>tAg	p.W65*	C6orf25_ENST00000375805.2_Nonsense_Mutation_p.W65*|C6orf25_ENST00000375810.4_Nonsense_Mutation_p.W65*|C6orf25_ENST00000480039.1_Nonsense_Mutation_p.W65*	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	65						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CCGATCCTGTGGGCCTCTTCG	0.672000													41	71					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449594	85449594	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:85449594G>A	ENST00000393217.2	+	8	1084	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	341	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		gattagaggaggaacaaagga	0.328000													10	24					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139299046	139299046	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:139299046G>A	ENST00000406875.3	-	8	2070	c.1976C>T	c.(1975-1977)cCc>cTc	p.P659L	HIPK2_ENST00000428878.2_Missense_Mutation_p.P632L|HIPK2_ENST00000342645.6_Missense_Mutation_p.P659L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	659	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAGCCGGGGGGACACACGAT	0.612000													11	27					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664832	124664832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:124664832G>A	ENST00000325995.7	-	1	358	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	112										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTGTAGCATGGAGGCGGCCTC	0.577000													5	34					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71928964	71928964	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:71928964C>T	ENST00000266674.5	+	4	737	c.426C>T	c.(424-426)tcC>tcT	p.S142S	LGR5_ENST00000536515.1_Silent_p.S142S|LGR5_ENST00000540815.2_Silent_p.S142S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	142						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCCTTCAATCCCTGTAAGTAT	0.353000													26	103					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40778281	40778281	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:40778281C>T	ENST00000372748.3	-	6	400	c.303_splice	c.e6-1	p.G102_splice		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	102	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGGGCTGGCCCTGCAGAAGC	0.632000													9	33					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393000													90	118					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112319689	112319689	+	Silent	SNP	C	C	T	rs148478583		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:112319689C>T	ENST00000369697.1	-	5	1737	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	KCND3_ENST00000315987.2_Silent_p.T575T|KCND3_ENST00000302127.4_Silent_p.T556T			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	575						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGATGTGGATCGTGCTGAGCT	0.567000													32	50					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138646971	138646971	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:138646971C>T	ENST00000298480.5	+	6	570	c.496C>T	c.(496-498)Cct>Tct	p.P166S	KCNT1_ENST00000488444.2_Missense_Mutation_p.P147S|KCNT1_ENST00000487664.1_Missense_Mutation_p.P118S|KCNT1_ENST00000486577.2_Missense_Mutation_p.P127S|KCNT1_ENST00000371757.2_Missense_Mutation_p.P166S|KCNT1_ENST00000491806.2_Missense_Mutation_p.P133S|KCNT1_ENST00000490355.2_Missense_Mutation_p.P147S|KCNT1_ENST00000263604.3_Missense_Mutation_p.P147S			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	166						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCCCAGGGCTCCTATTCTGTG	0.617000													25	15					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139325	58139325	+	Silent	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:58139325G>T	ENST00000295956.4	+	39	6756	c.6591G>T	c.(6589-6591)cgG>cgT	p.R2197R	FLNB_ENST00000358537.3_Silent_p.R2173R|FLNB_ENST00000493452.1_Silent_p.R2004R|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Silent_p.R2228R|FLNB_ENST00000348383.5_Silent_p.R2156R|FLNB_ENST00000429972.2_Silent_p.R2186R|FLNB_ENST00000419752.2_Silent_p.R2017R	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2197	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACAAGGTGCGGGCAGGAGGCC	0.632000													12	36					3.07112e-06	3.11173e-06	1	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20493760	20493760	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:20493760A>T	ENST00000202677.6	-	32	4395	c.4253T>A	c.(4252-4254)tTt>tAt	p.F1418Y		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1418					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GAACACCTCAAAGGACAGCTC	0.552000													19	43					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83332714	83332714	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:83332714C>T	ENST00000261722.3	-	19	2425	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	AP3B2_ENST00000535359.1_Missense_Mutation_p.E759K|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.E708K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	740	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTACCATCCTCCTCACTCTGT	0.522000													15	27					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56230836	56230836	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:56230836G>T	ENST00000394182.1	-	4	652	c.653C>A	c.(652-654)aCc>aAc	p.T218N	MMP19_ENST00000548629.1_Missense_Mutation_p.T481N|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.T504N			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	504					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TTCAAACGTGGTTTCTGTGGC	0.537000													105	185					6.13486e-44	6.40659e-44	1	1	0
CFAP221	200373	broad.mit.edu	37	2	120362534	120362534	+	Missense_Mutation	SNP	G	G	A	rs141477875		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:120362534G>A	ENST00000602047.1	+	11	1249	c.137G>A	c.(136-138)gGa>gAa	p.G46E	PCDP1_ENST00000413369.3_Missense_Mutation_p.G332E|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		332						cilium	calmodulin binding					Colorectal(110;0.196)					CAAGAACCAGGAAAATTGAAG	0.383000													68	189					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132320179	132320179	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:132320179A>T	ENST00000249887.2	+	2	1034	c.938A>T	c.(937-939)tAc>tTc	p.Y313F	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		TTCAAAAACTACGTTATGAAA	0.458000													41	117					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172327	47172327	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:47172327C>T	ENST00000447411.1	-	10	1156	c.950G>A	c.(949-951)aGt>aAt	p.S317N	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S317N	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	317					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTGTCATCACTATGAGCTTC	0.448000													37	85					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483117	158483117	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:158483117G>A	ENST00000355585.4	+	8	1123	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	SYNJ2_ENST00000449859.2_Missense_Mutation_p.E278K|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E350K|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E350K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	350	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAGAAATTGGAGACCCTCTT	0.527000													54	189					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179843	124179843	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:124179843A>T	ENST00000357821.2	-	1	890	c.820T>A	c.(820-822)Tcc>Acc	p.S274T		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AACACAGAGGACACCTTCTCC	0.463000													7	97					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47298378	47298378	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:47298378C>T	ENST00000342922.4	+	5	1416	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	MADD_ENST00000402799.1_Silent_p.I353I|MADD_ENST00000402192.2_Silent_p.I353I|MADD_ENST00000407859.3_Silent_p.I353I|MADD_ENST00000406482.1_Silent_p.I353I|MADD_ENST00000395336.3_Silent_p.I353I|MADD_ENST00000395344.3_Silent_p.I353I|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000349238.3_Silent_p.I353I|MADD_ENST00000311027.5_Silent_p.I353I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	353	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTCCTGTCATCCCGCTGCTAC	0.537000													47	66					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492804	62492804	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:62492804A>G	ENST00000539111.2	-	1	350	c.283T>C	c.(283-285)Tgc>Cgc	p.C95R		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	95					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCGGGGTGGCACCCACTCAGA	0.587000													44	59					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122497	153122497	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:153122497C>T	ENST00000368748.4	-	2	128	c.90G>A	c.(88-90)ccG>ccA	p.P30P		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	30	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.607000													46	89					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688605	3688605	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:3688605G>A	ENST00000250699.2	-	4	823	c.752C>T	c.(751-753)tCg>tTg	p.S251L	CHRNA10_ENST00000534359.1_Missense_Mutation_p.R69C	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	251					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCAAGCAGCGAGATGAGCAC	0.692000													6	13					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475351	50475351	+	RNA	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:50475351C>T	ENST00000602139.1	+	0	1297									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TCAGCTTCTCCGTGCACTGTG	0.672000													21	50					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751598	57751598	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:57751598C>T	ENST00000274289.3	-	11	1693	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	465					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATGGTACTGTCTTCAAGGCCT	0.428000													52	34					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927896	31927896	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31927896G>A	ENST00000375394.2	+	3	349	c.236_splice	c.e3+1	p.R79_splice	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	79						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTCAGCCCGGTGAGGAGTC	0.547000													35	57					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106997	234106997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:234106997C>T	ENST00000359570.5	+	27	2914	c.2914C>T	c.(2914-2916)Ctc>Ttc	p.L972F	INPP5D_ENST00000455936.2_Missense_Mutation_p.L736F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L736F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	984	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAACCGGGGTCTCCCTCCCAG	0.597000													14	17					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27423405	27423405	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:27423405T>G	ENST00000358918.3	-	5	772	c.573A>C	c.(571-573)gaA>gaC	p.E191D	APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_Missense_Mutation_p.E191D|APP_ENST00000357903.3_Missense_Mutation_p.E191D|APP_ENST00000354192.3_Missense_Mutation_p.E135D|APP_ENST00000348990.5_Missense_Mutation_p.E191D|APP_ENST00000448388.2_Missense_Mutation_p.E156D|APP_ENST00000346798.3_Missense_Mutation_p.E191D|APP_ENST00000440126.3_Missense_Mutation_p.E186D|APP_ENST00000439274.2_Missense_Mutation_p.E135D	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	191					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGTCACTTTCTTCAGCCAGTG	0.542000													12	56					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053853	11053853	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:11053853C>T	ENST00000295082.1	+	1	1791	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	434						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAACTCAACTCCAGCAGCGGG	0.652000													40	42					0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33881075	33881075	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:33881075G>A	ENST00000257818.2	-	6	1340	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	LMO2_ENST00000395833.3_Missense_Mutation_p.R102C	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	102					multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCATAGGCACGAATCCGCTTG	0.478000			T	TRD@	T-ALL								33	77					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44435929	44435929	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:44435929G>A	ENST00000255108.3	+	1	254	c.82G>A	c.(82-84)Gac>Aac	p.D28N	DPH2_ENST00000396758.2_Missense_Mutation_p.D28N|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	28					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TCCTCTTCCGGACCTGGACGG	0.627000													36	79					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18151073	18151073	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:18151073C>T	ENST00000327031.4	-	20	2610	c.2385G>A	c.(2383-2385)ctG>ctA	p.L795L	FLII_ENST00000379450.4_Silent_p.L709L|FLII_ENST00000579294.1_Silent_p.L784L|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.L740L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	795	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CAGCGCGCACCAGGCGCGGGG	0.697000													21	22					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34901164	34901164	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:34901164G>A	ENST00000381831.3	-	8	1066	c.803C>T	c.(802-804)cCa>cTa	p.P268L	GART_ENST00000381815.4_Missense_Mutation_p.P268L|GART_ENST00000381839.3_Missense_Mutation_p.P268L|GART_ENST00000361093.5_Missense_Mutation_p.P268L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	268	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACCTGTATATGGAGTACCCTC	0.368000													21	54					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363392	21363392	+	RNA	SNP	G	G	A	rs28522842	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:21363392G>A	ENST00000452284.1	+	0	1059				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GGGCCCCATCGAATCACAGGG	0.562000													5	103					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877715	82877715	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:82877715G>T	ENST00000298281.4	+	5	2228	c.1776G>T	c.(1774-1776)aaG>aaT	p.K592N		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	592					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGTTCCAAGTCTGCCAAAA	0.363000													35	148					9.80977e-26	1.01922e-25	1	1	0
TBC1D20	128637	broad.mit.edu	37	20	428638	428638	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:428638T>C	ENST00000354200.4	-	2	298	c.151A>G	c.(151-153)Aga>Gga	p.R51G		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	51					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GCCATGCGTCTAAGGGCAGCC	0.488000													38	48					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113384616	113384616	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:113384616C>T	ENST00000228928.7	+	4	884	c.705C>T	c.(703-705)ttC>ttT	p.F235F	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	235	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGACCATCTTCGCCTGGGAGC	0.587000													10	13					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894524	151894524	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:151894524C>T	ENST00000367290.5	+	6	1079	c.990C>T	c.(988-990)atC>atT	p.I330I	CCDC170_ENST00000239374.7_Silent_p.I330I			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	330																	GGGAGAAAATCGCAGCCCTCC	0.498000													33	69					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33747153	33747153	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:33747153C>G	ENST00000403687.3	+	7	1240	c.500C>G	c.(499-501)tCt>tGt	p.S167C	RASGRP3_ENST00000407811.1_Missense_Mutation_p.S167C|RASGRP3_ENST00000402538.3_Missense_Mutation_p.S167C	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	167	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGCATAAATCTTTTAGAAGG	0.418000													108	158					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43749740	43749740	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:43749740A>G	ENST00000372067.3	+	6	1504	c.1010A>G	c.(1009-1011)gAt>gGt	p.D337G	VEGFA_ENST00000518689.1_Missense_Mutation_p.D175G|VEGFA_ENST00000523125.1_Missense_Mutation_p.D157G|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.D181G|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000417285.2_Missense_Mutation_p.D337G|VEGFA_ENST00000413642.3_Missense_Mutation_p.D355G|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000372055.4_Missense_Mutation_p.D378G|VEGFA_ENST00000523873.1_Missense_Mutation_p.D198G|VEGFA_ENST00000425836.2_Missense_Mutation_p.D361G|VEGFA_ENST00000523950.1_Missense_Mutation_p.D157G|VEGFA_ENST00000518824.1_Missense_Mutation_p.D157G|VEGFA_ENST00000482630.2_Missense_Mutation_p.D337G|VEGFA_ENST00000230480.6_Missense_Mutation_p.D129G|VEGFA_ENST00000324450.6_Intron	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	198					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TTTGTACAAGATCCGCAGACG	0.493000													33	50					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9520219	9520219	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:9520219C>T	ENST00000378429.3	-	11	2596	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PAK7_ENST00000353224.5_Missense_Mutation_p.E684K|PAK7_ENST00000378423.1_Missense_Mutation_p.E684K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	684	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGGCTCCCTCACCAAC	0.507000													79	179					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281537	4281537	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:4281537C>A	ENST00000404826.2	+	43	6382	c.6243C>A	c.(6241-6243)aaC>aaA	p.N2081K	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.N2061K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2081					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAAGAAGAACGGGACCAGGT	0.642000													34	44					1.04352e-10	1.06435e-10	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685265	248685265	+	Silent	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:248685265G>T	ENST00000343414.4	+	1	350	c.318G>T	c.(316-318)ggG>ggT	p.G106G		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCCATGGGGTTGGGCTCGT	0.542000													38	116					1.96642e-18	2.02932e-18	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10975828	10975828	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:10975828G>A	ENST00000254488.2	+	12	1617	c.1551G>A	c.(1549-1551)atG>atA	p.M517I		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	517					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGTGCTGGATGATCATGACCC	0.557000													52	79					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41021022	41021022	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:41021022G>A	ENST00000267868.3	+	7	912	c.644_splice	c.e7+1	p.R215_splice	RAD51_ENST00000382643.3_Splice_Site_p.R216_splice|RAD51_ENST00000423169.2_Splice_Site_p.R215_splice|RAD51_ENST00000532743.1_Splice_Site_p.R216_splice|RAD51_ENST00000557850.1_Splice_Site_p.R118_splice	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	215	Interaction with PALB2.				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GTAGAATCTAGGTATGTGTTC	0.413000								Homologous recombination					86	50					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86253854	86253854	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:86253854G>T	ENST00000523953.1	-	3	1057	c.11C>A	c.(10-12)cCa>cAa	p.P4Q	CA1_ENST00000523022.1_Missense_Mutation_p.P4Q|CA1_ENST00000542576.1_Missense_Mutation_p.P4Q|CA1_ENST00000432364.2_Missense_Mutation_p.P4Q|CA1_ENST00000522389.1_5'UTR|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Missense_Mutation_p.P4Q|CA1_ENST00000256119.5_Missense_Mutation_p.P4Q			P00915	CAH1_HUMAN	carbonic anhydrase I	4					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCAGTCTGGACTTGCCAT	0.338000													18	64					6.94344e-10	7.07032e-10	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119488215	119488215	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:119488215G>C	ENST00000313400.4	-	16	2741	c.2641C>G	c.(2641-2643)Ctc>Gtc	p.L881V	ASTN2_ENST00000373996.3_Missense_Mutation_p.L877V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.L830V			O75129	ASTN2_HUMAN	astrotactin 2	881						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGATCTTGAGAACATTAGTG	0.547000													18	64					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585287	82585287	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:82585287C>T	ENST00000423517.2	-	5	5319	c.4982G>A	c.(4981-4983)gGa>gAa	p.G1661E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1661E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1592					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGCCCTCCTCCTCCAGTAAC	0.368000													104	162					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800332	48800332	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:48800332C>T	ENST00000315396.7	-	14	2596	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	638	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGCCTCCGCTCGAATCAGACG	0.672000													55	63					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879506	27879506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:27879506C>T	ENST00000303324.2	-	1	668	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGAATAGTTCAGCCTCATTT	0.438000													15	160					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51470438	51470438	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:51470438G>A	ENST00000376851.3	-	3	623	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	KLK6_ENST00000594641.1_Missense_Mutation_p.H62Y|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000376853.4_Missense_Mutation_p.H62Y|KLK6_ENST00000310157.2_Missense_Mutation_p.H62Y|KLK6_ENST00000391808.1_5'UTR	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	62	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTTTTGCAGTGGGCAGCTGTG	0.542000													35	48					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486475	128486475	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:128486475G>A	ENST00000325888.8	+	23	4346	c.4085G>A	c.(4084-4086)gGt>gAt	p.G1362D	FLNC_ENST00000346177.6_Missense_Mutation_p.G1362D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1362					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCTGGAGGGTGGCTTGGTC	0.627000													6	157					0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809599	809599	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:809599G>A	ENST00000446136.1	-	0	1094					NR_027055.1																						ACGGGCGAGGGCATGGAAGAG	0.527000													79	122					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961316	1961316	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:1961316C>T	ENST00000217305.2	-	4	643	c.418G>A	c.(418-420)Gga>Aga	p.G140R	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.G140R|PDYN_ENST00000539905.1_Missense_Mutation_p.G140R	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	140					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GACTCTGCTCCCTCCCTAAAC	0.547000													44	99					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222231	131222231	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:131222231G>C	ENST00000337057.3	-	7	1200	c.1019C>G	c.(1018-1020)aCc>aGc	p.T340S	EPB41L2_ENST00000527411.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000445890.2_Missense_Mutation_p.T340S|EPB41L2_ENST00000525193.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.T340S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000530481.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000529208.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000525271.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.T340S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	340	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGCCTGCAGGGTGTAGGATCC	0.547000													28	140					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873662	189873662	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:189873662C>T	ENST00000304636.3	+	48	3708	c.3538C>T	c.(3538-3540)Cac>Tac	p.H1180Y	COL3A1_ENST00000317840.5_Missense_Mutation_p.H877Y	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1180	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTCCCCAGGCCACCCAGGGCA	0.532000													92	89					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876392	35876392	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:35876392A>C	ENST00000303115.3	+	8	1313	c.1184A>C	c.(1183-1185)aAg>aCg	p.K395T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	395					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.K395M(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAGTGGCAAGAATGGGCCT	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						5	43					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401079	55401079	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:55401079C>T	ENST00000391723.3	+	4	604	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.L142L|FCAR_ENST00000391724.3_Silent_p.L204L|FCAR_ENST00000391725.3_Silent_p.L216L|FCAR_ENST00000391726.3_Silent_p.L130L|FCAR_ENST00000355524.3_Silent_p.L238L|FCAR_ENST00000353758.4_Silent_p.L129L|FCAR_ENST00000359272.4_Silent_p.L226L	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.L238L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACTGGTCCTCGTGGCTCTCT	0.542000													194	252					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156914196	156914196	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:156914196G>A	ENST00000368194.3	-	31	4060	c.3021C>T	c.(3019-3021)atC>atT	p.I1007I	ARHGEF11_ENST00000361409.2_Silent_p.I967I|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.I383I	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	967	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCCCTCATGGATCATTTTTC	0.488000													13	74					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14101530	14101530	+	RNA	SNP	G	G	A	rs147795614	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:14101530G>A	ENST00000310358.7	+	0	1174							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CATTTTATGGGAATTGGTCCG	0.458000													46	43					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6638859	6638859	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:6638859G>A	ENST00000299427.6	-	4	438	c.378C>T	c.(376-378)atC>atT	p.I126I	TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	126					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCTCTCACCGGATGCTCAGCC	0.567000													60	96					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512945	152512945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:152512945C>T	ENST00000427231.2	-	49	6419	c.6217G>A	c.(6217-6219)Ggg>Agg	p.G2073R	NEB_ENST00000172853.10_Missense_Mutation_p.G2073R|NEB_ENST00000604864.1_Missense_Mutation_p.G2073R|NEB_ENST00000397345.3_Missense_Mutation_p.G2073R|NEB_ENST00000603639.1_Missense_Mutation_p.G2073R|NEB_ENST00000409198.1_Missense_Mutation_p.G2073R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCATTTTCCCCTTCCCTTTT	0.368000													115	114					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40269572	40269572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:40269572G>A	ENST00000225916.5	-	10	1524	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	491					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTCCAGGCGGGCTGTCTCA	0.667000													19	20					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152273381	152273381	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:152273381G>A	ENST00000243326.4	+	5	952	c.469G>A	c.(469-471)Gtt>Att	p.V157I	RIF1_ENST00000433166.2_Missense_Mutation_p.V157I|RIF1_ENST00000430328.2_Missense_Mutation_p.V157I|RIF1_ENST00000428287.2_Missense_Mutation_p.V157I|RIF1_ENST00000453091.2_Missense_Mutation_p.V157I|RIF1_ENST00000444746.2_Missense_Mutation_p.V157I			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	157					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCATTCTGCTGTTGTTGATTT	0.313000													31	127					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32480404	32480404	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:32480404G>A	ENST00000548411.1	+	5	1196	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	BICD1_ENST00000281474.5_Missense_Mutation_p.E339K	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	339					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGTAGAGCGGGAAAAGGCCAT	0.507000													64	99					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11450904	11450904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:11450904C>T	ENST00000423059.3	-	19	3979	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1243	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTTTTTATTCCATTTCCACA	0.418000										HNSCC(18;0.044)			23	111					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085822	92085822	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:92085822G>A	ENST00000298047.6	+	1	561	c.544G>A	c.(544-546)Gca>Aca	p.A182T	FAT3_ENST00000409404.2_Missense_Mutation_p.A182T|FAT3_ENST00000525166.1_Missense_Mutation_p.A32T|FAT3_ENST00000541502.1_Missense_Mutation_p.A182T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	182	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGGTGACTGCAACAGACGC	0.408000										TCGA Ovarian(4;0.039)			41	59					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44915951	44915951	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:44915951G>A	ENST00000429094.2	-	18	2511	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	NELL2_ENST00000452445.2_Silent_p.F669F|NELL2_ENST00000551601.1_Silent_p.F621F|NELL2_ENST00000333837.4_Silent_p.F692F|NELL2_ENST00000437801.2_Silent_p.F719F|NELL2_ENST00000549027.1_Silent_p.F668F|NELL2_ENST00000395487.2_Silent_p.F668F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	669	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GACACATAACGAATCCATTCT	0.443000													18	40					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66555725	66555725	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:66555725C>G	ENST00000360962.4	+	5	625	c.618C>G	c.(616-618)ttC>ttG	p.F206L	C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000540737.1_Missense_Mutation_p.F40L|C11orf80_ENST00000525449.2_Missense_Mutation_p.F51L|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_Missense_Mutation_p.F51L|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	51										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TAACACCCTTCCAGATGATTT	0.388000													14	83					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145528591	145528591	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:145528591C>T	ENST00000369304.3	+	5	563	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	ITGA10_ENST00000538811.1_Intron|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	130					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R130C(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)					TCTCTGGTCTCGTGCTTGTGG	0.592000													50	70					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648069	41648069	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:41648069C>T	ENST00000400454.1	-	11	2788	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	771	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGCCCACATCGTTGCTGACC	0.483000													24	58					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532441	92532441	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:92532441C>A	ENST00000298047.6	+	9	6279	c.6262C>A	c.(6262-6264)Cca>Aca	p.P2088T	FAT3_ENST00000409404.2_Missense_Mutation_p.P2088T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1938T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2088	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGGCCTCCCATACTATGC	0.493000										TCGA Ovarian(4;0.039)			15	51					6.72482e-11	6.87053e-11	1	1	0
PTPRN	5798	broad.mit.edu	37	2	220166953	220166953	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:220166953C>T	ENST00000295718.2	-	6	1140	c.900G>A	c.(898-900)ggG>ggA	p.G300G	PTPRN_ENST00000423636.2_Silent_p.G210G|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.G300G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	300					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCTGCTGCTCCCTTGCTCTG	0.617000													22	22					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13565975	13565975	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:13565975G>A	ENST00000360228.5	-	2	344	c.345C>T	c.(343-345)ctC>ctT	p.L115L	CACNA1A_ENST00000573710.2_Silent_p.L115L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	115					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCTCCAGTGCGAGGACGATGC	0.453000													51	180					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370455	17370455	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:17370455G>A	ENST00000252597.3	-	6	1028	c.855C>T	c.(853-855)ccC>ccT	p.P285P	USHBP1_ENST00000431146.2_Silent_p.P221P	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	285							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CAGGACTGAGGGGCTGGTTGG	0.592000													107	123					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431734	89431734	+	RNA	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:89431734G>A	ENST00000532352.1	+	0	2016							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCACAGTGCAGGCAGCTGCAG	0.418000													60	93					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528275	20528275	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:20528275A>C	ENST00000315683.1	+	1	72	c.72A>C	c.(70-72)caA>caC	p.Q24H		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGGAACTTCAAATTTTCTTCT	0.383000													10	310					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759190	55759190	+	Missense_Mutation	SNP	T	T	C	rs141133753	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:55759190T>C	ENST00000343399.3	+	1	296	c.296T>C	c.(295-297)cTa>cCa	p.L99P		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GTGGCTCAGCTATTTTTTTTC	0.438000													82	133					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912519	23912519	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:23912519A>C	ENST00000382298.3	-	10	6084	c.5496T>G	c.(5494-5496)ttT>ttG	p.F1832L	SACS_ENST00000382292.3_Missense_Mutation_p.F1832L|SACS_ENST00000402364.1_Missense_Mutation_p.F1082L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1832					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTCAGGGAAAACTTCAGAG	0.488000													71	70					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120613963	120613963	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:120613963A>C	ENST00000300648.6	-	10	908	c.896T>G	c.(895-897)aTc>aGc	p.I299S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	299					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTTCACGATGTCCATGGC	0.507000													39	97					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20998548	20998548	+	Missense_Mutation	SNP	G	G	A	rs141369367	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:20998548G>A	ENST00000247986.2	-	12	2915	c.2605C>T	c.(2605-2607)Cgc>Tgc	p.R869C	KIF17_ENST00000400463.3_Missense_Mutation_p.R869C|KIF17_ENST00000375044.1_Missense_Mutation_p.R769C|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	869					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAGTCCCTGCGAATCAGGGGC	0.557000													41	50					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140228	203140228	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:203140228G>A	ENST00000255416.4	-	6	951	c.894C>T	c.(892-894)ctC>ctT	p.L298L		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	298	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TGTAGCCCAGGAGCTCTGTGT	0.612000													53	113					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177615	7177615	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:7177615G>A	ENST00000406697.1	+	15	2355	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	C1S_ENST00000360817.5_Missense_Mutation_p.R576K|C1S_ENST00000402681.3_Missense_Mutation_p.R409K|C1S_ENST00000328916.3_Missense_Mutation_p.R576K			P09871	C1S_HUMAN	complement component 1, s subcomponent	576	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ACAGAGAAGAGAGATCGTGCT	0.552000													31	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614209	179614209	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:179614209C>T	ENST00000360870.5	-	46	13140	c.12918G>A	c.(12916-12918)agG>agA	p.R4306R	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	439	Ig-like 23.						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)			GAAAATAGTCCCTTACTGAAT	0.413000													90	81					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5948109	5948109	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:5948109G>A	ENST00000378896.3	+	9	1280	c.903G>A	c.(901-903)caG>caA	p.Q301Q	MCM8_ENST00000378886.2_Silent_p.Q301Q|MCM8_ENST00000265187.4_Silent_p.Q301Q|MCM8_ENST00000378883.1_Silent_p.Q301Q	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	301					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CTGATGATCAGAGAGAAGCAG	0.388000													49	77					0	0	1	0	0
FAM43B	163933	broad.mit.edu	37	1	20879540	20879540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:20879540C>T	ENST00000332947.4	+	1	609	c.74C>T	c.(73-75)cCg>cTg	p.P25L		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	25										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		AGCCTGAGTCCGGGGCTCGCC	0.687000													18	18					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1882108	1882108	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:1882108G>A	ENST00000518288.1	+	27	3457	c.3294_splice	c.e27+1	p.E1098_splice	ARHGEF10_ENST00000398564.1_Splice_Site_p.E1099_splice|ARHGEF10_ENST00000520359.1_Splice_Site_p.E1036_splice|ARHGEF10_ENST00000349830.3_Splice_Site_p.E1074_splice|ARHGEF10_ENST00000262112.6_Splice_Site_p.E1070_splice			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1099					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGCTGTAGAGGTAAGTCACT	0.498000													19	38					0	0	1	0	0
SMPD2	6610	broad.mit.edu	37	6	109764994	109764994	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:109764994G>A	ENST00000258052.3	+	10	1517	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	386					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ATAGGGCCCAGGCTGAGCTCC	0.617000													35	50					0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279504	25279504	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:25279504C>T	ENST00000331161.4	-	4	701	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	ENKUR_ENST00000376363.1_Missense_Mutation_p.R161Q	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	161						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTCCTCGTTTCGCTTACATAT	0.358000													40	40					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417680	9417680	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:9417680C>T	ENST00000378501.2	+	26	2624	c.2609C>T	c.(2608-2610)tCc>tTc	p.S870F	PLCB4_ENST00000278655.4_Missense_Mutation_p.S870F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S882F|PLCB4_ENST00000378493.1_Missense_Mutation_p.S870F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S882F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S870F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	870					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGTGACACTTCCAAAAATGAC	0.473000													18	26					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912095	127912095	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:127912095G>A	ENST00000451402.1	-	8	1106	c.886C>T	c.(886-888)Cct>Tct	p.P296S	PPP6C_ENST00000373546.3_Missense_Mutation_p.P112S|PPP6C_ENST00000415905.1_Missense_Mutation_p.P237S|PPP6C_ENST00000373547.4_Missense_Mutation_p.P259S	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	259					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.P259S(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CAGTAATTAGGAGCAGACCAT	0.388000													56	23					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356090	40356090	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:40356090G>A	ENST00000310169.2	+	5	1132	c.993G>A	c.(991-993)cgG>cgA	p.R331R		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	331					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCGAGGCCCGGCCGGTGCCAC	0.552000													64	211					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290733	50290733	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:50290733G>A	ENST00000338821.5	-	11	1260	c.996C>T	c.(994-996)atC>atT	p.I332I	ATP9A_ENST00000402822.1_Silent_p.I211I|ATP9A_ENST00000311637.5_Silent_p.I196I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	332					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGAAGCGGATGATCTGCAGGT	0.522000													41	92					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180835714	180835714	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:180835714C>T	ENST00000410053.3	-	9	1193	c.894G>A	c.(892-894)aaG>aaA	p.K298K	CWC22_ENST00000295749.6_Silent_p.K298K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	298	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGCCACATTCCTTAAGAAAAC	0.338000													25	66					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976334	20976334	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:20976334C>T	ENST00000261383.3	-	53	8871	c.8872G>A	c.(8872-8874)Gaa>Aaa	p.E2958K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2958	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGCAGATTTCAATGTTTTCC	0.522000													144	160					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109968439	109968439	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:109968439G>A	ENST00000342494.3	+	26	3493	c.2898G>A	c.(2896-2898)ccG>ccA	p.P966P	UBE3B_ENST00000535089.1_Silent_p.P53P|UBE3B_ENST00000434735.2_Silent_p.P966P	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	966	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ACTTCACACCGGATGAGAGAG	0.428000													42	95					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1882109	1882109	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:1882109G>A	ENST00000518288.1	+	27	3457		c.e27+1		ARHGEF10_ENST00000398564.1_Splice_Site|ARHGEF10_ENST00000520359.1_Splice_Site|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000262112.6_Splice_Site			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10						centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGCTGTAGAGGTAAGTCACTT	0.493000													19	40					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573360	44573360	+	Silent	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:44573360A>T	ENST00000289547.4	-	7	2314	c.2259T>A	c.(2257-2259)tcT>tcA	p.S753S	NPC1L1_ENST00000423141.1_Intron|NPC1L1_ENST00000381160.3_Silent_p.S753S|NPC1L1_ENST00000546276.1_Silent_p.S753S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	753	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGATGGCCTCAGAGAGGCTGC	0.647000													15	64					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71928963	71928963	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:71928963C>T	ENST00000266674.5	+	4	736	c.425C>T	c.(424-426)tCc>tTc	p.S142F	LGR5_ENST00000536515.1_Missense_Mutation_p.S142F|LGR5_ENST00000540815.2_Missense_Mutation_p.S142F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	142						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGCCTTCAATCCCTGTAAGTA	0.348000													25	104					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40945727	40945727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:40945727G>A	ENST00000246914.5	+	12	2296	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	759					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGAGGCTGCTGAAGACACCCT	0.572000													29	27					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943624	9943624	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:9943624G>A	ENST00000396573.2	-	6	1626	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	GRIN2A_ENST00000404927.2_Silent_p.F439F|GRIN2A_ENST00000535259.1_Silent_p.F282F|GRIN2A_ENST00000396575.2_Silent_p.F439F|GRIN2A_ENST00000562109.1_Silent_p.F439F|GRIN2A_ENST00000330684.3_Silent_p.F439F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	439					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATTTTGACGAACTTCCGAC	0.502000													24	81					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60938447	60938447	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:60938447G>A	ENST00000321731.3	-	6	493	c.334C>T	c.(334-336)Cat>Tat	p.H112Y		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	112										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATATAATCATGATACATTTCT	0.269000													22	46					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2763042	2763042	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:2763042C>T	ENST00000399655.1	+	33	4381	c.4116C>T	c.(4114-4116)ttC>ttT	p.F1372F	CACNA1C_ENST00000402845.3_Silent_p.F1372F|CACNA1C_ENST00000399621.1_Silent_p.F1372F|CACNA1C_ENST00000399637.1_Silent_p.F1372F|CACNA1C_ENST00000399606.1_Silent_p.F1392F|CACNA1C_ENST00000399601.1_Silent_p.F1372F|CACNA1C_ENST00000344100.3_Silent_p.F1394F|CACNA1C_ENST00000399629.1_Silent_p.F1389F|CACNA1C_ENST00000399641.1_Silent_p.F1372F|CACNA1C_ENST00000399617.1_Silent_p.F1372F|CACNA1C_ENST00000399638.1_Silent_p.F1400F|CACNA1C_ENST00000399595.1_Silent_p.F1361F|CACNA1C_ENST00000335762.5_Silent_p.F1397F|CACNA1C_ENST00000347598.4_Silent_p.F1420F|CACNA1C_ENST00000399597.1_Silent_p.F1372F|CACNA1C_ENST00000399591.1_Silent_p.F1361F|CACNA1C_ENST00000399634.1_Silent_p.F1372F|CACNA1C_ENST00000406454.3_Silent_p.F1372F|CACNA1C_ENST00000399644.1_Silent_p.F1372F|CACNA1C_ENST00000327702.7_Silent_p.F1372F|CACNA1C_ENST00000399603.1_Silent_p.F1372F|CACNA1C_ENST00000399649.1_Silent_p.F1359F	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	1420					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			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)	TGCTGTTCTTCATCTACGCGG	0.632000													27	34					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15815318	15815318	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:15815318C>T	ENST00000338282.6	-	32	4645	c.4539G>A	c.(4537-4539)atG>atA	p.M1513I	MYH11_ENST00000452625.2_Missense_Mutation_p.M1520I|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.M1513I|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.M1513I|MYH11_ENST00000396324.3_Missense_Mutation_p.M1520I	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1513					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGGTCTTCCATTTCGGCTT	0.552000			T	CBFB	AML								18	60					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46324674	46324674	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:46324674G>A	ENST00000245934.7	-	22	3105	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	954					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCACTTCACGGAGTCAATGTT	0.612000													14	70					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64435984	64435984	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:64435984C>T	ENST00000265459.6	-	8	1751	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	NRXN2_ENST00000377559.3_Silent_p.G399G|NRXN2_ENST00000377551.1_Silent_p.G430G|NRXN2_ENST00000409571.1_Silent_p.G423G	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	430	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			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						TGGGGCTGCCCCCAATGTAGA	0.612000													59	86					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635941	156635941	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:156635941C>T	ENST00000422843.3	+	2	332	c.180C>T	c.(178-180)atC>atT	p.I60I	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	60	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCCCGAATCAAATGTGTTG	0.458000			T	SYK	peripheral T-cell lymphoma								37	23					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152485313	152485313	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:152485313C>T	ENST00000367255.5	-	131	24376	c.23775G>A	c.(23773-23775)aaG>aaA	p.K7925K	SYNE1_ENST00000265368.4_Silent_p.K7925K|SYNE1_ENST00000423061.1_Silent_p.K7854K|SYNE1_ENST00000356820.4_Silent_p.K2449K|SYNE1_ENST00000341594.5_Silent_p.K7537K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.K80K|SYNE1_ENST00000539504.1_Silent_p.K80K|SYNE1_ENST00000448038.1_Silent_p.K7854K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7925					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCATTAAGCTTTCTCTGTA	0.478000										HNSCC(10;0.0054)			29	141					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521071	62521071	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:62521071G>A	ENST00000394807.3	-	2	341	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGTCACAAAGGAAACCCTGGG	0.582000													16	22					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606463	48606463	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:48606463G>A	ENST00000323776.5	+	18	2929	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D886N	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	886					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TTCTTTGGAAGACCCTACCCC	0.527000													13	73					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810398	124810398	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:124810398C>T	ENST00000334705.7	+	16	1726	c.1480C>T	c.(1480-1482)Cta>Tta	p.L494L	FAM91A1_ENST00000521166.1_Silent_p.L494L	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	494										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGCAGAGTTCTAAACAAAAA	0.473000													161	180					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695312	247695312	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:247695312G>A	ENST00000366487.3	-	2	863	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCACACAGCGGTAGGAGCATG	0.542000													18	30					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124272418	124272418	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:124272418G>A	ENST00000409039.3	+	10	1331	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	436	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGGAAAAAGGCCTATTTTGA	0.557000													11	20					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32696142	32696142	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:32696142A>G	ENST00000421745.2	+	32	6676	c.6542A>G	c.(6541-6543)tAt>tGt	p.Y2181C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2181					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGCTGGATTATGTGGCAACT	0.418000													4	11					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832403	72832403	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:72832403C>T	ENST00000335464.5	+	10	1230	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.F356F|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	356						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGCGCTTTTTCCTGGGCCTCT	0.617000													61	179					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545436	54545436	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:54545436C>T	ENST00000338372.2	-	6	677	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.E137K|VSTM1_ENST00000366170.2_Missense_Mutation_p.E80K	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	168						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTGGTGGATTCCTCAGATGAT	0.493000													41	136					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604239	111604239	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:111604239G>A	ENST00000431670.2	+	2	1726	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	PHLDB2_ENST00000393923.3_Missense_Mutation_p.E466K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E439K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E439K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E439K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E439K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E439K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	439						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGACTCAGGGAGCAGGAAAT	0.512000													44	82					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38424495	38424495	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:38424495G>A	ENST00000356264.2	-	21	2227	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	AMPH_ENST00000428293.2_Missense_Mutation_p.S629L|AMPH_ENST00000325590.5_Missense_Mutation_p.S629L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	671	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGCCAGTCTGATTCCTTCAC	0.478000													110	123					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20940837	20940837	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:20940837G>A	ENST00000298925.5	+	8	953	c.800G>A	c.(799-801)gGa>gAa	p.G267E	NELL1_ENST00000532434.1_Missense_Mutation_p.G239E|NELL1_ENST00000325319.5_Missense_Mutation_p.G182E|NELL1_ENST00000357134.5_Missense_Mutation_p.G239E			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	239					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGGTGCAAGGAATAATGGAT	0.303000													64	105					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91841272	91841272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:91841272G>A	ENST00000370425.3	-	12	1506	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L149F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	470	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCATCTGAAAGCCATTCTGCA	0.363000													87	80					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21031159	21031159	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21031159C>T	ENST00000261383.3	-	41	5808	c.5809G>A	c.(5809-5811)Gaa>Aaa	p.E1937K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1937					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCACCTAATTCCATTTCCTCC	0.483000													60	69					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61553830	61553830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:61553830C>T	ENST00000403491.3	+	2	521	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	NFIA_ENST00000371191.1_Missense_Mutation_p.H36Y|NFIA_ENST00000371187.3_Missense_Mutation_p.H13Y|NFIA_ENST00000371185.2_Missense_Mutation_p.H13Y|NFIA_ENST00000407417.3_Missense_Mutation_p.H5Y|NFIA_ENST00000485903.2_Missense_Mutation_p.H13Y|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371184.2_Missense_Mutation_p.H13Y|NFIA_ENST00000371189.4_Missense_Mutation_p.H58Y	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	13					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GGATGAATTTCATCCTTTCAT	0.378000													69	133					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14974654	14974654	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:14974654G>A	ENST00000285046.5	+	20	4479	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K	FGD5_ENST00000543601.1_Missense_Mutation_p.E1173K|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1457	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CGAGGCCATGGAAGATGCGAG	0.428000													11	23					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33741745	33741745	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:33741745C>T	ENST00000539719.1	+	3	253	c.83C>T	c.(82-84)cCt>cTt	p.P28L	ZNF362_ENST00000373428.5_Missense_Mutation_p.P28L	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGCCCCCTCCTCCCACCATG	0.662000													33	70					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100361870	100361870	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:100361870C>T	ENST00000294724.4	+	25	3766	c.3288C>T	c.(3286-3288)ttC>ttT	p.F1096F	AGL_ENST00000370161.2_Silent_p.F1080F|AGL_ENST00000370163.3_Silent_p.F1096F|AGL_ENST00000361522.4_Silent_p.F1079F|AGL_ENST00000361915.3_Silent_p.F1096F|AGL_ENST00000361302.3_Silent_p.F1080F|AGL_ENST00000370165.3_Silent_p.F1096F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1096					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGGTATTTTCCGCTGCTGGG	0.373000													97	178					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417464	150417464	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150417464C>T	ENST00000307194.5	+	3	512	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGTCGGTTCACCGCCCAGG	0.627000													46	61					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432456	104432456	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:104432456C>T	ENST00000361820.3	-	3	2838	c.2238G>A	c.(2236-2238)atG>atA	p.M746I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	746					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCCAAAGGTTCATTAGAAACC	0.438000													149	47					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235631	102235631	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:102235631C>T	ENST00000376180.3	+	6	1012	c.793C>T	c.(793-795)Cat>Tat	p.H265Y	ITGBL1_ENST00000376162.3_Missense_Mutation_p.H172Y|ITGBL1_ENST00000545560.2_Missense_Mutation_p.H124Y	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	265	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGAGATATTCATGGGGACAC	0.458000													42	229					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982427	36982427	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:36982427C>G	ENST00000274963.8	+	7	1000	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	277	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TTCAGAAGCCCTGGACATGAT	0.602000													30	57					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48818845	48818845	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:48818845G>A	ENST00000309835.3	+	2	1994	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E662K|STON1_ENST00000406226.1_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E662K|STON1_ENST00000404752.1_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E662K					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCAGACCAAGAAATTCCCTC	0.438000													89	267					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718015	73718015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:73718015G>A	ENST00000264448.6	+	10	9037	c.8926G>A	c.(8926-8928)Gat>Aat	p.D2976N	ALMS1_ENST00000409009.1_Missense_Mutation_p.D2934N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2976					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCAGGTGTAGATGACCAAAT	0.408000													40	212					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103198474	103198474	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:103198474G>A	ENST00000428762.1	-	37	5711	c.5552C>T	c.(5551-5553)tCa>tTa	p.S1851L	RELN_ENST00000343529.5_Missense_Mutation_p.S1851L|RELN_ENST00000424685.2_Missense_Mutation_p.S1851L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1851					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGATCTCTTGAAATAAGCAT	0.279000													44	60					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170476941	170476941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:170476941G>A	ENST00000439128.2	-	17	2132	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.P498S|NEK1_ENST00000511633.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	498					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGCATCAGGAAAATGGTGA	0.413000													45	59					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868369	31868369	+	Silent	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31868369G>A	ENST00000375527.2	-	2	889	c.714C>T	c.(712-714)tcC>tcT	p.S238S	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	238	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGCCACCCACGGAGCCTCCAA	0.662000													35	57					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795810	69795810	+	Splice_Site	SNP	A	A	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:69795810A>C	ENST00000251566.4	-	6	1335	c.1304_splice	c.e6-1	p.S435_splice	UGT2A3_ENST00000420231.2_Splice_Site_p.S146_splice	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	435						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTATAACTGGAAGGGA	0.378000													25	92					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052244	17052244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:17052244G>A	ENST00000418129.2	+	2	1493	c.1028G>A	c.(1027-1029)aGt>aAt	p.S343N	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.S343N|PLCL2_ENST00000396755.2_Missense_Mutation_p.S343N	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	469					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTTGCCGGAGTGTTGAATTA	0.418000													12	169					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507968	37507968	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:37507968G>A	ENST00000374660.1	+	40	3616	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1054K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1054K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1142						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTTGAAAAAGGAAATTGCCAT	0.289000													33	36					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532236	40532236	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:40532236C>A	ENST00000297737.6	-	5	710	c.564G>T	c.(562-564)atG>atT	p.M188I	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	188						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TCAGTTCCCCCATATCCAGGG	0.458000													41	71					2.66277e-13	2.73413e-13	1	1	0
ZNF793	390927	broad.mit.edu	37	19	38024303	38024303	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:38024303G>T	ENST00000445217.1	+	3	271	c.236G>T	c.(235-237)tGg>tTg	p.W79L	ZNF793_ENST00000587143.1_Missense_Mutation_p.W79L|ZNF793_ENST00000542455.1_Missense_Mutation_p.W79L|ZNF793_ENST00000588578.1_Missense_Mutation_p.W79L|ZNF793_ENST00000589319.1_Missense_Mutation_p.W79L|ZNF793_ENST00000587986.1_Missense_Mutation_p.W79L			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCCACTGTTGGGGTAAGTGT	0.498000													11	48					3.03607e-14	3.12792e-14	1	1	0
BMP3	651	broad.mit.edu	37	4	81952525	81952525	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:81952525C>T	ENST00000282701.2	+	1	407	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	29					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCCACCTTTCCCGGAGCTCC	0.662000													4	15					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862254	11862254	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:11862254G>A	ENST00000396516.2	-	11	1474	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.P426L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	426						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGATGAAGATGGTTTGGTAAC	0.418000													38	161					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6533032	6533032	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:6533032C>T	ENST00000321612.6	-	25	3198	c.3048G>A	c.(3046-3048)aaG>aaA	p.K1016K		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	1016					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			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)	AAGACGCCCTCTTTTGTTCAG	0.463000													22	31					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84798870	84798870	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:84798870A>T	ENST00000257776.4	+	4	423	c.288A>T	c.(286-288)agA>agT	p.R96S		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	96					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ACTTTGGAAGACCTCTGGAGC	0.438000													30	86					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39602391	39602391	+	Silent	SNP	T	T	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:39602391T>C	ENST00000265708.4	-	20	2299	c.2196A>G	c.(2194-2196)gaA>gaG	p.E732E	ADAM2_ENST00000521880.1_Silent_p.E669E|ADAM2_ENST00000379853.2_Silent_p.E576E|ADAM2_ENST00000347580.4_Silent_p.E713E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	732					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACCCTTTAGGTTCACTCTCAC	0.323000													30	108					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9570884	9570884	+	Silent	SNP	C	C	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:9570884C>T	ENST00000460593.1	+	4	1243	c.105C>T	c.(103-105)ttC>ttT	p.F35F	CPSF3_ENST00000238112.3_Silent_p.F72F			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	72					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTTAAGTTTCCATTTGGATC	0.338000													74	132					0	0	1	0	0
AC007040.8	0	broad.mit.edu	37	2	71256012	71256021	+	RNA	DEL	TCTTTTATTT	TCTTTTATTT	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:71256012_71256021delTCTTTTATTT	ENST00000434990.1	-	0	61																											CTGGTTTTTATCTTTTATTTTTCCAACCTT	0.443													3	6	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29999372	29999373	+	RNA	INS	-	-	G	rs28383973		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:29999372_29999373insG	ENST00000444051.1	-	0	108				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA	NR_103542.1																						cagaaaaaaaaagagagagaga	0.332													2	4	---	---	---	---					
MAN1A1	4121	broad.mit.edu	37	6	119628120	119628126	+	Frame_Shift_Del	DEL	GCATAAC	GCATAAC	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:119628120_119628126delGCATAAC	ENST00000368468.3	-	3	1076_1082	c.635_641delGTTATGC	c.(634-642)gcfs	p.GYA212fs	MAN1A1_ENST00000368466.2_Frame_Shift_Del_p.GYA235fs	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	212					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TAATCCCCAGGCATAACCTTTATAATT	0.314													65	134	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													4	6	---	---	---	---					
BAZ1A	11177	broad.mit.edu	37	14	35254990	35254995	+	In_Frame_Del	DEL	CAAATC	CAAATC	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:35254990_35254995delCAAATC	ENST00000360310.1	-	14	2386_2391	c.1819_1824delGATTTG	c.(1819-1824)del	p.DL607del	BAZ1A_ENST00000358716.4_In_Frame_Del_p.DL575del|BAZ1A_ENST00000382422.2_In_Frame_Del_p.DL607del	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	607					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TACCTGGTGTCAAATCATACACTGAG	0.417													49	97	---	---	---	---					
RP11-909M7.3	0	broad.mit.edu	37	14	101439963	101439963	+	RNA	DEL	G	G	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:101439963delG	ENST00000554693.2	+	0	384				SNORD114-16_ENST00000363044.1_RNA																							TGTGAGTCACGCATAATGAAC	0.358													47	117	---	---	---	---					
LMF2	91289	broad.mit.edu	37	22	50946063	50946063	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:50946063delG	ENST00000474879.2	-	1	57	c.42delC	c.(40-42)ggfs	p.G14fs	LMF2_ENST00000380796.3_Frame_Shift_Del_p.G14fs|LMF2_ENST00000216080.5_5'UTR	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	14						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCGCCACGCCCTGGAGGA	0.721													4	6	---	---	---	---					
