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
KRTAP4-11	653240	broad.mit.edu	37	17	39274491	39274491	+	Missense_Mutation	SNP	C	C	T	rs113376601	by1000genomes	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39274491C>T	ENST00000391413.2	-	1	115	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	26	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGGCAGCAGGT	0.627000													7	80					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96628278	96628278	+	Missense_Mutation	SNP	G	G	C	rs148270321	by1000genomes	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:96628278G>C	ENST00000456556.1	-	7	901	c.817C>G	c.(817-819)Cca>Gca	p.P273A						ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCAAGGCTGGTTGTTTCTGA	0.313000													3	54					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79853107	79853107	+	Splice_Site	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:79853107A>C	ENST00000360280.3	+	18	2045	c.1785A>C	c.(1783-1785)gcA>gcC	p.A595A	VPS13A_ENST00000376636.3_Splice_Site_p.A595A|VPS13A_ENST00000376634.4_Splice_Site_p.A595A|VPS13A_ENST00000357409.5_Splice_Site_p.A595A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	595					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATGATGCAGTAAGCATTT	0.274000													6	224					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48204026	48204026	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:48204026C>T	ENST00000394747.1	-	27	4230	c.3881G>A	c.(3880-3882)cGc>cAc	p.R1294H	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1294H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTTGGAGTTGCGAAGCACAGC	0.577000													6	313					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982721	57982721	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:57982721G>A	ENST00000309433.6	+	1	505	c.505G>A	c.(505-507)Gct>Act	p.A169T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TAATATTATTGCTCTGACACA	0.478000													27	460					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44079702	44079702	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr22:44079702G>A	ENST00000262726.7	-	12	1429	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	EFCAB6_ENST00000396231.2_Silent_p.N240N|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGTGATGATGTTTTCCTTGT	0.348000													5	196					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:78429830C>A	ENST00000370767.1	-	12	1045	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348000			"""F, N"""		oligodendroglioma								15	149					0.000308642	0.000318287	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													6	91					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135922204	135922204	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:135922204A>G	ENST00000264158.8	+	23	2690	c.2647A>G	c.(2647-2649)Acc>Gcc	p.T883A	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	883						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGTGTTAGTCACCGGTGCAGG	0.512000													3	60					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12908353	12908353	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:12908353T>C	ENST00000338034.4	-	11	1175	c.936A>G	c.(934-936)ccA>ccG	p.P312P	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000426905.3_Silent_p.P272P|ELAC2_ENST00000395962.2_Silent_p.P293P	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	312					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGCTTTCATCTGGACATTCTA	0.512000													37	310					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40570895	40570895	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:40570895G>T	ENST00000342449.3	-	40	5525	c.5447C>A	c.(5446-5448)aCc>aAc	p.T1816N	BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000333229.2_Missense_Mutation_p.T1816N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T1816N(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAA	0.388000													20	309					1.00905e-13	1.09176e-13	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139399934	139399934	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:139399934A>G	ENST00000277541.6	-	25	4489	c.4414T>C	c.(4414-4416)Tgc>Cgc	p.C1472R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1472					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCCAGCCGCACGCGTGGTTG	0.642000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	75					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509063	49509063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr20:49509063G>A	ENST00000396029.3	-	5	2755	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	730						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCTAACTTTCGTTTTTTCAGT	0.443000													20	197					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423477	33423477	+	Silent	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:33423477A>C	ENST00000395064.2	+	2	868	c.600A>C	c.(598-600)ggA>ggC	p.G200G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GAGGGGAGGGAAGTGAACTGG	0.552000													51	111					0	0	1	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410673	32410673	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:32410673G>A	ENST00000382822.2	-	1	122	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	30						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						TGCGGAAGCTGCCATAGCCGC	0.537000													24	252					0	0	1	0	0
CIR1	9541	broad.mit.edu	37	2	175243709	175243709	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:175243709T>C	ENST00000342016.3	-	7	518	c.426A>G	c.(424-426)gaA>gaG	p.E142E	CIR1_ENST00000362053.5_Silent_p.E142E	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	142					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ACAAAGGACATTCTCGATCTG	0.403000													22	228					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208725913	208725913	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:208725913C>T	ENST00000427836.2	-	7	2513	c.2024G>A	c.(2023-2025)aGt>aAt	p.S675N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	675					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTACAAAGACTGCAGCTGTA	0.438000													95	168					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57832878	57832878	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:57832878C>A	ENST00000264230.4	-	5	2909	c.1672G>T	c.(1672-1674)Gtc>Ttc	p.V558F		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	558							GTP binding										GAAGCCACGACTGTAAACCAA	0.448000													7	160					0.000274275	0.000287336	1	1	0
HAP1	9001	broad.mit.edu	37	17	39884518	39884518	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39884518G>A	ENST00000393939.2	-	7	1144	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	HAP1_ENST00000310778.5_Missense_Mutation_p.R379W|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.R379W			P54257	HAP1_HUMAN	huntingtin-associated protein 1	379	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGCTGCTGCCGTTCATAGTTT	0.652000													4	111					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988634	134988634	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:134988634C>T	ENST00000535938.1	+	7	827	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SAGE1_ENST00000370709.3_Silent_p.N220N|SAGE1_ENST00000324447.3_Silent_p.N220N|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	220										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACCTGATAACGTGTTGTTGA	0.423000													150	513					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156757955	156757955	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:156757955G>A	ENST00000537611.2	-	8	1167	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	374						integral to membrane|plasma membrane											ACAAGAAACGGGGCAGCTAGA	0.358000													9	198					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21226219	21226219	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr18:21226219G>A	ENST00000592179.1	-	3	319	c.165C>T	c.(163-165)taC>taT	p.Y55Y	ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	55										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTGGCCAGCGTAGGCAGCAA	0.512000													13	86					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020910	46020910	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:46020910G>C	ENST00000380102.2	+	1	414	c.389G>C	c.(388-390)tGt>tCt	p.C130S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	130	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTGTGTACTGTGTGCCTGTC	0.632000													22	446					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269135	1269135	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:1269135G>A	ENST00000447027.1	+	31	11092	c.11034G>A	c.(11032-11034)ccG>ccA	p.P3678P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3675P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3675	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCACCCCGGCCACCAGCT	0.587000													26	342					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74943721	74943721	+	Splice_Site	SNP	A	A	G	rs5023505		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:74943721A>G	ENST00000262144.6	-	15	1614	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	495										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTTCCCACCACAAAGGACTC	0.498000													4	96					0	0	1	0	0
KRT17P2	339241	broad.mit.edu	37	17	18333079	18333079	+	RNA	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:18333079T>C	ENST00000326333.8	+	0	901																											CTGAGCCGCATCCTGAACGAG	0.592000													23	79					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713790	19713790	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:19713790C>T	ENST00000397821.3	-	5	750	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	154	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCTGACAGCTCCTTGATGAAG	0.512000													5	240					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179314136	179314136	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:179314136T>C	ENST00000367619.3	+	11	1185	c.1042T>C	c.(1042-1044)Ttg>Ctg	p.L348L	SOAT1_ENST00000539888.1_Silent_p.L283L|SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000535686.1_Silent_p.L84L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	348					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGTGCCCCCTTGTTTCGGAA	0.408000													16	311					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								47	93					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572000													27	63					0	0	1	0	0
SLC25A15	10166	broad.mit.edu	37	13	41379349	41379349	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:41379349T>C	ENST00000338625.4	+	4	646	c.410T>C	c.(409-411)aTg>aCg	p.M137T	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	137					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CTGCAGACCATGTATGAGATG	0.542000													12	93					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48265901	48265901	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:48265901C>T	ENST00000225964.5	-	43	3315	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1066	Triple-helical region.		R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGTCTCACCACGATCACCACT	0.652000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						24	57					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54259292	54259292	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:54259292C>T	ENST00000354646.2	-	21	5228	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1550					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGGCGGCTTCGAAGTTTGCT	0.418000													92	150					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097010	69097010	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:69097010C>T	ENST00000332644.5	-	7	758	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	199	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GCATGCTGGCCTGCCATGGCC	0.493000													13	96					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44079106	44079106	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:44079106G>A	ENST00000262887.5	-	2	647	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	XRCC1_ENST00000543982.1_Intron|L34079.4_ENST00000600242.1_RNA|L34079.2_ENST00000594374.1_Intron			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	34					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TTGGCTGCCCGCCATTTTCGG	0.552000								Other BER factors					3	51					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100185417	100185417	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:100185417C>T	ENST00000325103.6	-	13	1449	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	HPS1_ENST00000361490.4_Missense_Mutation_p.E406K|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	406					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTTCTTCTCCAGCATGGAG	0.667000									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154294528	154294528	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:154294528C>T	ENST00000484864.1	+	2	261	c.225C>T	c.(223-225)aaC>aaT	p.N75N	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000324978.3_Silent_p.N75N			Q96PS8	AQP10_HUMAN	aquaporin 10	75					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGGTAACGTCTCAGGTG	0.547000													18	31					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433964	72433964	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:72433964G>A	ENST00000373517.3	-	1	720	c.365C>T	c.(364-366)gCg>gTg	p.A122V	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	122					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAAATTGGCCGCTCTAGTTTG	0.373000													90	155					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108714431	108714431	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:108714431T>C	ENST00000361189.2	-	4	996	c.757A>G	c.(757-759)Agc>Ggc	p.S253G	PJA2_ENST00000361557.3_Missense_Mutation_p.S253G	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	253					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTTCCTGGCTATTCTGATGG	0.383000													87	139					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463299	25463299	+	Missense_Mutation	SNP	A	A	G	rs149043640		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:25463299A>G	ENST00000264709.3	-	19	2531	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	732					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)					TAGAACTCAAAGAAGAGCCGG	0.607000			"""Mis, F, N, S"""		AML								38	67					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241960	87241960	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:87241960T>C	ENST00000297524.3	-	1	650	c.547A>G	c.(547-549)Ata>Gta	p.I183V	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	183						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTCCCTCTTATCAGGAACACT	0.408000													12	221					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145738653	145738653	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:145738653C>T	ENST00000428558.2	-	15	2452	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	804	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACGCCCGGCCCGGCCCACGGC	0.716000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				18	27					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76881291	76881291	+	Splice_Site	SNP	G	G	T	rs142756436		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:76881291G>T	ENST00000261183.3	-	2	520	c.41C>A	c.(40-42)tCg>tAg	p.S14*	OSBPL8_ENST00000393249.2_5'UTR|OSBPL8_ENST00000393250.4_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	14					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACTACTCACCGAAGTTCGATC	0.353000													4	79					0.000602214	0.000611479	1	1	0
TDRD3	81550	broad.mit.edu	37	13	61083925	61083925	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:61083925C>T	ENST00000196169.3	+	9	1396	c.608C>T	c.(607-609)aCg>aTg	p.T203M	TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M|TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	203	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.T203fs*21(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCACATAACGGAAATGGGC	0.418000													16	315					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401968	10401968	+	Missense_Mutation	SNP	G	G	A	rs142884848	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:10401968G>A	ENST00000226207.5	-	30	4250	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1386						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCTGTGCGCTGGATGGCA	0.483000													117	145					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74290346	74290346	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:74290346C>A	ENST00000253577.3	-	10	1246	c.1222G>T	c.(1222-1224)Gtt>Ttt	p.V408F	ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F|ABCB7_ENST00000373394.3_Missense_Mutation_p.V407F|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	407	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AGATCTCCAACAGTAAGGGTA	0.358000													13	273					0.00185496	0.00185496	1	1	0
CHST8	64377	broad.mit.edu	37	19	34180275	34180275	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:34180275G>T	ENST00000262622.4	+	2	866	c.108G>T	c.(106-108)gaG>gaT	p.E36D	CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000438847.3_Missense_Mutation_p.E36D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCCTACGGAGCTCGCCCCCC	0.637000													8	121					1.26484e-09	1.34645e-09	1	1	0
PAX2	5076	broad.mit.edu	37	10	102509607	102509607	+	Missense_Mutation	SNP	C	C	T	rs76675173		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:102509607C>T	ENST00000370296.2	+	2	698	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PAX2_ENST00000361791.3_Missense_Mutation_p.R50W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Missense_Mutation_p.R50W			Q02962	PAX2_HUMAN	paired box 2	50	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGTGTGCGGCCCTGTGA	0.687000													4	109					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230393	91230393	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:91230393T>C	ENST00000509176.1	+	2	1246	c.958T>C	c.(958-960)Tct>Cct	p.S320P	CCSER1_ENST00000333691.8_Missense_Mutation_p.S320P|CCSER1_ENST00000432775.2_Missense_Mutation_p.S320P	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TGCAATTATGTCTCCTGGGAA	0.418000													6	155					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79988540	79988540	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:79988540T>C	ENST00000306688.3	+	17	2214	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	624						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGAACGCGTCTCTCCGGGAGA	0.701000													9	12					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791799	42791799	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:42791799A>C	ENST00000572681.2	+	6	3480	c.3412A>C	c.(3412-3414)Acc>Ccc	p.T1138P	CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000575354.2_Missense_Mutation_p.T229P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	229	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACAACCGGACCGTCAGCAA	0.617000			"""Mis, F, S"""		oligodendroglioma								45	18					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615263	55615263	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:55615263G>C	ENST00000326258.1	+	1	455	c.455G>C	c.(454-456)gGt>gCt	p.G152A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGGATGTCCGGTGTTCCTGTG	0.493000													6	173					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182636	140182636	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:140182636G>A	ENST00000522353.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGTGCGCGCATCCCGT	0.672000													88	91					0	0	1	0	0
SMG1P7	100506060	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:70253871A>G	ENST00000581050.1	-	0	1619					NR_033959.1																						GTAAAGCTTCACCGAAGAGTG	0.388000													3	36					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550875	4550875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:4550875G>A	ENST00000586582.1	-	11	1367	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	353	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTGCTCTCGGAAGCGGCCT	0.627000													7	145					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560040	33560040	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:33560040T>C	ENST00000228567.3	-	3	1057	c.761A>G	c.(760-762)aAa>aGa	p.K254R	SYT10_ENST00000535526.1_Missense_Mutation_p.K73R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	254	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCTAAAGCTTTGATAATTTT	0.378000													49	72					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141584	133141584	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:133141584G>A	ENST00000388996.4	-	15	2964	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	KCNQ3_ENST00000519445.1_Silent_p.S836S|KCNQ3_ENST00000521134.1_Silent_p.S728S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	848					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCATGGAGCCGCTGGGCGTGA	0.582000													4	99					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149924318	149924318	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:149924318A>G	ENST00000445323.2	+	15	1959	c.1838A>G	c.(1837-1839)aAt>aGt	p.N613S	MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000370390.3_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000538506.1_3'UTR			Q13613	MTMR1_HUMAN	myotubularin related protein 1	605						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTACGATGGAATCCACGGATG	0.343000													79	119					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27058039	27058040	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:27058039_27058040delCA	ENST00000324856.7	+	3	2118_2119	c.1747_1748delCA	c.(1747-1749)cagfs	p.Q583fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	583					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCAGCCCCAGTCTCAGCAG	0.609			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	231	---	---	---	---					
PODN	127435	broad.mit.edu	37	1	53535555	53535557	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:53535555_53535557delCTG	ENST00000371500.3	+	4	456_458	c.115_117delCTG	c.(115-117)ctgdel	p.L42del	PODN_ENST00000312553.5_In_Frame_Del_p.L61del|PODN_ENST00000395871.2_In_Frame_Del_p.L61del	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	13					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						gctgctgctcctgctgctgctgc	0.685													2	4	---	---	---	---					
ZNRF2P2	100271874	broad.mit.edu	37	7	29699825	29699826	+	RNA	DEL	TT	TT	-	rs142232912		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr7:29699825_29699826delTT	ENST00000426767.1	-	0	366					NR_024278.1																						ATTATTGACCTTTTTTTTTTCA	0.252													5	5	---	---	---	---					
LOC101927575	101927575	broad.mit.edu	37	9	86693417	86693417	+	RNA	DEL	A	A	-	rs34077830		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:86693417delA	ENST00000423515.2	+	0	823																											aataaaaaTTAAAAAAAAAAA	0.413													3	6	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													7	105	---	---	---	---					
DDX47	51202	broad.mit.edu	37	12	12982412	12982414	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:12982412_12982414delATG	ENST00000358007.3	+	12	1314_1316	c.1292_1294delATG	c.(1291-1296)aatgat>aat	p.D433del	DDX47_ENST00000352940.4_In_Frame_Del_p.D384del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	433						nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCTGGAGATAATGATGACACAGA	0.453													32	69	---	---	---	---					
ZNF268	10795	broad.mit.edu	37	12	133779622	133779622	+	Frame_Shift_Del	DEL	A	A	-	rs141481798	by1000genomes	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:133779622delA	ENST00000536435.2	+	6	1680	c.1350delA	c.(1348-1350)ggafs	p.G450fs	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.G289fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.G450fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGATTGTGGAAAAGCCTTTA	0.398													2	4	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33070000	33070026	+	RNA	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:33070000_33070026delAATGTGAACATACAAAAAACAAATCAG	ENST00000561541.1	-	0	291																											ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352													2	4	---	---	---	---					
