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
CCT8	10694	broad.mit.edu	37	21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368000													5	102					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	72					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50215184	50215184	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:50215184G>A	ENST00000392518.4	+	17	2357	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000405931.2_Missense_Mutation_p.R651Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R662Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R662Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	662					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCGTGTCCCGATTCCTCCAC	0.607000													24	104					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10106529	10106529	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:10106529G>A	ENST00000287647.3	+	23	2231	c.2138G>A	c.(2137-2139)gGt>gAt	p.G713D	FANCD2_ENST00000383807.1_Missense_Mutation_p.G713D|FANCD2_ENST00000383806.1_Missense_Mutation_p.G713D|FANCD2_ENST00000419585.1_Missense_Mutation_p.G713D	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	713					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGATGGGGGTCCGGTGACC	0.463000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	243					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118771054	118771054	+	Missense_Mutation	SNP	A	A	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:118771054A>C	ENST00000394610.1	-	7	1156	c.892T>G	c.(892-894)Tat>Gat	p.Y298D	SEPT6_ENST00000394617.2_Missense_Mutation_p.Y328D|SEPT6_ENST00000343984.5_Missense_Mutation_p.Y298D|SEPT6_ENST00000354416.3_Missense_Mutation_p.Y298D|SEPT6_ENST00000354228.4_Missense_Mutation_p.Y298D|SEPT6_ENST00000489216.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000394616.4_Missense_Mutation_p.Y240D|SEPT6_ENST00000360156.7_Missense_Mutation_p.Y298D	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	298					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CAGCGGCGATACAGCTCATAG	0.612000			T	MLL	AML								50	137					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679691	160679691	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:160679691G>A	ENST00000366952.1	-	3	1517	c.36C>T	c.(34-36)ttC>ttT	p.F12F	SLC22A2_ENST00000366953.3_Silent_p.F33F|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	33					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGATGGGCGCGAAGGTAGCCG	0.612000													33	71					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	89					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675022	3675022	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:3675022G>A	ENST00000344754.4	-	12	3101	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	SIGLEC1_ENST00000202578.4_Silent_p.P1034P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1034	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTGCCTTCGGGTCCCCCCA	0.652000													39	92					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	56					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34870998	34870998	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34870998T>A	ENST00000431794.3	-	8	1097	c.575A>T	c.(574-576)aAc>aTc	p.N192I	MYO19_ENST00000268852.9_Missense_Mutation_p.N192I|MYO19_ENST00000586007.1_Missense_Mutation_p.N192I|MYO19_ENST00000544606.1_Missense_Mutation_p.N58I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	192	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGACTGCTGTTGTTATTCCT	0.517000													10	34					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801992	185801992	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:185801992G>C	ENST00000302277.6	+	4	2463	c.1869G>C	c.(1867-1869)gaG>gaC	p.E623D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	623						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGAAGCAGAGAATAGTTACA	0.338000													5	262					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424816	69424816	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:69424816C>A	ENST00000333026.3	+	7	974	c.874C>A	c.(874-876)Cca>Aca	p.P292T		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463000													7	21					8.12818e-05	8.66411e-05	1	1	0
TSTD2	158427	broad.mit.edu	37	9	100364973	100364973	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:100364973G>A	ENST00000341170.4	-	10	1711	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	TSTD2_ENST00000375173.1_Silent_p.T39T|TSTD2_ENST00000375172.2_Intron	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	443										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCAGGGCAGGTCAAAACGA	0.527000													3	126					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8605771	8605771	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:8605771T>A	ENST00000382480.2	+	4	954	c.154T>A	c.(154-156)Tcc>Acc	p.S52T	CPZ_ENST00000360986.4_Missense_Mutation_p.S189T|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.S178T	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	189	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCCACCACTCCTACGCCCA	0.697000													5	67					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613508	613508	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:613508C>G	ENST00000409413.3	+	2	493	c.214C>G	c.(214-216)Cca>Gca	p.P72A		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	72										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GCTAGACTCCCCAGACTGGGC	0.662000													15	35					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67012703	67012703	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67012703C>T	ENST00000529006.2	+	14	2053	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KDM2A_ENST00000308783.5_5'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.P97L|KDM2A_ENST00000398645.2_Missense_Mutation_p.P536L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCTACCATCCCCATTACGAAG	0.527000													109	203					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130416966	130416966	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:130416966T>A	ENST00000370904.1	-	12	1823	c.913A>T	c.(913-915)Atc>Ttc	p.I305F	IGSF1_ENST00000361420.3_Missense_Mutation_p.I314F|IGSF1_ENST00000370903.3_Missense_Mutation_p.I314F|IGSF1_ENST00000370910.1_Missense_Mutation_p.I305F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	314	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCACCCAGATTTTCAGGACA	0.433000													49	89					0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66525624	66525624	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:66525624T>C	ENST00000276569.3	-	4	564	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	107					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGAATGTCATAGATTTCAGA	0.348000													52	77					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236729279	236729279	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:236729279G>C	ENST00000366582.3	-	31	4489	c.4375C>G	c.(4375-4377)Cag>Gag	p.Q1459E	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1378E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1459					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGTATCTGATGCTGGACA	0.378000													34	58					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	93					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155307970	155307970	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:155307970T>C	ENST00000368346.3	-	27	9367	c.8728A>G	c.(8728-8730)Acc>Gcc	p.T2910A	ASH1L_ENST00000392403.3_Missense_Mutation_p.T2905A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2910					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGGTACAGGTTGACTGGGGT	0.488000													34	89					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065420	9065420	+	Silent	SNP	T	T	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:9065420T>G	ENST00000397910.4	-	3	22229	c.22026A>C	c.(22024-22026)acA>acC	p.T7342T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7344	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						ATGTGTCTAATGTAAAGGTAC	0.458000													33	57					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44432018	44432018	+	Splice_Site	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:44432018G>A	ENST00000372622.3	+	8	671		c.e8+1			NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1							nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCCCCAAGGTATGATTATG	0.507000													15	47					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428474	57428474	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:57428474G>A	ENST00000371100.4	+	1	706	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.E52K|GNAS_ENST00000371099.2_Missense_Mutation_p.E52K|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GATGGAGACCGAACCGCCTCA	0.652000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			2	6					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													2	8					0.0784	0.0800505	1	1	0
DBN1	1627	broad.mit.edu	37	5	176893991	176893991	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:176893991G>A	ENST00000292385.5	-	8	1243	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	DBN1_ENST00000393565.1_Missense_Mutation_p.R210W|DBN1_ENST00000309007.5_Missense_Mutation_p.R210W	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	210					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCCATCCGCTCCTGCTCG	0.667000													3	70					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150936158	150936158	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:150936158G>A	ENST00000271640.5	+	20	3800	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	SETDB1_ENST00000368969.4_Missense_Mutation_p.E1204K|CERS2_ENST00000561294.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1204	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATGATGGCGAGGAGTCTTG	0.517000													129	148					0	0	1	0	0
PLEKHM1P	0	broad.mit.edu	37	17	62788499	62788499	+	RNA	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:62788499G>A	ENST00000582986.1	-	0	2110					NR_024386.1													p.C410C(1)									CGCCACTCCGGCACAGGCCCA	0.577000													3	73					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955323	19955323	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:19955323G>A	ENST00000396085.1	+	7	1894	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	NAV2_ENST00000540292.1_Silent_p.T465T|NAV2_ENST00000360655.4_Silent_p.T447T|NAV2_ENST00000396087.3_Silent_p.T534T|NAV2_ENST00000527559.2_Silent_p.T463T|NAV2_ENST00000349880.4_Silent_p.T511T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	534						nucleus	ATP binding|helicase activity	p.T534T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCTGTGACGGAGAGGCTGG	0.517000													3	102					0	0	1	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007755	32007755	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:32007755G>T	ENST00000330798.2	+	1	201	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	58						intermediate filament		p.R58T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGCTATGGAAGATACTGGTCC	0.507000													8	192					0.0381472	0.0393647	1	1	0
IL1R1	3554	broad.mit.edu	37	2	102781357	102781357	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:102781357G>A	ENST00000410023.1	+	4	503	c.185G>A	c.(184-186)aGc>aAc	p.S62N	IL1R1_ENST00000424272.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409929.1_Missense_Mutation_p.S62N|IL1R1_ENST00000233946.3_Missense_Mutation_p.S62N|IL1R1_ENST00000409329.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409288.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409589.1_Missense_Mutation_p.S62N			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	62	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AAAGATGACAGCAAGACACCT	0.383000													3	92					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118556676	118556676	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:118556676C>A	ENST00000311085.8	+	36	8194	c.8114C>A	c.(8113-8115)aCa>aAa	p.T2705K	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.T2726K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2705										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GATGATTTAACAGCTGTTCAA	0.388000													3	100					0.004672	0.00487295	1	1	0
ATP4A	495	broad.mit.edu	37	19	36045884	36045884	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:36045884G>A	ENST00000262623.3	-	16	2449	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	807					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGGGCACGCTGACGGTGATGT	0.547000													47	59					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	71					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120436924	120436924	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:120436924C>A	ENST00000369400.1	-	1	2194	c.2036G>T	c.(2035-2037)aGa>aTa	p.R679I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	679					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATCGCCCCTCTGAGCAGTCC	0.468000													3	98					0.115264	0.115264	1	1	0
POU2AF1	5450	broad.mit.edu	37	11	111228348	111228348	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:111228348G>A	ENST00000393067.3	-	4	792	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	93					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CAGGGTGGCCGGGGTGGGCTG	0.627000			T	BCL6	NHL								3	68					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159178397	159178397	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:159178397A>G	ENST00000297239.9	+	13	1486	c.1292A>G	c.(1291-1293)cAt>cGt	p.H431R	SYTL3_ENST00000367081.3_Missense_Mutation_p.H157R|SYTL3_ENST00000360448.3_Missense_Mutation_p.H363R			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	431					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCCGCTGGCATCCGCTCCGG	0.527000													18	83					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33247184	33247184	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:33247184G>A	ENST00000327671.5	-	4	1140	c.509C>T	c.(508-510)aCt>aTt	p.T170I	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.T142I|FUT10_ENST00000524021.1_Missense_Mutation_p.T142I|FUT10_ENST00000335589.3_Missense_Mutation_p.T108I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	170					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GAACGTGGCAGTGTAGTTGAA	0.463000													3	154					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528133	157528133	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:157528133G>A	ENST00000346085.5	+	20	5859	c.5858G>A	c.(5857-5859)cGt>cAt	p.R1953H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1935H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1940H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1993H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1940					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1935H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AATATTGTCCGTAGCTTGTCA	0.557000													5	263					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		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				52	83					0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10369175	10369175	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10369175G>A	ENST00000393733.2	+	7	666	c.639G>A	c.(637-639)ggG>ggA	p.G213G	MRPL4_ENST00000307422.5_Silent_p.G213G|MRPL4_ENST00000588502.1_Silent_p.G212G|MRPL4_ENST00000590669.1_Silent_p.G213G|MRPL4_ENST00000253099.6_Silent_p.G213G|CTD-2369P2.5_ENST00000592893.1_RNA			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	213					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G213G(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GCCGCTGGGGGGACTCCGTAC	0.647000													3	124					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8146248	8146248	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8146248A>G	ENST00000600128.1	-	58	7744	c.7330T>C	c.(7330-7332)Tgc>Cgc	p.C2444R	FBN3_ENST00000601739.1_Missense_Mutation_p.C2444R|FBN3_ENST00000270509.2_Missense_Mutation_p.C2444R			Q75N90	FBN3_HUMAN	fibrillin 3	2444	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACCTTTGCAGGTCCTGCCA	0.587000													3	54					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713500	218713500	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:218713500G>A	ENST00000171887.4	-	17	1817	c.1365C>T	c.(1363-1365)ggC>ggT	p.G455G	TNS1_ENST00000430930.1_Silent_p.G455G|TNS1_ENST00000419504.1_Silent_p.G455G|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	455						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTACATGGCGCCTTGCTTCT	0.657000													3	101					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													7	59					0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	332688	332688	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:332688G>A	ENST00000219409.3	+	6	627	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	184					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCCGGTGGAGGAAGCGCCGA	0.642000													3	36					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62494174	62494174	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:62494174C>T	ENST00000301785.5	-	1	647	c.455G>A	c.(454-456)aGg>aAg	p.R152K	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.R152K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	152	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCTTCCTCCCTCTTGCCGAG	0.706000													17	34					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:33582119C>T	ENST00000262873.7	+	25	2833	c.2741C>T	c.(2740-2742)gCg>gTg	p.A914V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	872						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672000													3	66					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839566	27839566	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:27839566A>G	ENST00000356790.2	+	3	388	c.143A>G	c.(142-144)gAt>gGt	p.D48G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	48										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGTTTGAAGGATGTTTTCCAG	0.522000													13	30					0	0	1	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830608	43830608	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:43830608C>G	ENST00000372458.3	-	4	426	c.309G>C	c.(307-309)gaG>gaC	p.E103D	ELOVL1_ENST00000413844.2_Intron|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	103					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTAAGTGCCTCAGGGCTGT	0.557000													15	30					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57889901	57889901	+	Missense_Mutation	SNP	T	T	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:57889901T>G	ENST00000381227.1	+	21	3253	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	POLR2B_ENST00000314595.5_Missense_Mutation_p.I947S|POLR2B_ENST00000431623.2_Missense_Mutation_p.I872S|POLR2B_ENST00000441246.2_Missense_Mutation_p.I940S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	947					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACTTGTGGTATTCAGTATAGA	0.333000													60	98					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978313	71978313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr12:71978313G>A	ENST00000266674.5	+	18	2834	c.2523G>A	c.(2521-2523)tgG>tgA	p.W841*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.W817*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.W769*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	841						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						CCTACGTCTGGACAAGATCAA	0.448000													25	51					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582000													3	52					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925361	67925361	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67925361A>G	ENST00000304363.4	-	11	2805	c.2452T>C	c.(2452-2454)Tat>Cat	p.Y818H		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACTGACTATAGTCATCCACC	0.448000													62	106					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572532	53572532	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:53572532G>A	ENST00000601421.1	-	3	2023	c.1147C>T	c.(1147-1149)Cac>Tac	p.H383Y	ZNF160_ENST00000599056.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.H419Y			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	419					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTGTGGATTGTCTGA	0.428000													5	196					0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25175977	25175977	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:25175977G>A	ENST00000399069.3	+	7	783	c.628G>A	c.(628-630)Gca>Aca	p.A210T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A155T|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	210							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGAGCAGTCCGCAAACCTCCT	0.428000													3	131					0	0	1	0	0
ZNF195	0	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.K508K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													3	113					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726422	69726422	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:69726422G>A	ENST00000349945.1	+	14	3964	c.2412G>A	c.(2410-2412)caG>caA	p.Q804Q	NFAT5_ENST00000393742.2_Silent_p.Q804Q|NFAT5_ENST00000566899.1_Silent_p.Q804Q|NFAT5_ENST00000567239.1_Silent_p.Q897Q|NFAT5_ENST00000432919.1_Silent_p.Q898Q|NFAT5_ENST00000354436.2_Silent_p.Q880Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	880					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATcaacagcagcagcagc	0.478000													3	63					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:2129435T>C	ENST00000355272.6	-	7	820	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.N205S|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCAGATGACATTGACGGCAGC	0.577000													11	82					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842269	8842269	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8842269G>A	ENST00000324060.2	+	1	954	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGTCTGAGGAATCCGGAGG	0.522000													5	119					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275908	152275908	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:152275908C>T	ENST00000368799.1	-	3	11489	c.11454G>A	c.(11452-11454)caG>caA	p.Q3818Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3818	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)			CGTCTCCTGACTGTTCCTCAT	0.582000									Ichthyosis				5	611					0	0	1	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:42538870A>C	ENST00000433992.1	-	0	475				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	26					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378000													3	245					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698774	111698774	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:111698774G>A	ENST00000340433.2	+	1	1048	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	273							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAACGAGCCCGCCAGCAAGAA	0.552000													4	161					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216458	139216458	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:139216458C>T	ENST00000274710.3	+	10	1671	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	489					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGGCACGAAGAAGGTG	0.592000													6	201					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650393	55650393	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:55650393C>T	ENST00000339140.3	+	1	561	c.249C>T	c.(247-249)gaC>gaT	p.D83D		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	83					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTGGGTGGACCCCAATATCC	0.552000													32	50					0	0	1	0	0
PSG8	0	broad.mit.edu	37	19	43269731	43269731	+	Translation_Start_Site	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:43269731C>T	ENST00000404209.4	-	1	99	c.3G>A	c.(1-3)atG>atA	p.M1I	PSG8_ENST00000406636.3_Start_Codon_SNP_p.M1I|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Start_Codon_SNP_p.M1I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	1						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGAGGAGCCCCATGGTCTCTG	0.597000													34	52					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50315381	50315381	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:50315381C>T	ENST00000404488.3	+	5	699	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CRELD2_ENST00000328268.4_Silent_p.L188L|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Silent_p.L188L|CRELD2_ENST00000407217.3_Silent_p.L188L	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	188						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCTCGCTCCGGAACGAGA	0.677000													6	177					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105165806	105165806	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:105165806G>A	ENST00000369797.3	+	6	723	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	210	S1 motif 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTGTTGATGGGACCAGAGCT	0.512000													3	176					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47281988	47281988	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:47281988G>A	ENST00000542575.2	-	5	1630	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC1A5_ENST00000434726.2_Silent_p.Y132Y|SLC1A5_ENST00000412532.2_Silent_p.Y106Y|SLC1A5_ENST00000594991.1_Silent_p.Y158Y	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	334					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGAAGCGGTAGGGGTTTT	0.597000													3	63					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436640	16436640	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:16436640C>T	ENST00000380672.4	-	6	1609	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	BNC2_ENST00000380667.2_Missense_Mutation_p.A451T|BNC2_ENST00000380666.2_Missense_Mutation_p.A518T|BNC2_ENST00000545497.1_Missense_Mutation_p.A423T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGGGGTGGCAGCTCCTGAG	0.512000													49	102					0	0	1	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34842567	34842567	+	Silent	SNP	C	C	T	rs139241535	byFrequency	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34842567C>T	ENST00000225410.4	+	1	89	c.24C>T	c.(22-24)acC>acT	p.T8T	ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000590858.1_5'UTR|ZNHIT3_ENST00000592616.1_Silent_p.T8T	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	8					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		AATGTAGCACCGTCGTCTGCG	0.657000													11	401					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161571	90161571	+	RNA	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:90161571A>G	ENST00000567960.1	+	0	307				TUBB8P7_ENST00000564451.1_RNA																							CAACTGGGCCAAGGGACGCTA	0.577000													3	60					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337082	115337082	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:115337082A>G	ENST00000337530.6	+	2	1018	c.722A>G	c.(721-723)cAc>cGc	p.H241R	KIAA1958_ENST00000536272.1_Missense_Mutation_p.H241R|KIAA1958_ENST00000374244.3_Missense_Mutation_p.H241R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	241										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCAGACTCACGCTGGTCCC	0.532000													50	132					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38749066	38749066	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:38749066C>T	ENST00000359357.3	+	14	1779	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	DNAH8_ENST00000441566.1_Missense_Mutation_p.R509C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R726C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCTCTTGCTCGCAACATGCC	0.383000													50	108					0	0	1	0	0
RPL32P3	0	broad.mit.edu	37	3	129116015	129116015	+	RNA	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:129116015A>G	ENST00000514355.1	-	0	412																				lung(1)	1						CAGGTGAGGAAGAATCCTGGA	0.532000													3	163					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215193	32215193	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:32215193A>G	ENST00000400246.1	+	22	1994	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	DEPDC5_ENST00000266091.3_Missense_Mutation_p.M618V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.M590V|DEPDC5_ENST00000400248.1_Missense_Mutation_p.M618V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.M618V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.M618V			O75140	DEPD5_HUMAN	DEP domain containing 5	618					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGCGCTGGATGCACACTTT	0.557000													26	100					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463000													3	221					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901566	37901566	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:37901566C>T	ENST00000309156.4	+	10	1339	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	GRB7_ENST00000394209.2_Missense_Mutation_p.S361F|GRB7_ENST00000394211.3_Missense_Mutation_p.S361F|GRB7_ENST00000394204.1_Missense_Mutation_p.S361F|GRB7_ENST00000445327.2_Missense_Mutation_p.S384F|GRB7_ENST00000309185.3_Missense_Mutation_p.S361F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	361					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTTGGGCTCCCCACCCTTG	0.592000													21	90					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074413	8074413	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:8074413T>A	ENST00000469499.1	-	3	380	c.169A>T	c.(169-171)Aga>Tga	p.R57*	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Silent_p.A82A			Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	0					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GACCATTTTCTGCAAAGCAGT	0.443000													4	256					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61947922	61947922	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:61947922G>A	ENST00000422202.1	+	20	2631	c.2563G>A	c.(2563-2565)Gcc>Acc	p.A855T	COL20A1_ENST00000326996.6_Missense_Mutation_p.A848T|COL20A1_ENST00000435874.1_Missense_Mutation_p.A855T|COL20A1_ENST00000358894.6_Missense_Mutation_p.A848T			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	848	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGATGGTGGCCTTCAGCCT	0.652000													7	10					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25471030	25471043	+	Frame_Shift_Del	DEL	GGGCTGGCCTCCTC	GGGCTGGCCTCCTC	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:25471030_25471043delGGGCTGGCCTCCTC	ENST00000264709.3	-	7	1055_1068	c.718_731delGAGGAGGCCAGCCC	c.(718-732)tfs	p.EEASP240fs	DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.EEASP17fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.EEASP51fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.EEASP240fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	240	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGA	0.584			"""Mis, F, N, S"""		AML								19	109	---	---	---	---					
PRDM1	639	broad.mit.edu	37	6	106547263	106547264	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:106547263_106547264insT	ENST00000369096.4	+	4	734_735	c.500_501insT	c.(499-501)tccfs	p.S167fs	PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.S131fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.S33fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	167	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCAGCACACTCTCCCCGGGAGC	0.485			"""D, N, Mis, F, S"""		DLBCL								36	102	---	---	---	---					
ERICH1-AS1	0	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA																							GGTGGCTGGCAGGGCAGGGTGG	0.713													4	6	---	---	---	---					
FAM74A3	0	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													3	5	---	---	---	---					
PPP6R3	55291	broad.mit.edu	37	11	68331877	68331877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:68331877delG	ENST00000393799.2	+	9	1219	c.952delG	c.(952-954)aafs	p.E318fs	PPP6R3_ENST00000265636.5_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000524904.1_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000393800.2_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000393801.3_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000527403.2_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000265637.4_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000524845.1_Frame_Shift_Del_p.E318fs			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	318					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATCTTTTCATGAACTCCTGCT	0.483													52	188	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													3	5	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	5	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	2	---	---	---	---					
MLH3	27030	broad.mit.edu	37	14	75514604	75514604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr14:75514604delT	ENST00000355774.2	-	2	1970	c.1755delA	c.(1753-1755)aafs	p.K585fs	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Del_p.K585fs|MLH3_ENST00000556740.1_Frame_Shift_Del_p.K585fs|MLH3_ENST00000556257.1_Frame_Shift_Del_p.K585fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	585					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.A577_S588delAQTEKEKKKESS(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGCTAGATTCTTTTTTTTTCT	0.358								Mismatch excision repair (MMR)					7	135	---	---	---	---					
CTB-58E17.3	0	broad.mit.edu	37	17	36861701	36861703	+	RNA	DEL	GAG	GAG	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:36861701_36861703delGAG	ENST00000583409.1	-	0	208																											CAGAGCGAGCgaggaggaggagg	0.734													3	4	---	---	---	---					
EIF3G	8666	broad.mit.edu	37	19	10230518	10230519	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10230518_10230519delAA	ENST00000253108.4	-	1	59_60	c.17_18delTT	c.(16-18)tfs	p.F6fs	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	6						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGACTCACTCAAAGTCTCCAGT	0.649											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	141	---	---	---	---					
RRP7B	0	broad.mit.edu	37	22	42976253	42976253	+	RNA	DEL	A	A	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:42976253delA	ENST00000357802.2	-	0	222																											CATTGAAGACAAAAAGAGTCC	0.557													9	9	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	11	---	---	---	---