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
MAGI2	9863	broad.mit.edu	37	7	77764435	77764435	+	Silent	SNP	C	C	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:77764435C>A	uc003ugx.3	-	16	3188	c.2934G>T	c.(2932-2934)gtG>gtT	p.V978V	MAGI2_uc003ugy.3_Silent_p.V964V|MAGI2_uc010ldx.1_Silent_p.V571V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	978	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTGGCCATTCACTGCTAGGA	0.502000													31	65					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778738	3778738	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:3778738G>A	uc002cvv.3	-	30	6514	c.6310C>T	c.(6310-6312)Cgc>Tgc	p.R2104C	CREBBP_uc002cvw.3_Missense_Mutation_p.R2066C	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2104					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGCTGTGCGCTGTTTGATG	0.622000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	398					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48713823	48713823	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr15:48713823G>A	uc001zwx.2	-	61	8026	c.7631C>T	c.(7630-7632)aCt>aTt	p.T2544I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2544	EGF-like 44; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTCCAGGAGTGTTCTGGCA	0.527000													12	22					0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:69752046C>T	uc002exp.3	-	2	474	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_uc002exq.3_Missense_Mutation_p.A95T|NQO1_uc002exr.3_Missense_Mutation_p.A95T|NQO1_uc010vll.2_Missense_Mutation_p.A95T	NM_000903	NP_000894	P15559	NQO1_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 1 (NQO1), transcript variant 1, mRNA.	95					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	NAD(P)H dehydrogenase (quinone) activity|coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	ACAAGGTCTGCGGCTTCCAGC	0.488000													5	325					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141305054	141305054	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:141305054C>T	uc003lls.3	+	2	348	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	KIAA0141_uc003llt.3_Missense_Mutation_p.R76C	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	76					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTCTTCCCGTGTCTCCCC	0.547000													4	155					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149174826	149174826	+	Missense_Mutation	SNP	C	C	T	rs147702038		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:149174826C>T	uc010lpi.2	-	4	812	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ZNF746_uc003wfw.2_Missense_Mutation_p.A181T	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	181					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGGTCTGGGGCGGGAACTGGG	0.647000													8	25					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432638	50432638	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr18:50432638T>A	uc002lfe.2	+	2	1253	c.637T>A	c.(637-639)Tca>Aca	p.S213T	DCC_uc010xdr.1_Missense_Mutation_p.S61T	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	213	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTACCGATGCTCAGCTCGAAA	0.493000													38	61					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39920741	39920741	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:39920741G>A	uc021olw.1	+	53	16376	c.16376G>A	c.(16375-16377)cGa>cAa	p.R5459Q	MACF1_uc021ols.1_Missense_Mutation_p.R4954Q|MACF1_uc021olt.1_Missense_Mutation_p.R4957Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6915					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.R5459Q(2)|p.R4957Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACATTGACCGAGTTAAAGCC	0.527000													9	68					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12052706	12052706	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:12052706G>A	uc001atn.4	+	3	723	c.270G>A	c.(268-270)gaG>gaA	p.E90E	MFN2_uc009vni.3_Silent_p.E90E	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCATCAGTGAGGTGCTGGCTC	0.532000													96	280					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931053	157931053	+	Silent	SNP	C	C	T	rs144691858	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:157931053C>T	uc003wno.3	-	6	1186	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	PTPRN2_uc003wnp.3_Silent_p.A338A|PTPRN2_uc003wnq.3_Silent_p.A355A|PTPRN2_uc003wnr.3_Silent_p.A317A|PTPRN2_uc011kwa.2_Silent_p.A378A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	355						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A355T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCCCAGGGCCGCTCTCCCAG	0.672000													39	41					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275374	238275374	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:238275374G>A	uc002vwl.2	-	10	5741	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	COL6A3_uc002vwo.2_Missense_Mutation_p.A1613V|COL6A3_uc010znj.1_Missense_Mutation_p.A1212V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1819	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATGCATCGCATCATGCAA	0.498000													60	131					0	0	1	0	0
UBFD1	56061	broad.mit.edu	37	16	23578315	23578315	+	Silent	SNP	T	T	C			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:23578315T>C	uc002dlv.3	+	5	946	c.744T>C	c.(742-744)acT>acC	p.T248T		NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	248										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TAGAGCGGACTGAGAAATTGC	0.498000													5	119					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781968	128781968	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:128781968G>T	uc001qet.3	+	1	1114	c.800G>T	c.(799-801)cGc>cTc	p.R267L	KCNJ5_uc009zck.3_Missense_Mutation_p.R267L|KCNJ5_uc001qew.3_Missense_Mutation_p.R267L	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	267					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D266E(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGCGACGACCGCCTCTTCCTT	0.552000													46	89					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21158736	21158736	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr10:21158736G>A	uc001iqi.3	-	5	912	c.515C>T	c.(514-516)aCg>aTg	p.T172M	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	172					regulation of actin filament length		actin binding|structural constituent of muscle	p.H171L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCACTGTACGTGTGGGTGTC	0.378000													24	42					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	939748	939748	+	Silent	SNP	C	C	G	rs139452042		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:939748C>G	uc003sjo.4	-	7	979	c.786G>C	c.(784-786)acG>acC	p.T262T	ADAP1_uc003sjm.4_Silent_p.T88T|ADAP1_uc011jvs.2_Silent_p.T167T|ADAP1_uc003sjn.4_Silent_p.T190T|ADAP1_uc010ksc.3_Silent_p.T190T	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	262	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CCTTGGGCCCCGTCTTCTCCA	0.647000													51	138					0	0	1	0	0
ZBTB47	92999	broad.mit.edu	37	3	42704607	42704607	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:42704607G>A	uc003clu.2	+	3	2006	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGGAGAAGCCGTTCAGATGTG	0.602000													6	118					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561391	145561391	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:145561391C>T	uc001eob.1	+	9	1187	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	ANKRD35_uc010oyx.1_Missense_Mutation_p.S203F	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	360										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCAAGGCTCTAGTCTCCGG	0.592000													22	40					0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	G	A	rs112615235	by1000genomes	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393000													7	28					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252655	124252655	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:124252655G>A	uc010sai.2	-	0	585	c.585C>T	c.(583-585)aaC>aaT	p.N195N		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAACCACCTCGTTGACATAGG	0.438000													37	90					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	T	C	rs1062001		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000													3	27					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125273	6125273	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr12:6125273C>A	uc001qnn.1	-	30	5687	c.5437G>T	c.(5437-5439)Gat>Tat	p.D1813Y	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1813	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCGGCATCAGCTGCTGCA	0.517000													10	44					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683436	218683436	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:218683436G>T	uc002vgt.2	-	23	3705	c.3307C>A	c.(3307-3309)Ccc>Acc	p.P1103T	TNS1_uc002vgr.2_Missense_Mutation_p.P1090T|TNS1_uc002vgs.2_Missense_Mutation_p.P1082T|TNS1_uc010zjv.1_Missense_Mutation_p.P1082T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1103	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCGTCCGGGGACCCTGGTCA	0.617000													5	73					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31690866	31690866	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:31690866C>A	uc011kae.2	+	11	2784	c.2772C>A	c.(2770-2772)gaC>gaA	p.D924E	CCDC129_uc011kad.1_Missense_Mutation_p.D908E|CCDC129_uc003tcj.1_Missense_Mutation_p.D898E|CCDC129_uc003tci.1_Missense_Mutation_p.D749E|CCDC129_uc003tck.1_Missense_Mutation_p.D806E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	898										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTCCAGGGACATGTCAGAGG	0.473000													38	97					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125850358	125850358	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:125850358G>T	uc003eim.1	-	12	1682	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.Q397K|ALDH1L1_uc003eio.3_Missense_Mutation_p.Q200K	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	498	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTGGTGCTGCTCCATGAGA	0.642000													7	67					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090990	32090990	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:32090990G>A	uc003jhl.3	+	19	7824	c.7436G>A	c.(7435-7437)cGc>cAc	p.R2479H	PDZD2_uc003jhm.3_Missense_Mutation_p.R2479H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2479					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCGTGTCCCGCTCCAAGCTC	0.592000													4	124					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:178916936G>A	uc003fjk.3	+	1	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	108	PI3K-ABD.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(20)|p.G106_R108del(4)|p.R108L(3)|p.G106_R108delGNR(3)|p.R108P(2)|p.R108del(2)|p.N107S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	96					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234178654	234178654	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:234178654G>A	uc002vty.3	+	5	905	c.648G>A	c.(646-648)cgG>cgA	p.R216R	ATG16L1_uc021vyl.1_Silent_p.R100R|ATG16L1_uc002vub.3_Silent_p.R93R|ATG16L1_uc002vtz.3_Silent_p.R72R|ATG16L1_uc002vud.4_Silent_p.R132R|ATG16L1_uc002vua.3_Silent_p.R216R|ATG16L1_uc002vtx.2_Silent_p.R72R	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	216					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ACAGGAGGCGGCAAGCCCGGC	0.433000													4	116					0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18085010	18085010	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr19:18085010C>T	uc002nht.3	+	2	623	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	KCNN1_uc010xqa.1_Missense_Mutation_p.R105C	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	105					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GAAGCGGAAGCGCCTCAGCGA	0.627000													21	28					0	0	1	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011248	2011248	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:2011248C>G	uc002cni.2	+	1	334	c.225C>G	c.(223-225)gaC>gaG	p.D75E	TCRBV20S1_uc021tak.1_Intron|NDUFB10_uc002cnj.2_Missense_Mutation_p.D75E	NM_004548	NP_004539	O96000	NDUBA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa (NDUFB10), nuclear gene encoding mitochondrial protein, mRNA.	75					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	AGGAGGAGGACATCATGTGCA	0.532000													37	98					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86215	86215	+	RNA	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chrGL000211.1:86215C>T	uc003bnz.1	+	5		c.963C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAGTTGACCCGCTGTTTGTT	0.423000													3	8					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	482257	482257	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:482257G>T	uc003jbe.2	-	7	1484	c.1372C>A	c.(1372-1374)Cct>Act	p.P458T	SLC9A3_uc011clx.1_Intron	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	458						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCACCAGAGGCTTGATGGTC	0.692000													17	32					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789603	26789603	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr13:26789603C>T	uc001uqo.3	-	4	761	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.R139Q|RNF6_uc001uqq.3_Missense_Mutation_p.R139Q|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	139					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CGGGTTTGTTCGACTCACAGC	0.403000													6	91					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340367	90340367	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:90340367G>C	uc003pni.4	+	15	2169	c.1828G>C	c.(1828-1830)Gct>Cct	p.A610P	ANKRD6_uc003pne.4_Missense_Mutation_p.A605P|ANKRD6_uc003pnf.4_Missense_Mutation_p.A575P|ANKRD6_uc011dzy.2_Missense_Mutation_p.A610P|ANKRD6_uc010kcd.3_Missense_Mutation_p.A546P|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.A206P	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	610							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TGATCAGCAGGCTGGGCCCTG	0.582000													9	29					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216384	111216384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:111216384G>A	uc001dzv.1	-	0	1272	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	350						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCCTGTCGTTCGGCCAGC	0.547000													53	117					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	A	G	rs1057378	by1000genomes	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000													3	52					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193046080	193046080	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:193046080A>G	uc001gss.3	+	4	1362	c.986A>G	c.(985-987)gAa>gGa	p.E329G	TROVE2_uc001gsu.2_Missense_Mutation_p.E54G|TROVE2_uc001gsv.2_Missense_Mutation_p.E329G|TROVE2_uc009wyp.3_Missense_Mutation_p.E329G|TROVE2_uc001gsw.3_Missense_Mutation_p.E329G|TROVE2_uc009wyq.3_Missense_Mutation_p.E329G|TROVE2_uc001gsx.2_Missense_Mutation_p.E329G	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	329	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCGCATTAGAAACTTACAAG	0.338000													10	22					0	0	1	0	0
PRELID1	27166	broad.mit.edu	37	5	176731691	176731691	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:176731691G>A	uc003mfx.3	+	1	310	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	RAB24_uc003mfv.3_5'Flank|RAB24_uc003mfw.3_5'Flank|PRELID1_uc021yiq.1_Missense_Mutation_p.R53Q	NM_013237	NP_037369	Q9Y255	PRLD1_HUMAN	Homo sapiens PRELI domain containing 1 (PRELID1), nuclear gene encoding mitochondrial protein, mRNA.	53	PRELI/MSF1.				immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCGGCGACTCCTG	0.567000													12	42					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6733629	6733629	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr17:6733629G>T	uc002gdt.3	-	1	177	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TEKT1_uc010vth.2_5'UTR	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	23					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTGTGGTACTGGTTCTTGTTA	0.468000													10	40					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:82784471A>G	uc003uhx.2	-	1	1775	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_uc003uhv.2_Missense_Mutation_p.S496P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(9)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607000													10	242					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223499164	223499164	+	Silent	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:223499164C>T	uc010zlq.1	-	6	647	c.612G>A	c.(610-612)aaG>aaA	p.K204K	FARSB_uc002vne.1_Silent_p.K184K|FARSB_uc002vnf.1_Silent_p.K85K	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	184					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATTTAGAGGCTTGAATTTGA	0.383000													17	62					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619651	619651	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:619651T>C	uc003gap.3	+	0	289	c.236T>C	c.(235-237)gTc>gCc	p.V79A	PDE6B_uc003gao.4_Missense_Mutation_p.V79A	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	79	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTCTTCAAGGTCCTGCGGCGC	0.662000													8	19					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140715136	140715136	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr8:140715136C>T	uc003yvf.1	-	0	164	c.100G>A	c.(100-102)Gag>Aag	p.E34K	KCNK9_uc003yvg.1_Missense_Mutation_p.E34K	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	34						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCGCGCATCTCGTGGTCCGAC	0.607000													6	33					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137721936	137721936	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:137721936G>T	uc003lcy.1	+	6	1206	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	KDM3B_uc010jew.1_Intron|KDM3B_uc011cys.1_5'Flank	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	336					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCAGGGCTGGATCAGAGAGC	0.552000													52	194					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21926096	21926096	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:21926096G>C	uc001bev.3	-	18	1940	c.1922C>G	c.(1921-1923)gCg>gGg	p.A641G	RAP1GAP_uc001bew.3_Missense_Mutation_p.A620G|RAP1GAP_uc001bey.3_Missense_Mutation_p.A582G|RAP1GAP_uc001bex.3_Missense_Mutation_p.A556G	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	556					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGCTCTCTGCGCTGCGGTCTC	0.687000													19	47					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846675	7846675	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:7846675A>G	uc010rbg.2	-	0	845	c.845T>C	c.(844-846)aTt>aCt	p.I282T		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAACATGGGAATCACCACGGT	0.443000													20	50					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2834226	2834226	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:2834226C>G	uc003mub.3	-	6	800	c.756G>C	c.(754-756)ttG>ttC	p.L252F		NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	252					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		GCAACTTTTCCAAAGTCAACT	0.363000													9	45					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078692	21078692	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:21078692C>T	uc010vbe.2	-	23	3430	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1144	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E1144K(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGCTTCTCTGCCATCCGT	0.468000													4	99					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71050125	71050126	+	In_Frame_Ins	INS	-	-	TAGCTC			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:71050125_71050126insTAGCTC	uc003dol.3	-	8	1382_1383	c.1059_1060insGAGCTA	c.(1057-1062)insGAGCTA	p.353_354insEL	FOXP1_uc003dom.3_In_Frame_Ins_p.277_278insEL|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_In_Frame_Ins_p.353_354insEL|FOXP1_uc003doo.3_In_Frame_Ins_p.353_354insEL|FOXP1_uc003dop.3_In_Frame_Ins_p.353_354insEL|FOXP1_uc021xao.1_In_Frame_Ins_p.353_354insEL|FOXP1_uc003doq.1_In_Frame_Ins_p.352_353insEL|FOXP1_uc003doi.3_In_Frame_Ins_p.253_254insEL|FOXP1_uc003dok.3_In_Frame_Ins_p.279_280insEL|FOXP1_uc003doj.3_In_Frame_Ins_p.355_356insEL|FOXP1_uc003dor.1_In_Frame_Ins_p.131_132insEL	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	353	Leucine-zipper.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGTTTTACCTGTAGCTCTAACT	0.381			T	PAX5	ALL								12	54	---	---	---	---					
WDR1	9948	broad.mit.edu	37	4	10089926	10089927	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:10089926_10089927delCC	uc021xlv.1	-	6	990_991	c.707_708delGG	c.(706-708)gggfs	p.G236fs	WDR1_uc021xlw.1_Frame_Shift_Del_p.G96fs|WDR1_uc003gmh.2_Non-coding_Transcript|WDR1_uc021xly.1_Frame_Shift_Del_p.G71fs	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	236					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCGTAAATCCCACCGTCGTG	0.530													2	4	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111685156	111685156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:111685156delG	uc003puy.4	-	15	7120	c.6779delC	c.(6778-6780)ccafs	p.P2260fs	REV3L_uc003pux.4_Frame_Shift_Del_p.P2182fs|REV3L_uc003puz.4_Frame_Shift_Del_p.P2182fs|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2260					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTTCTGTGGGGTATTTAC	0.338								DNA polymerases (catalytic subunits)					33	71	---	---	---	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			8	101	---	---	---	---					
CBS	875	broad.mit.edu	37	21	44476945	44476945	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr21:44476945delT	uc002zcu.2	-	15	1765	c.1520delA	c.(1519-1521)cacfs	p.H507fs	CBS_uc002zcs.1_Frame_Shift_Del_p.H402fs|CBS_uc002zct.2_Frame_Shift_Del_p.H507fs|CBS_uc002zcw.3_Frame_Shift_Del_p.H507fs|CBS_uc002zcv.2_Frame_Shift_Del_p.H507fs	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	507					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CAGGGCGAAGTGGTCCATCTC	0.652													2	4	---	---	---	---					
