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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
CSTF2T	23283	broad.mit.edu	37	10	53457704	53457733	+	In_Frame_Del	DEL	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-	rs150681820		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-	-	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:53457704_53457733delCTCCTTGTATGCCTGCCCCCTGCATCCCTC	ENST00000331173.4	-	1	1622_1651	c.1577_1606delGAGGGATGCAGGGGGCAGGCATACAAGGAG	c.(1576-1608)ggagggatgcagggggcaggcatacaaggagtc>gtc	p.GGMQGAGIQG526del	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	526	9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding	p.G532D(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		tgtatactgactccttgtatgcctgccccctgcatccctcctccttgtat	0.561		NA											False	1	True	10:53457704	0
SPTY2D1	144108	broad.mit.edu	37	11	18633969	18633971	+	In_Frame_Del	DEL	TCG	TCG	-	rs11605097	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:18633969_18633971delTCG	ENST00000336349.5	-	4	2011_2013	c.1776_1778delCGA	c.(1774-1779)gacgat>gat	p.592_593DD>D		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	592	Poly-Asp.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCATCATCATCGTCATCTTCCT	0.365		NA											False	1	True	11:18633969	0
OR5D18	219438	broad.mit.edu	37	11	55587770	55587772	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TTG	TTG	-	-	TTG	TTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:55587770_55587772delTTG	ENST00000333976.4	+	1	685_687	c.665_667delTTG	c.(664-669)attgtt>att	p.V224del		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATGCGTTCATTGTTGTAACCAT	0.483		NA											False	2	False	11:55587770	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
NBPF16	728936	broad.mit.edu	37	1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16	NA										breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493		NA											False	2	False	1:148753330	0
HERC2P2	0	broad.mit.edu	37	15	23311793	23311794	+	RNA	INS	-	-	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:23311793_23311794insA	ENST00000560464.1	-	0	3310_3311										NA											NA						GTGGGTGGCAGTCAGCGAGGCC	0.634		NA											False	0	False	15:23311793	0
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
SLC38A10	124565	broad.mit.edu	37	17	79219501	79219503	+	In_Frame_Del	DEL	ATG	ATG	-	rs10569617		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:79219501_79219503delATG	ENST00000374759.3	-	16	3596_3598	c.3213_3215delCAT	c.(3211-3216)atcatt>att	p.1071_1072II>I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235).	amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTAAGGCCAATGATGACCCCAT	0.685		NA											False	2	False	17:79219501	0
ANKRD12	23253	broad.mit.edu	37	18	9263840	9263850	+	Frame_Shift_Del	DEL	AGGAAGTTGTA	AGGAAGTTGTA	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	AGGAAGTTGTA	AGGAAGTTGTA	-	-	AGGAAGTTGTA	AGGAAGTTGTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:9263840_9263850delAGGAAGTTGTA	ENST00000383440.2	+	9	5905_5915	c.5648_5658delAGGAAGTTGTA	c.(5647-5658)caggaagttgtafs	p.QEVV1883fs	ANKRD12_ENST00000262126.3_Frame_Shift_Del_p.QEVV1906fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.QEVV1883fs	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1906						nucleus		p.V1908A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTTCGACAACAGGAAGTTGTAAGGATGAAAC	0.284		NA											False	1	False	18:9263840	0
SLC14A2	8170	broad.mit.edu	37	18	43221254	43221267	+	Frame_Shift_Del	DEL	GGAGGCATGTTCTA	GGAGGCATGTTCTA	-	rs143740023		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GGAGGCATGTTCTA	GGAGGCATGTTCTA	-	-	GGAGGCATGTTCTA	GGAGGCATGTTCTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:43221254_43221267delGGAGGCATGTTCTA	ENST00000255226.6	+	8	1888_1901	c.1072_1085delGGAGGCATGTTCTA	c.(1072-1086)ggaggcatgttctatfs	p.GGMFY358fs	SLC14A2_ENST00000586448.1_Frame_Shift_Del_p.GGMFY358fs	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	358						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCGCCATCGGAGGCATGTTCTATGCCCTCACC	0.551		NA											False	1	False	18:43221254	0
TMEM91	641649	broad.mit.edu	37	19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000356385.4_Intron|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000392002.2_Intron					transmembrane protein 91	NA										lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531		NA											False	1	False	19:41888851	0
ZNF880	400713	broad.mit.edu	37	19	52888074	52888075	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:52888074_52888075insAT	ENST00000422689.2	+	4	1256_1257	c.1241_1242insAT	c.(1240-1245)ggcaaafs	p.K415fs		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	415					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATGAATGTGGCAAAGCATTTA	0.411		NA											False	0	True	19:52888074	0
ZNF880	400713	broad.mit.edu	37	19	52888076	52888077	+	In_Frame_Ins	INS	-	-	TGAGGTCAGGAGATCGAGACCATCCTGGCT			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:52888076_52888077insTGAGGTCAGGAGATCGAGACCATCCTGGCT	ENST00000422689.2	+	4	1258_1259	c.1243_1244insTGAGGTCAGGAGATCGAGACCATCCTGGCT	c.(1243-1245)aaa>aTGAGGTCAGGAGATCGAGACCATCCTGGCTaa	p.415_415K>MRSGDRDHPG*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	415					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGAATGTGGCAAAGCATTTAGA	0.411		NA											False	0	True	19:52888076	0
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557		NA											False	1	False	X:50350672	0
HUWE1	10075	broad.mit.edu	37	X	53634624	53634625	+	Frame_Shift_Ins	INS	-	-	ATATA			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:53634624_53634625insATATA	ENST00000342160.3	-	24	2812_2813	c.2355_2356insTATAT	c.(2353-2358)acaacafs	p.T786fs	HUWE1_ENST00000218328.8_Frame_Shift_Ins_p.T786fs|HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T786fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	786					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTCATCTGTTGTATTGTTGC	0.411		NA											False	0	False	X:53634624	0
HUWE1	10075	broad.mit.edu	37	X	53634626	53634627	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:53634626_53634627insTTTT	ENST00000342160.3	-	24	2810_2811	c.2353_2354insAAAA	c.(2353-2355)acafs	p.T785fs	HUWE1_ENST00000218328.8_Frame_Shift_Ins_p.T785fs|HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T785fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	785					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCATCTGTTGTATTGTTGCTC	0.401		NA											False	1	False	X:53634626	0
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TGCTGCG	TGCTGCG	-	-	TGCTGCG	TGCTGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527		NA											False	1	False	1:248616705	0
AAK1	22848	broad.mit.edu	37	2	69741760	69741765	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-	rs77547121		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TGTTGC	TGTTGC	-	-	TGTTGC	TGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:69741760_69741765delTGTTGC	ENST00000409085.4	-	13	1990_1995	c.1614_1619delGCAACA	c.(1612-1620)cagcaacaa>caa	p.538_540QQQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgttgttgctgctgctgct	0.544		NA											False	1	True	2:69741760	0
WDR33	55339	broad.mit.edu	37	2	128477233	128477234	+	Frame_Shift_Ins	INS	-	-	AGAT			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:128477233_128477234insAGAT	ENST00000322313.4	-	16	2523_2524	c.2365_2366insATCT	c.(2365-2367)ggcfs	p.G789fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	789					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCCGGGGGCCTGGAGGCCCC	0.604		NA											False	0	False	2:128477233	0
PPIG	9360	broad.mit.edu	37	2	170493042	170493043	+	Frame_Shift_Ins	INS	-	-	TTGGGGAAATGTT			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:170493042_170493043insTTGGGGAAATGTT	ENST00000260970.3	+	14	1494_1495	c.1274_1275insTTGGGGAAATGTT	c.(1273-1278)aaagttfs	p.KV425fs	PPIG_ENST00000409714.3_Frame_Shift_Ins_p.KV410fs|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Frame_Shift_Ins_p.KV425fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	425					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGGAGAAGAAAGTTAAAGACC	0.322		NA											False	0	True	2:170493042	0
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483		NA											False	1	True	2:233708804	0
FOXL2	668	broad.mit.edu	37	3	138665464	138665540	+	Frame_Shift_Del	DEL	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	-	rs111967494		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	-	-	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:138665464_138665540delGGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	ENST00000330315.3	-	1	442_518	c.25_101delGAGGACGCGGCGGGGGCCCTGCTGGCCCCAGAGACCGGTCGCACAGTCAAGGAGCCAGAAGGGCCGCCGCCGAGCCC	c.(25-102)gaggacgcggcgggggccctgctggccccagagaccggtcgcacagtcaaggagccagaagggccgccgccgagcccafs	p.EDAAGALLAPETGRTVKEPEGPPPSP9fs		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	9					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GCCCTTGCCTGGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTCGGGCTCGGGG	0.747		NA	Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						False	1	False	3:138665464	0
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304		NA											False	1	True	5:115202418	0
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65		NA											False	2	False	6:159655079	0
DTX2P1-UPK3BP1-PMS2P11	0	broad.mit.edu	37	7	76652971	76652972	+	RNA	INS	-	-	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:76652971_76652972insA	ENST00000584900.1	+	0	1529_1530					NR_023383.1					NA											NA						TCACTGTATTCAGCTCCATCAA	0.48		NA											False	1	False	7:76652971	0
MYOM2	9172	broad.mit.edu	37	8	2000419	2000433	+	Splice_Site	DEL	AGAACAGAAGCAGGT	AGAACAGAAGCAGGT	-	rs35022521	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	AGAACAGAAGCAGGT	AGAACAGAAGCAGGT	-	-	AGAACAGAAGCAGGT	AGAACAGAAGCAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:2000419_2000433delAGAACAGAAGCAGGT	ENST00000262113.4	+	3	392_404	c.251_263delAGAACAGAAGCAGGT	c.(250-264)gagaacagaagcagg>gg	p.ENRSR84del	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	84					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGAGCAGGAGAACAGAAGCAGGTGAGCACATGG	0.605		NA											False	1	False	8:2000419	0
LZTS1	11178	broad.mit.edu	37	8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	rs148039718	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657		NA											False	1	True	8:20107683	0
MAMDC4	158056	broad.mit.edu	37	9	139748277	139748296	+	Frame_Shift_Del	DEL	CCCTGTGGCAGAGCACAGGG	CCCTGTGGCAGAGCACAGGG	-	rs143877651	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	CCCTGTGGCAGAGCACAGGG	CCCTGTGGCAGAGCACAGGG	-	-	CCCTGTGGCAGAGCACAGGG	CCCTGTGGCAGAGCACAGGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:139748277_139748296delCCCTGTGGCAGAGCACAGGG	ENST00000317446.2	+	5	553_572	c.503_522delCCCTGTGGCAGAGCACAGGG	c.(502-522)accctgtggcagagcacagggfs	p.TLWQSTG168fs	MAMDC4_ENST00000445819.1_Frame_Shift_Del_p.TLWQSTG168fs|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2	Q6UXC1	AEGP_HUMAN	MAM domain containing 4	168	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GAGACCCTGACCCTGTGGCAGAGCACAGGGCCCTGGGGCC	0.677		NA											False	1	False	9:139748277	0
TMPRSS3	64699	broad.mit.edu	37	21	43796648	43796648	+	Splice_Site	SNP	A	A	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:43796648A>T	ENST00000291532.3	-	11	2150		c.e11+1		TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	NA					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCGGCCCCGTACCTGGCAGCT	0.622		NA									OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	False	0	False	21:43796648	0
TUB	7275	broad.mit.edu	37	11	8123100	8123100	+	Silent	SNP	G	G	A	rs147880022	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:8123100G>A	ENST00000305253.4	+	13	1861	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	TUB_ENST00000534099.1_Silent_p.P491P|TUB_ENST00000299506.2_Silent_p.P485P	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	485					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACAACTACCCGCTGTGTGCAC	0.582		NA											False	0	True	11:8123100	0
HLA-DMA	3108	broad.mit.edu	37	6	32917503	32917503	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:32917503G>A	ENST00000374843.4	-	3	622	c.537C>T	c.(535-537)gtC>gtT	p.V179V	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Silent_p.V84V|HLA-DMA_ENST00000395303.3_Silent_p.V145V|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	179						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						TGAGTCCATCGACAGCTGAGA	0.473		NA											False	0	False	6:32917503	0
NALCN	259232	broad.mit.edu	37	13	101755619	101755619	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:101755619G>A	ENST00000251127.6	-	26	3042	c.2961C>T	c.(2959-2961)gtC>gtT	p.V987V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	987						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACCGAAGGACCATTAGAA	0.443		NA											False	0	False	13:101755619	0
DYX1C1	161582	broad.mit.edu	37	15	55731755	55731755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:55731755G>A	ENST00000321149.3	-	7	1175	c.808C>T	c.(808-810)Cga>Tga	p.R270*	DYX1C1_ENST00000380679.1_Nonsense_Mutation_p.R270*|DYX1C1_ENST00000448430.2_Nonsense_Mutation_p.R270*|DYX1C1_ENST00000348518.3_Nonsense_Mutation_p.R270*|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Nonsense_Mutation_p.R270*	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	270					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATTGCTCTTCGTGCCTCAGCT	0.333		NA											False	0	False	15:55731755	0
FGB	2244	broad.mit.edu	37	4	155487741	155487741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:155487741C>A	ENST00000302068.4	+	3	470	c.407C>A	c.(406-408)gCt>gAt	p.A136D	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	136					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AATGTGGAAGCTGTTTCCCAG	0.433		NA											False	0	False	4:155487741	0
ZNF749	388567	broad.mit.edu	37	19	57955950	57955950	+	Silent	SNP	T	T	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:57955950T>C	ENST00000334181.4	+	3	1684	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGATTGACATTAGGCCAAGGC	0.458		NA											False	0	False	19:57955950	0
HERC6	55008	broad.mit.edu	37	4	89349856	89349856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:89349856G>A	ENST00000380265.5	+	15	2135	c.1952G>A	c.(1951-1953)cGt>cAt	p.R651H	HERC6_ENST00000264346.7_Missense_Mutation_p.R687H	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	687					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GATGCTCTGCGTCAATTAAGT	0.388		NA											False	0	False	4:89349856	0
FEM1A	55527	broad.mit.edu	37	19	4793864	4793864	+	Silent	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:4793864C>A	ENST00000269856.3	+	1	2137	c.1998C>A	c.(1996-1998)atC>atA	p.I666I	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	666					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCGTTCATCGAACTGCACT	0.592		NA											False	0	False	19:4793864	0
AKAP3	10566	broad.mit.edu	37	12	4737445	4737445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:4737445C>A	ENST00000545990.2	-	5	1147	c.623G>T	c.(622-624)aGt>aTt	p.S208I	AKAP3_ENST00000228850.1_Missense_Mutation_p.S208I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	208					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATTTGGGGGACTTTGTGATGA	0.488		NA											False	0	True	12:4737445	0
PTGS1	5742	broad.mit.edu	37	9	125148756	125148756	+	Silent	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:125148756C>T	ENST00000362012.2	+	9	1046	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Silent_p.Y238Y|PTGS1_ENST00000540753.1_Silent_p.Y322Y|PTGS1_ENST00000223423.4_Silent_p.Y347Y	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	347					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TCGAGGAGTACGTGCAGCAGC	0.527		NA											False	0	False	9:125148756	0
CYB5RL	606495	broad.mit.edu	37	1	54640404	54640404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:54640404C>T	ENST00000419823.2	-	7	1060	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	CYB5RL_ENST00000534324.1_Missense_Mutation_p.C279Y|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Missense_Mutation_p.C211Y|CYB5RL_ENST00000401046.3_Missense_Mutation_p.C131Y|CYB5RL_ENST00000537208.1_Missense_Mutation_p.C211Y|CYB5RL_ENST00000542737.1_Missense_Mutation_p.C279Y	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	279							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCTCCGACAGCAGCTGACCAG	0.552		NA											False	0	False	1:54640404	0
SPATA31D5P	0	broad.mit.edu	37	9	84533928	84533928	+	RNA	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:84533928G>A	ENST00000527857.1	+	0	3950					NR_026851.1					NA											NA						TTCACCAGCTGCAAAGAGAGT	0.532		NA											False	0	False	9:84533928	0
RPTOR	57521	broad.mit.edu	37	17	78914377	78914377	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:78914377C>A	ENST00000306801.3	+	25	3363	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CTD-2561B21.4_ENST00000576032.1_RNA|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.Q843K	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1001					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGTCAGGAGGCAGGCCCAGCA	0.632		NA											False	0	True	17:78914377	0
CCDC180	100499483	broad.mit.edu	37	9	100053719	100053719	+	Silent	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:100053719C>A	ENST00000357054.1	+	12	971	c.36C>A	c.(34-36)acC>acA	p.T12T	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375205.2_Silent_p.T12T|CCDC180_ENST00000411667.2_5'UTR|CCDC180_ENST00000375202.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000395220.1_Silent_p.T12T					coiled-coil domain containing 180	NA											NA						CTGGTGCTACCCATCGTCCAA	0.537		NA											False	0	True	9:100053719	0
ROR2	4920	broad.mit.edu	37	9	94486741	94486741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:94486741C>T	ENST00000375708.3	-	9	2233	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G539S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	679	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGACCACACCGTAGGACCAG	0.607		NA											False	0	False	9:94486741	0
PINK1	65018	broad.mit.edu	37	1	20975596	20975596	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:20975596T>G	ENST00000321556.4	+	7	1454	c.1360T>G	c.(1360-1362)Tac>Gac	p.Y454D	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	454	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATCCCTTCTACGGCCAGGG	0.607		NA											False	0	False	1:20975596	0
IGHV2-26	0	broad.mit.edu	37	14	106757880	106757880	+	RNA	SNP	C	C	T	rs146488407	by1000genomes	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:106757880C>T	ENST00000390611.2	-	0	150										NA											NA						AACCCAGAGACGGTGCAGGTC	0.552		NA											False	0	False	14:106757880	0
SLC35F3	148641	broad.mit.edu	37	1	234454518	234454518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:234454518G>A	ENST00000366618.3	+	6	1121	c.976G>A	c.(976-978)Ggc>Agc	p.G326S	SLC35F3_ENST00000366617.3_Missense_Mutation_p.G257S	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	257					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCTCCTCCTGGGCAGTGCTAA	0.468		NA											False	0	True	1:234454518	0
C2orf71	388939	broad.mit.edu	37	2	29295748	29295748	+	Silent	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:29295748C>T	ENST00000331664.5	-	1	1379	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	460					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGACCCCAATCCCAAAGGAAT	0.557		NA											False	0	True	2:29295748	0
FOXP2	93986	broad.mit.edu	37	7	114298280	114298280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:114298280C>T	ENST00000408937.3	+	12	1875	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R493*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R455*|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R384*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.R476*|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R476*	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	476					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GGGAGCCATACGAAGGCGACA	0.507		NA											False	0	False	7:114298280	0
LRRC3	81543	broad.mit.edu	37	21	45877295	45877295	+	Silent	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:45877295G>T	ENST00000291592.4	+	2	1085	c.768G>T	c.(766-768)ggG>ggT	p.G256G		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	256						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637		NA											False	0	True	21:45877295	0
NIPBL	25836	broad.mit.edu	37	5	37044451	37044451	+	Silent	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:37044451G>T	ENST00000282516.8	+	35	6610	c.6111G>T	c.(6109-6111)acG>acT	p.T2037T	NIPBL_ENST00000448238.2_Silent_p.T2037T	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2037					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTTATAGACGCAAAATGATT	0.358		NA											False	0	False	5:37044451	0
AC011484.1	0	broad.mit.edu	37	19	46998201	46998201	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:46998201G>C	ENST00000377652.3	+	1	437	c.312G>C	c.(310-312)tgG>tgC	p.W104C	PNMAL2_ENST00000377655.2_Silent_p.T174T|PNMAL2_ENST00000599531.1_Silent_p.T174T|PNMAL2_ENST00000594749.1_Intron						NA											NA						TGCCCTTCTGGGTCAACCTGT	0.647		NA											False	0	True	19:46998201	0
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:38591931C>G	ENST00000413689.1	-	28	6125	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602		NA											False	0	False	3:38591931	0
CLEC4A	50856	broad.mit.edu	37	12	8276535	8276535	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:8276535A>G	ENST00000229332.5	+	1	308	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	CLEC4A_ENST00000360500.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000345999.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000352620.3_Missense_Mutation_p.I21V	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	21					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GTCCTCAGGCATCAACACAGC	0.418		NA											False	0	False	12:8276535	0
SLC16A9	220963	broad.mit.edu	37	10	61424005	61424005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:61424005G>A	ENST00000395348.3	-	4	1052	c.416C>T	c.(415-417)gCg>gTg	p.A139V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A139V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	139					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGGCCAAGCGCTAGGCCTCG	0.398		NA											False	0	False	10:61424005	0
UQCR11	10975	broad.mit.edu	37	19	1605381	1605381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:1605381A>G	ENST00000591899.3	-	1	99	c.28T>C	c.(28-30)Tac>Cac	p.Y10H	UQCR11_ENST00000585937.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000589880.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000585671.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000593029.1_5'UTR	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			breast(1)|lung(2)|ovary(1)|prostate(1)	5						AGCTCCCGGTAGCGTGGGCCC	0.731		NA											False	0	False	19:1605381	0
PLEC	5339	broad.mit.edu	37	8	145006714	145006714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:145006714G>A	ENST00000322810.4	-	16	2411	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	PLEC_ENST00000345136.3_Missense_Mutation_p.R611C|PLEC_ENST00000357649.2_Missense_Mutation_p.R615C|PLEC_ENST00000354589.3_Missense_Mutation_p.R611C|PLEC_ENST00000398774.2_Missense_Mutation_p.R579C|PLEC_ENST00000527096.1_Missense_Mutation_p.R634C|PLEC_ENST00000356346.3_Missense_Mutation_p.R597C|PLEC_ENST00000436759.2_Missense_Mutation_p.R638C|PLEC_ENST00000354958.2_Missense_Mutation_p.R589C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	748	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R611C(1)|p.R748C(1)|p.R638C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTGAGGCGGGCCTTGGAG	0.657		NA											False	0	True	8:145006714	0
FCGBP	8857	broad.mit.edu	37	19	40398010	40398010	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:40398010G>A	ENST00000221347.6	-	14	6964	c.6957C>T	c.(6955-6957)gcC>gcT	p.A2319A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2319						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCCCCAGCGGCCTGACAGG	0.652		NA											False	0	False	19:40398010	0
RBM6	10180	broad.mit.edu	37	3	50005374	50005374	+	Silent	SNP	A	A	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:50005374A>T	ENST00000443081.1	+	3	1039	c.120A>T	c.(118-120)ccA>ccT	p.P40P	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Silent_p.P172P|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	172					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATGCTCCTCCATCTGACTTCA	0.468		NA											False	0	False	3:50005374	0
MAGEA3	4102	broad.mit.edu	37	X	151935609	151935609	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:151935609G>A	ENST00000393902.3	-	3	1125	c.558C>T	c.(556-558)taC>taT	p.Y186Y	MAGEA3_ENST00000370278.3_Silent_p.Y186Y			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	186	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGCCATCGTAGGAGAGGC	0.572		NA											False	0	False	X:151935609	0
LRP12	29967	broad.mit.edu	37	8	105502937	105502937	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:105502937G>A	ENST00000276654.5	-	7	2652	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	LRP12_ENST00000424843.2_Silent_p.N829N|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	848					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACTCGTTTCGTTTTTCAGTG	0.418		NA											False	0	True	8:105502937	0
LTBR	4055	broad.mit.edu	37	12	6494502	6494502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6494502G>T	ENST00000228918.4	+	4	755	c.429G>T	c.(427-429)gaG>gaT	p.E143D	LTBR_ENST00000539925.1_Missense_Mutation_p.E124D|LTBR_ENST00000543190.1_Missense_Mutation_p.E36D|LTBR_ENST00000541102.1_Missense_Mutation_p.E36D	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	143					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CACACTGCGAGCTACTTTCTG	0.607		NA											False	0	False	12:6494502	0
KLHDC4	54758	broad.mit.edu	37	16	87790046	87790046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:87790046C>A	ENST00000270583.5	-	3	287	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KLHDC4_ENST00000347925.5_Nonsense_Mutation_p.E77*|KLHDC4_ENST00000353170.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	77										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AGGATTAACTCATCTTTCTCA	0.438		NA											False	0	False	16:87790046	0
PHACTR4	65979	broad.mit.edu	37	1	28807088	28807088	+	Silent	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:28807088C>A	ENST00000373839.3	+	9	1993	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R	PHACTR4_ENST00000373836.3_Silent_p.R588R|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGAAATACGGCACCAGAT	0.428		NA											False	0	False	1:28807088	0
MKL1	57591	broad.mit.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:40816901C>G	ENST00000396617.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657		NA	T	RBM15	acute megakaryocytic leukemia								False	0	True	22:40816901	0
LRP1	4035	broad.mit.edu	37	12	57587450	57587450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:57587450G>A	ENST00000243077.3	+	47	8252	c.7786G>A	c.(7786-7788)Gac>Aac	p.D2596N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2596	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATGGCTCTGACGAGATCCC	0.622		NA											False	0	False	12:57587450	0
MAP1S	55201	broad.mit.edu	37	19	17838243	17838243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:17838243G>A	ENST00000324096.4	+	5	2201	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T	MAP1S_ENST00000544059.2_Missense_Mutation_p.A658T|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	684	Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTCACTACCCGCAGAGGTGGG	0.711		NA											False	0	True	19:17838243	0
DAAM2	23500	broad.mit.edu	37	6	39847105	39847105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:39847105C>T	ENST00000538976.1	+	14	1879	c.1697C>T	c.(1696-1698)cCg>cTg	p.P566L	DAAM2_ENST00000274867.4_Missense_Mutation_p.P566L|DAAM2_ENST00000398904.2_Missense_Mutation_p.P566L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	566	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGGGGACCCCCGACTCCCCCA	0.672		NA											False	0	True	6:39847105	0
VEZF1	7716	broad.mit.edu	37	17	56060697	56060697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:56060697G>T	ENST00000584396.1	-	2	152	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	VEZF1_ENST00000581208.1_Missense_Mutation_p.L31M			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	31					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAGAGCTCAGGAGGGGCAGC	0.498		NA											False	0	False	17:56060697	0
LRRC71	149499	broad.mit.edu	37	1	156897772	156897772	+	Silent	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:156897772A>G	ENST00000337428.7	+	9	1126	c.972A>G	c.(970-972)aaA>aaG	p.K324K	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	324										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TGCTGGAAAAAGGGACACAGG	0.677		NA									OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:156897772	0
NRAP	4892	broad.mit.edu	37	10	115374049	115374049	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:115374049A>G	ENST00000369358.4	-	29	3461	c.3217T>C	c.(3217-3219)Tac>Cac	p.Y1073H	NRAP_ENST00000359988.3_Missense_Mutation_p.Y1065H|NRAP_ENST00000369360.3_Missense_Mutation_p.Y1038H|NRAP_ENST00000360478.3_Missense_Mutation_p.Y1030H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1065						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCTCTTTGTATTTGTACTAA	0.453		NA											False	0	True	10:115374049	0
ACBD6	84320	broad.mit.edu	37	1	180461444	180461444	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:180461444A>G	ENST00000367595.3	-	3	1031	c.344T>C	c.(343-345)aTc>aCc	p.I115T		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	115	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AACTACTGCGATATATTCCTG	0.358		NA											False	0	True	1:180461444	0
SNHG14	0	broad.mit.edu	37	15	25335130	25335130	+	RNA	SNP	T	T	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:25335130T>C	ENST00000546682.1	+	0	839				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA	NR_003361.1					NA											NA						GAGTGAAAACTCTATACCGTC	0.463		NA											False	0	False	15:25335130	0
PUSL1	126789	broad.mit.edu	37	1	1244619	1244619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:1244619G>A	ENST00000379031.5	+	3	366	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	97					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGCCGAGGCCCTCAACAC	0.746		NA											False	0	True	1:1244619	0
GREM2	64388	broad.mit.edu	37	1	240656720	240656720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:240656720G>A	ENST00000318160.4	-	2	322	c.56C>T	c.(55-57)gCg>gTg	p.A19V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	19					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGGGCTTCCGCCACCTTCAC	0.612		NA											False	0	False	1:240656720	0
RPAP1	26015	broad.mit.edu	37	15	41815528	41815528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:41815528G>T	ENST00000304330.4	-	18	2577	c.2461C>A	c.(2461-2463)Ctc>Atc	p.L821I	RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	821						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.L821I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTCCTGGAGCCAATCCTCC	0.577		NA											False	0	False	15:41815528	0
KNTC1	9735	broad.mit.edu	37	12	123019271	123019271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:123019271G>T	ENST00000333479.7	+	3	367	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	KNTC1_ENST00000450485.2_Missense_Mutation_p.D64Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	64					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TATTGTAGCCGACCAATCAGT	0.348		NA											False	0	False	12:123019271	0
CHD4	1108	broad.mit.edu	37	12	6686950	6686950	+	Splice_Site	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6686950C>T	ENST00000309577.6	-	36	5609		c.e36+1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	NA					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463		NA											False	0	False	12:6686950	0
KRT26	353288	broad.mit.edu	37	17	38928255	38928255	+	Silent	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:38928255C>T	ENST00000335552.4	-	1	159	c.111G>A	c.(109-111)tcG>tcA	p.S37S		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	37	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCTTGCTCCCGATCCAACAC	0.557		NA											False	0	True	17:38928255	0
VARS2	57176	broad.mit.edu	37	6	30892256	30892256	+	Silent	SNP	C	C	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:30892256C>G	ENST00000321897.5	+	25	3224	c.2592C>G	c.(2590-2592)ctC>ctG	p.L864L	VARS2_ENST00000542001.1_Silent_p.L724L|VARS2_ENST00000416670.2_Silent_p.L864L|VARS2_ENST00000541562.1_Silent_p.L894L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	864					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGAAGAGCTCTGGCAGAGGC	0.706		NA											False	0	False	6:30892256	0
GALNT16	57452	broad.mit.edu	37	14	69805396	69805396	+	Silent	SNP	T	T	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:69805396T>C	ENST00000337827.4	+	10	1323	c.996T>C	c.(994-996)ggT>ggC	p.G332G	GALNT16_ENST00000553669.1_Silent_p.G332G|GALNT16_ENST00000448469.3_Silent_p.G332G	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16	NA											NA						GGATGTGTGGTGGCAGTCTGG	0.592		NA											False	0	False	14:69805396	0
ASPSCR1	79058	broad.mit.edu	37	17	79973120	79973120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:79973120G>A	ENST00000306729.7	+	13	1620	c.1523G>A	c.(1522-1524)gGt>gAt	p.G508D	ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	505							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	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)			CCAAGCACTGGTCAGCCTCCA	0.627		NA	T	TFE3	alveolar soft part sarcoma								False	0	False	17:79973120	0
