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
TBC1D9	23158	broad.mit.edu	37	4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:141543453G>T	uc010ioj.3	-	20	3969	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1233						intracellular	Rab GTPase activator activity|calcium ion binding	p.P1233T(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592000													9	53					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144643931	144643931	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:144643931C>A	uc003yyf.3	+	7	943	c.900C>A	c.(898-900)agC>agA	p.S300R	GSDMD_uc010mfe.3_Missense_Mutation_p.S252R|GSDMD_uc003yyg.3_Missense_Mutation_p.S252R|GSDMD_uc003yyh.3_Missense_Mutation_p.S183R	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	252								p.S252R(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTTCCACGAGCGAAGGCGCCT	0.672000													3	15					0	0	1	0	0
AK098438	0	broad.mit.edu	37	1	21752738	21752738	+	RNA	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:21752738A>C	uc001bep.1	-	2		c.238T>G								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		ATCCACGTCAAGAGAAAAGCC	0.458000													8	113					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46066301	46066301	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr13:46066301G>T	uc001vak.3	+	10	1245	c.1103G>T	c.(1102-1104)aGt>aTt	p.S368I	COG3_uc001vai.3_Missense_Mutation_p.S368I|COG3_uc010tfv.2_Missense_Mutation_p.S205I|COG3_uc010aci.3_Missense_Mutation_p.S144I	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	368					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity	p.S368I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAGGTTCGTAGTGGCTGTGCC	0.383000													3	34					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183908945	183908945	+	Missense_Mutation	SNP	A	A	C	rs140615216		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr3:183908945A>C	uc003fmz.2	+	15	1604	c.1471A>C	c.(1471-1473)Att>Ctt	p.I491L	ABCF3_uc003fna.2_Missense_Mutation_p.I485L|ABCF3_uc003fnb.2_Missense_Mutation_p.I172L	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	491							ATP binding|ATPase activity	p.I491L(2)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCGCCGCCAATTCTGCAGCT	0.557000													8	119					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053386	133053386	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:133053386C>T	uc003ytg.2	-	3	314	c.314G>A	c.(313-315)cGc>cAc	p.R105H	OC90_uc011lix.1_Missense_Mutation_p.R121H	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	121	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.R317H(1)|p.R127H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ATAGCACCTGCGGTGCTGGAA	0.557000													5	94					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59282122	59282122	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:59282122C>G	uc001sqr.3	-	6	1182	c.936G>C	c.(934-936)aaG>aaC	p.K312N	LRIG3_uc009zqh.3_Missense_Mutation_p.K252N|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	312						integral to membrane		p.K312N(3)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTCACTGAGCTTCTGGCAGA	0.493000			T	ROS1	NSCLC								8	77					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101488062	101488062	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:101488062C>T	uc010svm.1	+	17	2302	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	ANO4_uc001thw.2_Missense_Mutation_p.T542M|ANO4_uc001thx.2_Missense_Mutation_p.T577M|ANO4_uc001thy.2_Missense_Mutation_p.T97M	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	577						chloride channel complex	chloride channel activity	p.T542M(1)|p.I576I(1)		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						CTGCTTCTGACGAATTTAGGT	0.328000										HNSCC(74;0.22)			5	55					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159567948	159567948	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:159567948G>A	uc003ipz.3	+	15	1614	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	RXFP1_uc010iqk.3_Missense_Mutation_p.D319N|RXFP1_uc011cja.2_Missense_Mutation_p.D346N|RXFP1_uc010iqo.3_Missense_Mutation_p.D403N|RXFP1_uc011cjb.2_Missense_Mutation_p.D349N|RXFP1_uc011cjc.2_Missense_Mutation_p.D370N|RXFP1_uc011cjd.2_Missense_Mutation_p.D370N|RXFP1_uc010iql.3_Missense_Mutation_p.D295N|RXFP1_uc011cje.2_Missense_Mutation_p.D478N|RXFP1_uc010iqm.3_Missense_Mutation_p.D418N|RXFP1_uc011cjf.2_Missense_Mutation_p.D320N|RXFP1_uc010iqn.3_Missense_Mutation_p.D396N	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	451						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.D451N(2)|p.A450D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTAGGTGCCGACTGCTTAAT	0.348000													9	85					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783609	43783609	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:43783609C>T	uc001ciu.3	+	16	2965	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	TIE1_uc010oke.2_Missense_Mutation_p.R885W|TIE1_uc009vwq.3_Missense_Mutation_p.R886W|TIE1_uc010okg.2_Missense_Mutation_p.R575W	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	930	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R930W(3)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGATTTTCTGCGGAAAAGCCG	0.527000													28	298					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199261	24199261	+	Silent	SNP	C	C	T	rs149263503	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:24199261C>T	uc003xdy.3	+	15	1904	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G294G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	607	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G607G(3)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408000													5	89					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72036214	72036214	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:72036214A>C	uc001swo.2	-	6	1986	c.1627_splice	c.e6+1	p.A543_splice		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	543	Pro-rich.				RNA processing	intracellular	metal ion binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGCTCATACCTGGAGAAC	0.343000													7	68					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132081914	132081914	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:132081914A>C	uc010sci.2	+	4	732	c.401_splice	c.e4-2	p.V134_splice	NTM_uc001qgm.3_Splice_Site_p.V134_splice|NTM_uc010sch.2_Splice_Site_p.V125_splice|NTM_uc010scj.2_Splice_Site_p.V93_splice|NTM_uc001qgo.3_Splice_Site_p.V134_splice|NTM_uc001qgq.3_Splice_Site_p.V134_splice|NTM_uc001qgp.3_Splice_Site_p.V134_splice	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	134					cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGTTTCCACAGTATCTCCCA	0.383000													4	35					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178483090	178483090	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:178483090G>A	uc002ulo.3	-	0	605	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	114					cell projection organization	cilium	binding	p.R114W(2)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGGAGGACCCGGCTGTGGTAG	0.642000													10	71					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76459153	76459153	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:76459153C>T	uc010dhp.2	-	56	9072	c.8947G>A	c.(8947-8949)Gtc>Atc	p.V2983I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.V2978I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGCCTTGACTTCCCACTAC	0.562000													3	27					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19511256	19511256	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:19511256A>G	uc001reb.3	+	20	2843	c.2735A>G	c.(2734-2736)cAt>cGt	p.H912R	PLEKHA5_uc010sie.2_Missense_Mutation_p.H1073R|PLEKHA5_uc001rea.3_Missense_Mutation_p.H970R|PLEKHA5_uc009zin.3_Missense_Mutation_p.H670R|PLEKHA5_uc010sig.2_Missense_Mutation_p.H894R|PLEKHA5_uc010sih.1_Missense_Mutation_p.H867R|PLEKHA5_uc021qvy.1_Missense_Mutation_p.H901R|PLEKHA5_uc001rec.1_Missense_Mutation_p.H721R|PLEKHA5_uc009zio.3_Missense_Mutation_p.H178R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	912							1-phosphatidylinositol binding|protein binding	p.H912R(3)|p.H1073R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAAGAAGACATCAACAAGCG	0.433000													4	36					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975947	16975947	+	RNA	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:16975947C>T	uc010och.2	+	10		c.1969C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AGAGCCAGGCCTACAGCGGGT	0.577000													4	36					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915904	72915904	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:72915904G>A	uc002jme.1	-	1	1210	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	USH1G_uc010wro.1_Missense_Mutation_p.R240W	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	343					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		p.R343W(2)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCGACCCCGCGGCGCTCCC	0.687000													4	84					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842075	227842075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:227842075C>T	uc021pjy.1	+	3	465	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	ZNF678_uc001hqw.2_Nonsense_Mutation_p.Q42*|ZNF678_uc009xet.2_Non-coding_Transcript|ZNF678_uc009xeu.2_Non-coding_Transcript	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	97					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Q42*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTTGCCAGAGCAGGATATGAA	0.333000													11	134					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34903824	34903824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr21:34903824C>A	uc002yrz.3	-	5	879	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	GART_uc002yrx.3_Nonsense_Mutation_p.E190*|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Nonsense_Mutation_p.E190*|GART_uc002ysa.2_Nonsense_Mutation_p.E190*	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	190	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	p.E190*(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGAAGTTCTTCAATGACAATT	0.353000													16	168					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42446634	42446634	+	Silent	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr15:42446634C>T	uc001zoz.3	-	2	299	c.207G>A	c.(205-207)gtG>gtA	p.V69V	PLA2G4F_uc001zpa.3_5'UTR|PLA2G4F_uc010bcr.3_5'UTR|PLA2G4F_uc010bcs.3_5'UTR	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	69	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.V69V(2)|p.Y68C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACAGTTGCACATAGCAGT	0.597000													5	32					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790443	118790443	+	Silent	SNP	T	T	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:118790443T>G	uc003pya.2	-	12	2122	c.2055A>C	c.(2053-2055)acA>acC	p.T685T	CEP85L_uc003pxz.2_Silent_p.T682T	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	682						centrosome		p.T682T(1)									ATAAAGAGCATGTCTCATCTG	0.413000													10	123					0	0	1	0	0
SNRNP27	11017	broad.mit.edu	37	2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:70130361C>T	uc002sfw.3	+	4	439	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SNRNP27_uc002sfv.3_Non-coding_Transcript	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA.	133					RNA splicing|mRNA processing	nucleus	nucleic acid binding	p.Q133*(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328000													10	117					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293246	94293246	+	Silent	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr7:94293246C>T	uc003uno.3	+	1	857	c.378C>T	c.(376-378)acC>acT	p.T126T	PEG10_uc011kie.2_Silent_p.T202T|PEG10_uc022ahn.1_Silent_p.T126T	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	126	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.T126T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGATGACCGGCCGTGCTG	0.532000													7	99					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6686950	6686950	+	Splice_Site	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6686950C>T	uc001qpo.3	-	37	5525	c.5361_splice	c.e37+1	p.K1787_splice	CHD4_uc001qpn.3_Splice_Site_p.K1780_splice|CHD4_uc001qpp.3_Splice_Site_p.K1812_splice|AK096395_uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1787	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463000													4	84					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132430	58132430	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:58132430C>T	uc002qpn.2	+	2	1042	c.943C>T	c.(943-945)Cct>Tct	p.P315S	ZNF134_uc002qpo.2_Missense_Mutation_p.P142S|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	315						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P315S(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGAGAAAATCCTTATGATTG	0.418000													4	104					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29694720	29694720	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:29694720G>A	uc003nno.4	+	6	1221	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	HLA-F_uc011dlx.1_Missense_Mutation_p.G366E|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.G366E(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTTCTCCTGGGGGTGCTCTTC	0.498000													11	132					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849889	54849889	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:54849889C>T	uc002qfj.3	-	2	190	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	45	Ig-like C2-type 1.					integral to membrane	receptor activity	p.V45M(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGATGGTCACGGGGTTATGC	0.537000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	98					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48533667	48533667	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:48533667T>C	uc001rrb.2	+	14	1650	c.1376T>C	c.(1375-1377)cTa>cCa	p.L459P	PFKM_uc001rra.2_Missense_Mutation_p.L73P|PFKM_uc001rrc.3_Missense_Mutation_p.L388P|PFKM_uc001rrd.3_Missense_Mutation_p.L73P|PFKM_uc001rre.2_Missense_Mutation_p.L388P|PFKM_uc021qxj.1_Missense_Mutation_p.L388P|PFKM_uc001rrg.2_Missense_Mutation_p.L357P	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	388					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	p.L388P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACAAGCTTCTAGCTCATGTC	0.512000													4	37					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709845	52709845	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:52709845G>T	uc001saf.2	-	6	1157	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	365	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity	p.A365D(4)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597000													6	47					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	648008	648008	+	Silent	SNP	G	G	A	rs142569661		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:648008G>A	uc003jbf.3	+	10	1827	c.1755G>A	c.(1753-1755)acG>acA	p.T585T		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	585					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.T585T(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGGAGCTCACGCAGATGCTGC	0.602000													5	39					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6696651	6696651	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6696651G>A	uc001qpo.3	-	24	3942	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	CHD4_uc001qpn.3_Missense_Mutation_p.R1253C|CHD4_uc001qpp.3_Missense_Mutation_p.R1257C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1260					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.R1260C(3)		central_nervous_system(2)	2						TCCTGGTTACGGTCTAGCAGC	0.458000													22	150					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79952234	79952234	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:79952234C>A	uc003kgz.3	+	1	495	c.242C>A	c.(241-243)aCa>aAa	p.T81K	DHFR_uc003kgy.1_5'Flank|DHFR_uc011ctl.2_5'Flank|DHFR_uc011ctm.2_5'Flank|DHFR_uc010jap.2_5'Flank	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	81	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding	p.T81K(1)|p.T72K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATATAGGCTACAGAAATTGAC	0.388000								Mismatch excision repair (MMR)					10	140					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746472	121746472	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:121746472G>T	uc001uag.3	-	16	2201	c.2079C>A	c.(2077-2079)aaC>aaA	p.N693K	ANAPC5_uc010szu.2_Missense_Mutation_p.N359K|ANAPC5_uc001uae.3_Missense_Mutation_p.N257K|ANAPC5_uc010szv.2_Missense_Mutation_p.N295K|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.N581K	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	693					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.N693K(3)|p.E692*(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCATTGAGGTTCTCGATGG	0.453000													7	103					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11943067	11943067	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:11943067C>T	uc010yjm.2	+	15	2121	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	LPIN1_uc010yjn.2_Missense_Mutation_p.R605C|LPIN1_uc002rbt.3_Missense_Mutation_p.R605C|LPIN1_uc010yjo.2_Missense_Mutation_p.R106C	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	605	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.R605C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGATGAGGAGCGCGCAGCTGC	0.498000													19	172					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139091593	139091593	+	Missense_Mutation	SNP	C	C	A	rs142521088		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr9:139091593C>A	uc004cgz.3	-	2	519	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	LHX3_uc022bpm.1_Missense_Mutation_p.R150L|LHX3_uc004cha.3_Missense_Mutation_p.D129Y	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	129	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D134Y(2)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TAGAACTCGTCGCCCGTGGCC	0.672000													9	38					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642884	1642884	+	Missense_Mutation	SNP	A	A	C	rs6578597	by1000genomes	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:1642884A>C	uc009ycy.1	-	2	422	c.335T>G	c.(334-336)tTc>tGc	p.F112C	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	207	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G112V(3)|p.F147C(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGAAGAGAAGCAGCAGGG	0.632000													7	170					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552898	100552898	+	Frame_Shift_Del	DEL	G	-	-			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr7:100552898delG	uc003uxl.1	+	1	2043	c.1243delG	c.(1243-1245)ggcfs	p.G415fs	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGACAATGGTGGCACCTGGGA	0.567													9	157	---	---	---	---					
KIAA0182	23199	broad.mit.edu	37	16	85701839	85701840	+	Frame_Shift_Ins	INS	-	T	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr16:85701839_85701840insT	uc002fix.3	+	13	3298_3299	c.3224_3225insT	c.(3223-3225)cctfs	p.P1075fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.P971fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.P1002fs|KIAA0182_uc002fiz.3_Frame_Shift_Ins_p.P217fs|KIAA0182_uc010cho.3_Frame_Shift_Ins_p.P255fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	1075							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						AGCCGCGCCCCTCCACCCCAGC	0.639													14	123	---	---	---	---					
THOC1	9984	broad.mit.edu	37	18	214519	214520	+	Splice_Site	INS	-	TTG	TTG	rs142588910		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr18:214519_214520insTTG	uc002kkj.4	-	21	2120	c.2080_splice	c.e21+1		THOC1_uc002kkh.4_Splice_Site	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.						RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTGTACAACAATTGTTATAAAA	0.351													7	9	---	---	---	---					
