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
FAM171B	165215	broad.mit.edu	37	2	187627272	187627272	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:187627272A>T	uc002ups.3	+	7	2315	c.2203A>T	c.(2203-2205)Atc>Ttc	p.I735F	FAM171B_uc002upr.1_Missense_Mutation_p.I702F|FAM171B_uc002upt.3_Missense_Mutation_p.I204F	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	735						integral to membrane	DNA binding	p.I735F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCCAAGATCCTTTACTT	0.488000													25	63					0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44589279	44589279	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr21:44589279G>A	uc002zdd.1	+	0	139	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	24					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	p.D24N(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCGGCTGTTCGACCAGTTTTT	0.617000													32	117					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:47360202C>T	uc021qis.1	-	22	2232	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_uc021qir.1_Missense_Mutation_p.R378H|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R726H(3)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642000													10	26					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75478262	75478262	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:75478262C>T	uc002jts.4	+	3	884	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SEPT9_uc010wtk.2_Missense_Mutation_p.A234V|SEPT9_uc002jtt.4_Missense_Mutation_p.A89V|SEPT9_uc002jtu.4_Missense_Mutation_p.A235V|SEPT9_uc002jtv.3_Missense_Mutation_p.A246V|SEPT9_uc002jtw.3_Missense_Mutation_p.A89V|SEPT9_uc002jtx.1_Missense_Mutation_p.A89V|SEPT9_uc010wtl.2_Missense_Mutation_p.A29V|SEPT9_uc002jty.4_Missense_Mutation_p.A2V|SEPT9_uc010wtm.2_Missense_Mutation_p.A2V|SEPT9_uc010wtn.2_Missense_Mutation_p.A2V|SEPT9_uc010dhd.3_Missense_Mutation_p.A141V	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	253					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.A235V(2)|p.A141V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGCGACATGGCCGACACCCCC	0.652000													3	13					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794557	37794557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37794557C>T	uc011lbj.1	-	4	638	c.538G>A	c.(538-540)Gtc>Atc	p.V180I		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	180					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.V180I(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATCACAAGGACACAGCCATGT	0.557000													6	80					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													5	46					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193088	132193088	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:132193088T>C	uc003vra.4	-	1	594	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	PLXNA4_uc003vrc.2_Missense_Mutation_p.Y122C|PLXNA4_uc003vrb.3_Missense_Mutation_p.Y122C	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	122	Sema.					integral to membrane|intracellular|plasma membrane		p.Y122C(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTCCTTGTAGTCTATGAG	0.552000													4	95					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769548	57769548	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr20:57769548G>A	uc002yan.3	+	0	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1158						intracellular	nucleic acid binding|zinc ion binding	p.T1158T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672000													30	78					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921277	12921277	+	Missense_Mutation	SNP	A	A	T	rs3204826	byFrequency	TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:12921277A>T	uc001aum.1	+	3	1155	c.1068A>T	c.(1066-1068)ttA>ttT	p.L356F		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	356								p.L356F(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCGTGTTAGAGGGCTGTC	0.542000													6	92					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59984779	59984779	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:59984779C>A	uc002izn.3	-	7	1271	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	INTS2_uc002izm.3_Missense_Mutation_p.A391S	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	399					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.A399S(3)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTGAGTCCAGCGATCCCCATC	0.413000													2	6					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921385	12921385	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:12921385C>T	uc001aum.1	+	3	1263	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	392								p.D392D(2)|p.D392G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTATTGACGCCCTGAAGG	0.557000													12	58					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr10:26880266G>A	uc001ist.3	+	1		c.501G>A								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		ACCAAGCCCAGTGGACAGATG	0.443000													5	30					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:3427759C>T	uc010qxs.1	+	8		c.752C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		TGTCTGCACACGTCCTGCAGT	0.612000													3	46					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82185669	82185669	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr10:82185669C>T	uc021pux.1	+	3	448	c.318C>T	c.(316-318)ggC>ggT	p.G106G	FAM213A_uc001kcc.4_Silent_p.G106G|FAM213A_uc001kcd.4_Silent_p.G95G|FAM213A_uc001kcf.4_Silent_p.G106G|FAM213A_uc001kce.4_Silent_p.G106G|FAM213A_uc021puy.1_Silent_p.G102G	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	106						extracellular region		p.G106G(1)									ACCAGCTGGGCGTCCCCCTCT	0.522000													36	87					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067560	46067560	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:46067560G>T	uc003gxb.3	-	3	515	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	121					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D121E(2)|p.D121D(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTAAACGACTGTCAAACCAGG	0.294000													14	62					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88568465	88568465	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:88568465T>C	uc001tau.3	+	8	1501	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	427						integral to membrane	binding	p.D427D(2)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAATTGGGATTGGGAGTCTG	0.343000													9	201					0	0	1	0	0
PROSC	11212	broad.mit.edu	37	8	37623076	37623076	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37623076G>A	uc003xkh.3	+	1	209	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	44							pyridoxal phosphate binding	p.A44A(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GGCTAGTGGCGGTCAGCAAAA	0.532000													14	268					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415650	19415650	+	RNA	SNP	C	C	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr13:19415650C>A	uc010tcj.1	-	0		c.30460G>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaacccaaacaaaacaaaaC	0.413000													7	37					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107575964	107575964	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:107575964C>T	uc003vev.2	-	24	4317	c.4156G>A	c.(4156-4158)Gag>Aag	p.E1386K	LAMB1_uc003vew.2_Missense_Mutation_p.E1362K	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1362	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.E1362K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTCTCGCTCCATCATCACG	0.542000													145	302					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654892	160654892	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:160654892G>T	uc001fwo.1	-	1	202	c.170C>A	c.(169-171)aCc>aAc	p.T57N	CD48_uc001fwn.3_Missense_Mutation_p.T57N|CD48_uc001fwp.3_Missense_Mutation_p.T57N	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	57	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	p.T57N(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAAACCAGGTTAGTTGTTT	0.438000													4	112					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012981	99012981	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:99012981A>G	uc010fij.3	+	7	1501	c.1360A>G	c.(1360-1362)Acg>Gcg	p.T454A	CNGA3_uc002syt.3_Missense_Mutation_p.T450A|CNGA3_uc002syu.3_Missense_Mutation_p.T432A			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	450					signal transduction|visual perception	integral to membrane	cGMP binding	p.T450A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAACAAGAAGACGGTGGATGA	0.537000													17	37					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33400492	33400492	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr3:33400492C>T	uc003cfp.3	+	2	170	c.99C>T	c.(97-99)tgC>tgT	p.C33C	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Intron|FBXL2_uc021wuy.1_Silent_p.C33C|FBXL2_uc011axo.2_5'UTR|FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	33	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	p.C33C(3)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TAACTTTGTGCCGATGTGCAC	0.289000													3	53					0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915187	119915187	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:119915187C>G	uc002tlo.2	-	0	1285	c.659G>C	c.(658-660)tGg>tCg	p.W220S		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	220	C1q.					collagen		p.W220S(2)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAGGTCCGCCCACATGCTGGT	0.647000										HNSCC(49;0.14)			6	37					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:47696425A>C	uc002ipg.3	-	4	695	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_uc010dbk.3_Missense_Mutation_p.F133C|SPOP_uc002ipb.3_Missense_Mutation_p.F133C|SPOP_uc002ipc.3_Missense_Mutation_p.F133C|SPOP_uc002ipd.3_Missense_Mutation_p.F133C|SPOP_uc002ipe.3_Missense_Mutation_p.F133C|SPOP_uc002ipf.3_Missense_Mutation_p.F133C	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)|p.F133C(6)|p.F133S(4)|p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448000										Prostate(2;0.17)			59	155					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:3427765G>C	uc010qxs.1	+	8		c.758G>C			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CACACGTCCTGCAGTGGCCTG	0.602000													3	47					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005375	74005375	+	Silent	SNP	T	T	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:74005375T>G	uc003hgp.3	-	14	3075	c.2958A>C	c.(2956-2958)ggA>ggC	p.G986G	ANKRD17_uc003hgo.3_Silent_p.G873G|ANKRD17_uc003hgq.3_Intron|ANKRD17_uc003hgr.3_Silent_p.G986G|ANKRD17_uc011cbd.1_Silent_p.G551G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	986	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.G986G(3)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTGGCTGTCCAACTATCA	0.562000													5	32					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312310	31312310	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:31312310G>C	uc001msv.3	-	6	1082	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	282					intracellular signal transduction			p.L282V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTAATAGAAAGAACAGGCTTG	0.393000													37	91					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875581	189875581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:189875581A>T	uc002uqj.1	+	49	4336	c.4219A>T	c.(4219-4221)Aaa>Taa	p.K1407*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1407	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.K1407*(2)|p.K1407R(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAAATAGCAAATTCACCTA	0.398000													5	115					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75669946	75669946	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:75669946C>A	uc002feq.3	-	4	581	c.533G>T	c.(532-534)cGg>cTg	p.R178L	KARS_uc002fer.3_Missense_Mutation_p.R206L|KARS_uc010cgz.3_Missense_Mutation_p.R22L	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	178					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	p.R178L(2)|p.R178W(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TATGTCTCCCCGACGCAGTTT	0.373000													3	62					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128050211	128050211	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:128050211G>A	uc002toh.1	-	2	541	c.446C>T	c.(445-447)cCt>cTt	p.P149L	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Missense_Mutation_p.P85L|ERCC3_uc002tog.1_Missense_Mutation_p.P85L|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_Silent_p.L102L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	149					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	p.P149L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AATTCCATCAGGGACTCCAGT	0.483000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	117					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr13:41705440G>T	uc001uxu.1	-	0	1497	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	403							protein binding	p.T403K(14)|p.T403T(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507000													5	166					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821682	129821682	+	RNA	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr3:129821682G>T	uc003ene.2	-	1		c.234C>A			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		GGAGCCCGCTGGTGCTCCCAG	0.642000													4	37					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100693835	100693835	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:100693835T>C	uc003uxp.1	+	6	12846	c.12793T>C	c.(12793-12795)Ttg>Ctg	p.L4265L	MUC17_uc010lho.1_Intron	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4265	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L4265L(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGACAGTATTGGACAATGC	0.463000													8	90					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100152323	100152323	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:100152323C>T	uc001dsg.3	+	3	786	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	115					regulation of cell shape	cytoplasm|membrane		p.R115W(4)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTCAATTGAGCGGACAACAGA	0.333000													25	99					0	0	1	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861558	27861558	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr6:27861558G>A	uc003nkc.1	+	0	356	c.318G>A	c.(316-318)gaG>gaA	p.E106E	HIST1H3J_uc003nka.3_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	Homo sapiens histone cluster 1, H2bo (HIST1H2BO), mRNA.	106					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E106E(1)									TGCCCGGGGAGCTGGCCAAGC	0.637000													5	64					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153881743	153881743	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:153881743C>T	uc003inf.2	+	3	765	c.690C>T	c.(688-690)ggC>ggT	p.G230G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	230	FH2.				actin cytoskeleton organization		actin binding	p.G230G(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373000													19	126					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44938412	44938412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrX:44938412A>G	uc011mkz.2	+	20	3491	c.3116A>G	c.(3115-3117)aAa>aGa	p.K1039R	KDM6A_uc010nhk.2_Missense_Mutation_p.K953R|KDM6A_uc004dge.4_Missense_Mutation_p.K987R|KDM6A_uc011mla.2_Missense_Mutation_p.K942R|KDM6A_uc011mlb.2_Missense_Mutation_p.K994R|KDM6A_uc011mlc.2_Missense_Mutation_p.K691R|KDM6A_uc022bvj.1_Missense_Mutation_p.K908R|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.K626R	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	987					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.K987R(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTCTACTAAAACTTTGGTG	0.333000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								4	59					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64116832	64116832	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:64116832G>T	uc001nzy.3	+	14	2695	c.2646G>T	c.(2644-2646)aaG>aaT	p.K882N	CCDC88B_uc009ypo.2_Missense_Mutation_p.K879N|CCDC88B_uc001nzz.1_Missense_Mutation_p.K531N|CCDC88B_uc001oaa.3_Missense_Mutation_p.K34N	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	882					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.K882N(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCGGGGCAAGGAGTTGGGGG	0.627000													3	18					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10104082	10104082	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr19:10104082C>T	uc002mmq.1	-	18	1809	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	575	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G575S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGGGGACCGGGTTGCCCC	0.567000													6	256					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:148683686delA	uc002twg.3	+	10	1572	c.1303delA	c.(1303-1305)aaafs	p.K435fs	ACVR2A_uc010zbn.2_Frame_Shift_Del_p.K327fs|ACVR2A_uc002twh.3_Frame_Shift_Del_p.K435fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	435	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368													7	162	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179506008	179506008	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:179506008delT	uc021vsy.1	-	168	33114	c.32889delA	c.(32887-32889)aaafs	p.K10963fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.K4658fs|TTN_uc021vta.1_Frame_Shift_Del_p.K4591fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K4466fs|TTN_uc010fre.1_Frame_Shift_Del_p.K841fs|TTN_uc002umw.1_Intron|TTN_uc002umx.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11890	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTTCTACTTTAGGTTCTT	0.289													2	4	---	---	---	---					
LARP4	113251	broad.mit.edu	37	12	50847266	50847267	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:50847266_50847267insT	uc001rwp.2	+	8	1030_1031	c.828_829insT	c.(826-831)acatttfs	p.T276fs	LARP4_uc001rwq.2_Intron|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Frame_Shift_Ins_p.T275fs|LARP4_uc001rwr.2_Frame_Shift_Ins_p.T276fs|LARP4_uc021qxv.1_Frame_Shift_Ins_p.T206fs|LARP4_uc009zlr.1_Frame_Shift_Ins_p.T95fs|LARP4_uc001rwm.3_Frame_Shift_Ins_p.T276fs|LARP4_uc001rwn.3_Frame_Shift_Ins_p.T206fs	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	276	RRM.						RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCATCAATACATTTTTTGCTAA	0.322													7	170	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													10	78	---	---	---	---					
