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
MUC7	4589	broad.mit.edu	37	4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	rs145866670		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:71347534G>A	ENST00000413702.1	+	4	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000304887.5_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	358						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358000													14	24					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr7:47851503G>A	ENST00000289672.2	-	50	7543	c.7493C>T	c.(7492-7494)aCg>aTg	p.T2498M	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2498					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGACTCCCCGTAGGGAGGAT	0.582000													7	22					0	0	1	0	0
LRRC59	55379	broad.mit.edu	37	17	48465454	48465454	+	Missense_Mutation	SNP	G	G	A	rs140038553		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:48465454G>A	ENST00000225972.7	-	5	704	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	157						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCCTCTCCCGCTCCTGATCT	0.527000													76	42					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113291	161113291	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:161113291G>A	ENST00000523217.1	+	2	336	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	GABRA6_ENST00000274545.5_Missense_Mutation_p.V32I|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488000										TCGA Ovarian(5;0.080)			26	35					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260408	44260408	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr18:44260408G>A	ENST00000315087.7	-	7	1388	c.728C>T	c.(727-729)tCg>tTg	p.S243L	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S212L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S279L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	243					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCAGCACCGACGCGTTCTC	0.607000													4	5					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140166983	140166983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140166983G>A	ENST00000504120.2	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A370T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A370T	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCATCGCCCTCATCAC	0.527000													14	46					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234235841	234235841	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:234235841G>C	ENST00000409110.1	+	7	740	c.510G>C	c.(508-510)aaG>aaC	p.K170N	SAG_ENST00000449594.2_Missense_Mutation_p.K36N	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	170					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAATCCCCAAGAAGTAAGAGT	0.552000													69	50					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474561	102474561	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:102474561G>T	ENST00000360184.4	+	29	6028	c.5864G>T	c.(5863-5865)gGc>gTc	p.G1955V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1955	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCCTGGGGCTGCTTTGAC	0.587000													20	15					6.44725e-10	7.33653e-10	1	1	0
IPO9	55705	broad.mit.edu	37	1	201824023	201824023	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:201824023T>C	ENST00000361565.4	+	8	952	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	295					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCCTATTGTTTGGAACACCCT	0.448000													13	63					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040264	31040264	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A1246A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632000													12	15					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4356345	4356345	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:4356345G>A	ENST00000355530.2	+	8	1238	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.V193I	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	320					lipid transport|transmembrane transport	integral to membrane		p.V320I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATGACCGGCGTCATTGGGGT	0.572000													36	18					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21594838	21594838	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:21594838G>T	ENST00000244745.1	+	1	867	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C	SOX4_ENST00000543472.1_Missense_Mutation_p.G25C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	25					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CTCGGGCGCCGGCCTCGAGCT	0.731000													4	18					0.014758	0.0152192	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22924293	22924293	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:22924293G>A	ENST00000166244.3	+	11	2127	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAGCGAGGCGTCCATCATGG	0.662000													71	56					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25228881	25228881	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:25228881G>A	ENST00000399916.1	-	6	1460	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	RUNX3_ENST00000540420.1_Missense_Mutation_p.P234L|RUNX3_ENST00000338888.3_Missense_Mutation_p.P341L|RUNX3_ENST00000308873.6_Missense_Mutation_p.P327L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	327	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTAGGGGGACGGGTTGGCCTG	0.692000													10	34					0	0	1	0	0
FAM86HP	0	broad.mit.edu	37	3	129824472	129824472	+	RNA	SNP	G	G	A	rs9713561	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:129824472G>A	ENST00000500074.2	-	0	157																											GGACAGCCTCGTGCTGGGGGC	0.537000													5	38					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5222929	5222929	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:5222929C>T	ENST00000274181.7	+	11	1771	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R545C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	545	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGTGCCATCGTATTGGAAG	0.368000													16	23					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140348188	140348188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140348188G>A	ENST00000289269.5	+	1	2369	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		613	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGACTCAGACTCTGGGCA	0.512000													3	32					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653246	55653246	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:55653246G>A	ENST00000449290.2	+	2	434	c.342G>A	c.(340-342)ccG>ccA	p.P114P		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	114						intracellular	zinc ion binding										TCTGTTTGCCGTGCTCCAACT	0.507000													9	11					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9987317	9987317	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:9987317G>A	ENST00000506583.1	-	6	641	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R142C|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R171C			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	171					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGATGAAGCGTCCCACGATG	0.517000													12	29					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470654	10470654	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr8:10470654G>A	ENST00000382483.3	-	4	1177	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	318					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662000													51	49					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006466	30006466	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr16:30006466T>C	ENST00000279392.3	-	3	1089	c.259A>G	c.(259-261)Agc>Ggc	p.S87G	HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.S87G	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	87					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCGGGTCGCTACAAGGGGTG	0.552000													9	109					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	3					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96410892	96410892	+	Splice_Site	SNP	C	C	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:96410892C>G	ENST00000228740.2	-	10	1018	c.876_splice	c.e10-1	p.V293_splice	LTA4H_ENST00000552789.1_Splice_Site_p.V269_splice|LTA4H_ENST00000413268.2_Splice_Site_p.V269_splice	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	293					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGTGCAATGACCTAAAGAAAA	0.299000													27	20					0	0	1	0	0
ATF4P4	0	broad.mit.edu	37	11	113659993	113659993	+	RNA	SNP	A	A	C	rs906846	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:113659993A>C	ENST00000393544.2	+	0	41																											GGCAGCATGTAGGTTGCAGGG	0.657000													3	26					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186383868	186383868	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:186383868G>A	ENST00000232003.4	+	1	128	c.48G>A	c.(46-48)tcG>tcA	p.S16S	HRG_ENST00000468154.1_3'UTR	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	16					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGCAGTATTCGTGTGCCGTGA	0.468000													12	40					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582042	180582042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:180582042G>A	ENST00000328275.1	+	1	100	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	34			A -> V (in dbSNP:rs17617270).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGTTATGGCGGTCTTCAC	0.537000													38	84					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													6	67					0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88189554	88189554	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:88189554T>C	ENST00000309495.5	+	1	1301	c.1094T>C	c.(1093-1095)gTt>gCt	p.V365A	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTCTGCCAGTTTCTACTAGC	0.358000													6	15					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79387412	79387412	+	Silent	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:79387412C>T	ENST00000264895.6	+	50	7520	c.7080C>T	c.(7078-7080)atC>atT	p.I2360I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2359					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCACCATCGAGCGAACCA	0.547000													24	54					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	rs147056383	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:71887771G>A	ENST00000258104.3	+	44	5153	c.4876G>A	c.(4876-4878)Gta>Ata	p.V1626I	DYSF_ENST00000394120.2_Missense_Mutation_p.V1627I|DYSF_ENST00000409744.1_Missense_Mutation_p.V1634I|DYSF_ENST00000409366.1_Missense_Mutation_p.V1648I|DYSF_ENST00000410020.3_Missense_Mutation_p.V1665I|DYSF_ENST00000409582.3_Missense_Mutation_p.V1664I|DYSF_ENST00000409762.1_Missense_Mutation_p.V1643I|DYSF_ENST00000413539.2_Missense_Mutation_p.V1657I|DYSF_ENST00000410041.1_Missense_Mutation_p.V1644I|DYSF_ENST00000409651.1_Missense_Mutation_p.V1658I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.V1647I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1626	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGAGCCCGTATTTGGAAA	0.507000													5	28					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776380	31776380	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr15:31776380C>T	ENST00000382902.1	-	11	2011	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	OTUD7A_ENST00000307050.4_Missense_Mutation_p.R633H			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	633						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GATGAACTTGCGCTCCCCCTG	0.672000													5	11					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473467	31473467	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:31473467G>A	ENST00000252229.6	+	2	223	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MICB_ENST00000399150.3_Silent_p.E48E|MICB_ENST00000538442.1_Silent_p.E16E	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	48					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCTCGCTGAGGGACATCTGG	0.557000													25	21					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8415150	8415150	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:8415150T>G	ENST00000337907.3	-	24	5332	c.4698A>C	c.(4696-4698)ttA>ttC	p.L1566F	RERE_ENST00000476556.1_Missense_Mutation_p.L1012F|RERE_ENST00000377464.1_Missense_Mutation_p.L1298F|RERE_ENST00000400907.2_Missense_Mutation_p.L584F|RERE_ENST00000400908.2_Missense_Mutation_p.L1566F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1566					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AAATAACTTATAACTGCTTGT	0.438000													17	14					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													6	120					0.0215528	0.0218843	1	1	0
PCNX	22990	broad.mit.edu	37	14	71444691	71444691	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:71444691C>T	ENST00000304743.2	+	6	2083	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	PCNX_ENST00000238570.5_Missense_Mutation_p.S546F|PCNX_ENST00000439984.3_Missense_Mutation_p.S546F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	546						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGACCTAAATCTTCTAGCGTA	0.468000													22	22					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227876966	227876966	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:227876966C>T	ENST00000396625.3	-	45	4471	c.4264G>A	c.(4264-4266)Gtc>Atc	p.V1422I	COL4A4_ENST00000329662.7_Missense_Mutation_p.V1419I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1422	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCAGGGACGCCATCCACA	0.567000													15	31					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12866569	12866569	+	Silent	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:12866569C>T	ENST00000549706.1	+	7	1179	c.855C>T	c.(853-855)gcC>gcT	p.A285A	BEST2_ENST00000042931.1_Silent_p.A285A|BEST2_ENST00000553030.1_Silent_p.A285A			Q8NFU1	BEST2_HUMAN	bestrophin 2	285					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCTTCTACGCCGGCTGGCTCA	0.582000													3	30					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	26					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104374741	104374741	+	Splice_Site	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:104374741G>T	ENST00000392872.3	+	4	712		c.e4+1		TDG_ENST00000542036.1_Splice_Site|TDG_ENST00000544861.1_Splice_Site|TDG_ENST00000266775.9_Splice_Site	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AACCATTTTTGTAAGTGGTTA	0.318000								Base excision repair (BER), DNA glycosylases					33	12					1.26612e-14	1.46603e-14	1	1	0
NCMAP	400746	broad.mit.edu	37	1	24932146	24932146	+	Missense_Mutation	SNP	G	G	A	rs113438005		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:24932146G>A	ENST00000374392.2	+	4	283	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1			noncompact myelin associated protein																		CAAGCCAACCGCCCCTTCTGC	0.592000													12	43					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371628	76371628	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:76371628G>T	ENST00000407242.2	-	3	1251	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.H337N|LRRC32_ENST00000404995.1_Missense_Mutation_p.H337N	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	337						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTCAGGTGCTCAAGAAAG	0.587000													9	17					0.00448238	0.00477157	1	1	0
SLC6A19	340024	broad.mit.edu	37	5	1217005	1217005	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:1217005C>T	ENST00000304460.10	+	8	1174	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	373					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A373V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGACCCCGCGGCCTACGCG	0.622000													53	128					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1004802	1004802	+	Silent	SNP	C	C	T	rs139557341		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:1004802C>T	ENST00000234389.3	+	3	1321	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	434					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTGATCCAGACGAAGACGGGC	0.677000													4	73					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr21:11058248G>A	ENST00000470054.1	-	0	399									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433000													5	52					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9870897	9870897	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:9870897G>A	ENST00000383827.1	+	4	3017	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V519M|TTLL3_ENST00000547186.1_Missense_Mutation_p.V458M|TTLL3_ENST00000430793.1_Missense_Mutation_p.V246M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V246M|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000455274.1_Missense_Mutation_p.V246M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V601M|TTLL3_ENST00000427853.3_Missense_Mutation_p.V246M			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	458	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGCTGACTTCGTGTTCGGGGA	0.617000													33	21					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84284808	84284808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:84284808delT	ENST00000428679.2	-	26	2956	c.2363delA	c.(2362-2364)agfs	p.K788fs	SNAP91_ENST00000195649.6_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.K758fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000439399.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.K481fs			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	788					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCAGTCAACTTTTTCTCTCC	0.453													2	4	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174139	13174141	+	RNA	DEL	AAA	AAA	-	rs71436744	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:13174139_13174141delAAA	ENST00000543321.1	+	0	1025																											tctctgtctcaaaaacaacaaca	0.547													2	4	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCG	rs61991619		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:77493647_77493648insGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGC	c.(487-489)ggc>gCGCgc	p.163_163G>AR		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.					nucleus		p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748													3	5	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:29527568_29527569delCT	ENST00000358273.4	+	9	1400_1401	c.1017_1018delCT	c.(1015-1020)aactfs	p.NS339fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.NS339fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.NS339fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	339					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			17	8	---	---	---	---					
