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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OFD1	8481	broad.mit.edu	37	X	13754640	13754640	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chrX:13754640T>C	uc004cvp.4	+	2	514	c.155T>C	c.(154-156)gTa>gCa	p.V52A	OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_5'UTR|OFD1_uc010nen.3_Missense_Mutation_p.V51A|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.V51A|OFD1_uc004cvv.4_Missense_Mutation_p.V51A|TRAPPC2_uc010nej.2_5'Flank|TRAPPC2_uc022btf.1_5'Flank|TRAPPC2_uc022btg.1_5'Flank|TRAPPC2_uc010nem.2_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	52					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATGCACCCTGTATTGAGTGGA	0.398000														131			3		0	0	0.000248	0	0
ACO1	48	broad.mit.edu	37	9	32448942	32448942	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:32448942A>T	uc003zqw.4	+	19	2574	c.2419A>T	c.(2419-2421)Aac>Tac	p.N807Y	ACO1_uc003zqx.4_Missense_Mutation_p.N807Y|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	807					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCACCGCAGTAACCTGGTTGG	0.478000														38			23		0	0	0.004656	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258537	19258537	+	Silent	SNP	A	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:19258537A>C	uc002nlp.2	-	5	1090	c.363T>G	c.(361-363)ggT>ggG	p.G121G	MEF2B_uc002nll.2_Silent_p.G121G|MEF2B_uc010xqo.1_Silent_p.G121G|MEF2B_uc010xqp.1_Silent_p.G121G|MEF2B_uc002nlo.2_Silent_p.G121G|MEF2B_uc002nlk.2_Silent_p.G124G	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.									p.G120R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			AGGCCGGATCACCCCCTTCGC	0.627000														49			10		0	0	0.001512	0	0
XRN1	54464	broad.mit.edu	37	3	142123863	142123863	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr3:142123863C>G	uc003eus.3	-	15	1836	c.1769G>C	c.(1768-1770)aGg>aCg	p.R590T	XRN1_uc010huu.3_Missense_Mutation_p.R56T|XRN1_uc003eut.3_Missense_Mutation_p.R590T|XRN1_uc003euu.3_Missense_Mutation_p.R590T|XRN1_uc003euv.1_Missense_Mutation_p.R451T	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	590					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTTCTTTTCCTCTCTTCCTT	0.408000														43			31		0	0	0.002096	0	0
HMGB1	3146	broad.mit.edu	37	13	31035512	31035512	+	Missense_Mutation	SNP	T	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:31035512T>A	uc001usx.3	-	4	793	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_uc001usz.3_Missense_Mutation_p.E210D|HMGB1_uc001usv.3_3'UTR|HMGB1_uc001usy.3_Missense_Mutation_p.E171D|HMGB1_uc001uta.1_3'UTR	NM_002128	NP_002119	P09429	HMGB1_HUMAN	Homo sapiens high mobility group box 1 (HMGB1), mRNA.	210	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|dendritic cell chemotaxis|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of DNA binding|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	DNA bending activity|RAGE receptor binding|chemoattractant activity|cytokine activity|damaged DNA binding|double-stranded DNA binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCAtcatcttcttcttcat	0.378000														34			4		0	0	0.000248	0	0
FAM71B	153745	broad.mit.edu	37	5	156590094	156590094	+	Silent	SNP	T	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr5:156590094T>A	uc003lwn.3	-	1	1282	c.1182A>T	c.(1180-1182)gcA>gcT	p.A394A		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	394						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGTCCCACTGCTGGTCCTT	0.552000														48			29		0	0	0.002096	0	0
RYR1	6261	broad.mit.edu	37	19	38990577	38990577	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:38990577G>A	uc002oit.3	+	44	7374	c.7244G>A	c.(7243-7245)cGg>cAg	p.R2415Q	RYR1_uc002oiu.3_Missense_Mutation_p.R2415Q|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2415	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAGAAAACCGGGTGCACCTG	0.632000														49			29		0	0	0.001786	0	0
COL6A3	1293	broad.mit.edu	37	2	238277277	238277277	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:238277277A>G	uc002vwl.2	-	9	5114	c.4829T>C	c.(4828-4830)aTg>aCg	p.M1610T	COL6A3_uc002vwo.2_Missense_Mutation_p.M1404T|COL6A3_uc010znj.1_Missense_Mutation_p.M1003T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1610	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)		AAACGAGTTCATGATTCTTTC	0.547000														167			6		0	0	0.001168	0	0
KTN1	3895	broad.mit.edu	37	14	56107681	56107681	+	Nonsense_Mutation	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr14:56107681C>T	uc001xcb.3	+	16	2316	c.2014C>T	c.(2014-2016)Caa>Taa	p.Q672*	KTN1_uc001xcc.3_Nonsense_Mutation_p.Q672*|KTN1_uc001xcd.3_Nonsense_Mutation_p.Q672*|KTN1_uc001xce.3_Nonsense_Mutation_p.Q672*|KTN1_uc010trb.2_Nonsense_Mutation_p.Q672*|KTN1_uc001xcf.1_Nonsense_Mutation_p.Q672*	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	672					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GGAGAAGATGCAACAAAGGTG	0.338000			T	RET	papillary thryoid									29			13		0	0	0.004007	0	0
MLL2	8085	broad.mit.edu	37	12	49434235	49434235	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr12:49434235C>T	uc001rta.4	-	30	7318	c.7318G>A	c.(7318-7320)Gtt>Att	p.V2440I		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2440	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CGAGGGGTAACGGGTGATGGG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				55			26		0	0	0.001512	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778270	34778270	+	Silent	SNP	C	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr20:34778270C>A	uc002xfb.3	+	9	1269	c.1098C>A	c.(1096-1098)gtC>gtA	p.V366V	EPB41L1_uc002xeu.3_Silent_p.V304V|EPB41L1_uc010zvo.1_Silent_p.V366V|EPB41L1_uc002xev.3_Silent_p.V366V|EPB41L1_uc002xew.3_Silent_p.V269V|EPB41L1_uc002xex.3_Silent_p.V335V|EPB41L1_uc002xey.3_Silent_p.V293V|EPB41L1_uc002xez.3_Silent_p.V304V	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	366	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.V366V(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGTGGAAGGTCTGCATCGAGC	0.537000														33			9		0.000442599	0.00195567	0.006214	1	0
ACSL1	2180	broad.mit.edu	37	4	185686012	185686012	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:185686012G>A	uc003iww.2	-	14	1721	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	ACSL1_uc011ckm.1_Missense_Mutation_p.T305I|ACSL1_uc003iwt.1_Missense_Mutation_p.T476I|ACSL1_uc003iwu.1_Missense_Mutation_p.T476I|ACSL1_uc011ckn.1_Missense_Mutation_p.T442I|ACSL1_uc003iws.1_Missense_Mutation_p.T46I	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	476					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.W475C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATACCTGCGGTCCAGTCTCC	0.468000														22			9		0	0	0.004482	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675996	77675996	+	Missense_Mutation	SNP	C	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:77675996C>A	uc011cbx.2	+	6	5313	c.4360C>A	c.(4360-4362)Ctg>Atg	p.L1454M	SHROOM3_uc003hkg.3_Missense_Mutation_p.L1232M	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1454					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTTTGCAAACCTGAAGCACTA	0.567000														31			18		3.41278e-10	1.58153e-09	0.004990	1	0
NBAS	51594	broad.mit.edu	37	2	15691634	15691634	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:15691634A>G	uc002rcc.1	-	5	388	c.362T>C	c.(361-363)aTt>aCt	p.I121T	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	121										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTCCCAATAATGGATGTAAA	0.299000														11			6		0	0	0.001168	0	0
CAPS	828	broad.mit.edu	37	19	5914495	5914495	+	Silent	SNP	G	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:5914495G>T	uc002mdt.3	+	1	228	c.78G>T	c.(76-78)ctG>ctT	p.L26L	CAPS_uc002mdu.3_Silent_p.L26L	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	Homo sapiens calcyphosine (CAPS), transcript variant 1, mRNA.	26	EF-hand 1.				intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						TCCAGGGCCTGGCCAGGTGAG	0.667000														33			22		8.10497e-08	3.66654e-07	0.001523	1	0
SMARCA4	6597	broad.mit.edu	37	19	11113781	11113781	+	Missense_Mutation	SNP	G	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:11113781G>C	uc010dxp.3	+	12	2249	c.1889G>C	c.(1888-1890)gGc>gCc	p.G630A	SMARCA4_uc010dxo.3_Missense_Mutation_p.G630A|SMARCA4_uc002mqf.4_Missense_Mutation_p.G630A|SMARCA4_uc002mqg.1_Missense_Mutation_p.G630A|SMARCA4_uc010dxq.3_Missense_Mutation_p.G630A|SMARCA4_uc010dxr.3_Missense_Mutation_p.G630A|SMARCA4_uc002mqj.4_Missense_Mutation_p.G630A|SMARCA4_uc010dxs.3_Missense_Mutation_p.G630A	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	630					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCCTCACAGGCACAGATGCC	0.597000			"""F, N, Mis"""		NSCLC									67			22		0	0	0.003954	0	0
SPTLC1	10558	broad.mit.edu	37	9	94877626	94877626	+	Silent	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:94877626A>T	uc011ltv.1	-	0	65	c.27T>A	c.(25-27)gtT>gtA	p.V9V	SPTLC1_uc004arl.1_Silent_p.V9V|SPTLC1_uc004arm.1_Silent_p.V9V|SPTLC1_uc004arn.1_Silent_p.V9V			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	9						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCTCCACCAGAACCCACTGCT	0.652000														56			12		0	0	0.001368	0	0
PODXL2	50512	broad.mit.edu	37	3	127379599	127379599	+	Nonsense_Mutation	SNP	T	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr3:127379599T>A	uc003ejq.2	+	2	752	c.728T>A	c.(727-729)tTg>tAg	p.L243*		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	243					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGCCCAGCTTGCTGCTGCCT	0.647000														57			16		0	0	0.004990	0	0
LOC440563	440563	broad.mit.edu	37	1	13183399	13183399	+	Silent	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:13183399A>G	uc010obg.2	-	1	717	c.474T>C	c.(472-474)agT>agC	p.S158S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	158						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										AATTGAAGCCACTTTTGCCCC	0.512000														670			67		0	0	0.003610	0	0
JAK1	3716	broad.mit.edu	37	1	65330541	65330541	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:65330541A>T	uc001dbu.1	-	7	1354	c.1105T>A	c.(1105-1107)Ttc>Atc	p.F369I	JAK1_uc009wam.1_Missense_Mutation_p.F369I	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	369	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ATTTCAGGGAAGTAAGAAAAA	0.368000			Mis		ALL									39			20		0	0	0.001523	0	0
SMEK2	57223	broad.mit.edu	37	2	55812212	55812212	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:55812212A>G	uc002rzc.3	-	6	1900	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	SMEK2_uc002rzb.3_Missense_Mutation_p.M403T|SMEK2_uc002rzd.3_Missense_Mutation_p.M403T|SMEK2_uc002rza.3_Missense_Mutation_p.M279T	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	403						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCTTCTTGCATTACAAACTC	0.368000														83			24		0	0	0.005443	0	0
C1orf64	149563	broad.mit.edu	37	1	16332451	16332451	+	Silent	SNP	G	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:16332451G>C	uc001axn.3	+	1	188	c.120G>C	c.(118-120)acG>acC	p.T40T		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	40										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTCCCCACGGCTCACCTGA	0.562000														258			94		0	0	0.003610	0	0
MAU2	23383	broad.mit.edu	37	19	19431865	19431865	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:19431865G>T	uc002nmk.4	+	0	236	c.197G>T	c.(196-198)cGt>cTt	p.R66L	SUGP1_uc002nmh.3_5'Flank|SUGP1_uc002nmi.3_5'Flank|SUGP1_uc002nmj.3_5'Flank|SUGP1_uc010xqr.2_5'Flank|SUGP1_uc010xqs.2_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	66	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ATCGAGGCCCGTACACACCTG	0.682000														21			9		7.48243e-07	3.34509e-06	0.006214	1	0
CRKL	1399	broad.mit.edu	37	22	21272259	21272259	+	Missense_Mutation	SNP	G	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr22:21272259G>C	uc002ztf.2	+	0	546	c.37G>C	c.(37-39)Gcc>Ccc	p.A13P		NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	13					JNK cascade|Ras protein signal transduction	cytosol	SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGACCGCTCCGCCTGGTATAT	0.697000														36			10		0	0	0.006214	0	0
MLL5	55904	broad.mit.edu	37	7	104717426	104717426	+	Missense_Mutation	SNP	T	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr7:104717426T>G	uc003vcm.3	+	9	1319	c.785T>G	c.(784-786)aTt>aGt	p.I262S	MLL5_uc010lja.1_Missense_Mutation_p.I116S|MLL5_uc010ljb.1_Missense_Mutation_p.I262S|MLL5_uc003vcl.3_Missense_Mutation_p.I262S|MLL5_uc010ljc.3_Missense_Mutation_p.I262S|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	262					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						GCTCCAGAGATTGATCCTTCA	0.418000														29			22		0	0	0.002299	0	0
FTSJD2	23070	broad.mit.edu	37	6	37442389	37442389	+	Silent	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr6:37442389A>G	uc003ons.3	+	17	2164	c.1911A>G	c.(1909-1911)ctA>ctG	p.L637L		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	637					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACACTCTGCTATCTGTGGAAA	0.572000														61			23		0	0	0.003954	0	0
RDH5	5959	broad.mit.edu	37	12	56115126	56115126	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr12:56115126T>C	uc001shk.3	+	1	341	c.158T>C	c.(157-159)tTc>tCc	p.F53S	BLOC1S1_uc001shj.4_Intron|RDH5_uc021qyt.1_Intron|RDH5_uc010spt.1_Missense_Mutation_p.F53S|RDH5_uc010spu.1_5'UTR|RDH5_uc001shl.3_Missense_Mutation_p.F53S	NM_002905	NP_002896	Q92781	RDH1_HUMAN	Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA.	53					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CAGAGAGGCTTCCGAGTCCTG	0.662000											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			23		0	0	0.003954	0	0
TRIM46	80128	broad.mit.edu	37	1	155148034	155148034	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:155148034C>G	uc001fhs.1	+	1	319	c.236C>G	c.(235-237)tCt>tGt	p.S79C	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.S66C|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.S79C|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.S56C|TRIM46_uc009wpg.1_Missense_Mutation_p.S66C|TRIM46_uc009wpf.2_Missense_Mutation_p.S66C|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	79						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGCCCACCTCTCCTGCCTCC	0.677000														62			18		0	0	0.004990	0	0
HNRNPK	3190	broad.mit.edu	37	9	86585225	86585225	+	Nonsense_Mutation	SNP	T	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:86585225T>A	uc004ang.4	-	15	1437	c.1213A>T	c.(1213-1215)Aaa>Taa	p.K405*	HNRNPK_uc011lsw.2_Nonsense_Mutation_p.K165*|HNRNPK_uc004and.4_Nonsense_Mutation_p.K165*|HNRNPK_uc004anf.4_Nonsense_Mutation_p.K405*|HNRNPK_uc004anh.4_Nonsense_Mutation_p.K381*|HNRNPK_uc011lsx.2_Nonsense_Mutation_p.K381*|HNRNPK_uc004anl.4_Nonsense_Mutation_p.K405*|HNRNPK_uc004anm.4_Nonsense_Mutation_p.K405*|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	405	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TGACCACCTTTGCCAATAATA	0.368000														38			20		0	0	0.001882	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968980	64968980	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr10:64968980A>T	uc001jmn.3	-	8	3010	c.2710T>A	c.(2710-2712)Tgg>Agg	p.W904R	JMJD1C_uc001jml.3_Missense_Mutation_p.W685R|JMJD1C_uc001jmm.3_Missense_Mutation_p.W616R|JMJD1C_uc010qiq.2_Missense_Mutation_p.W722R|JMJD1C_uc009xpi.3_Missense_Mutation_p.W722R|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_5'Flank	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	904					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGATGTAGCCAAGGACTGGGA	0.433000														24			18		0	0	0.006122	0	0
APOL4	80832	broad.mit.edu	37	22	36595420	36595420	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr22:36595420A>G	uc003aox.3	-	2	272	c.47T>C	c.(46-48)gTg>gCg	p.V16A	APOL4_uc003aow.3_Missense_Mutation_p.V13A|APOL4_uc010gww.3_5'UTR|APOL4_uc003aoy.3_Non-coding_Transcript	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	16					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GTTTTGCTGCACCCTTGAGGA	0.557000														87			32		0	0	0.007835	0	0
PCDH8	5100	broad.mit.edu	37	13	53418949	53418949	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:53418949A>T	uc001vhi.3	-	2	3163	c.2959T>A	c.(2959-2961)Ttc>Atc	p.F987I	PCDH8_uc001vhj.3_Missense_Mutation_p.F890I	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	987					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCTTACAGAAGGTTGACATC	0.602000														60			46		0	0	0.002522	0	0
ZBTB45	84878	broad.mit.edu	37	19	59027831	59027831	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:59027831C>G	uc002qtd.3	-	1	1502	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	ZBTB45_uc002qtf.3_Missense_Mutation_p.E404Q	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGGCTGCACTCATACGTAGGT	0.642000														31			12		0	0	0.001855	0	0
STAC2	342667	broad.mit.edu	37	17	37368584	37368584	+	Silent	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:37368584C>T	uc002hrs.3	-	10	1482	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	STAC2_uc010cvt.3_Silent_p.K257K	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	399					intracellular signal transduction		metal ion binding	p.K399M(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCAGGCCCCGCTTCTTGCCAC	0.622000														35			11		0	0	0.001368	0	0
C19orf21	126353	broad.mit.edu	37	19	757398	757398	+	Missense_Mutation	SNP	C	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:757398C>A	uc002lpo.3	+	1	535	c.452C>A	c.(451-453)gCa>gAa	p.A151E		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	151										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		CAGGGCCAGGCAGTCAGGAAG	0.687000														11			6		0.00198382	0.00866495	0.001984	1	0
WDYHV1	55093	broad.mit.edu	37	8	124448833	124448833	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr8:124448833G>T	uc003yqn.1	+	3	500	c.375G>T	c.(373-375)caG>caT	p.Q125H	WDYHV1_uc011lij.1_Missense_Mutation_p.Q65H	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	125					protein modification process	cytosol|nucleus	protein N-terminal glutamine amidohydrolase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TTCACCCACAGTTTAGGAGGT	0.358000														49			19		1.33834e-09	6.12733e-09	0.007413	1	0
CEP250	11190	broad.mit.edu	37	20	34092361	34092361	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr20:34092361A>G	uc021wco.1	+	29	6811	c.6164A>G	c.(6163-6165)cAg>cGg	p.Q2055R	CEP250_uc010zve.2_Missense_Mutation_p.Q1423R	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2055	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGACATCAGCAGGAACGGGAG	0.557000														31			14		0	0	0.001855	0	0
MYH8	4626	broad.mit.edu	37	17	10309460	10309460	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:10309460T>C	uc002gmm.2	-	20	2425	c.2330A>G	c.(2329-2331)gAa>gGa	p.E777G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	777	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTCATTTCTTCCAGAAGACC	0.413000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					45			49		0	0	0.003214	0	0
FRYL	285527	broad.mit.edu	37	4	48578146	48578146	+	Silent	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:48578146T>C	uc003gyh.1	-	23	3227	c.2622A>G	c.(2620-2622)gcA>gcG	p.A874A	FRYL_uc003gyk.3_Silent_p.A874A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACGATGTTGCTGCACTGCAGC	0.473000														62			25		0	0	0.004656	0	0
MYH13	8735	broad.mit.edu	37	17	10227379	10227379	+	Nonsense_Mutation	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:10227379A>T	uc002gmk.1	-	22	2984	c.2894T>A	c.(2893-2895)tTg>tAg	p.L965*	MYH13_uc010vve.1_Nonsense_Mutation_p.L63*	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	965					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACTTTCGTCAAGGTCAGCTC	0.463000														35			61		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179419674	179419674	+	Silent	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:179419674A>G	uc021vsy.1	-	279	81033	c.80808T>C	c.(80806-80808)gaT>gaC	p.D26936D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D20631D|TTN_uc021vta.1_Silent_p.D20564D|TTN_uc021vtb.1_Silent_p.D20439D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27863	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTAAGGCGATCGGCATCTT	0.423000														23			31		0	0	0.001512	0	0
SCAPER	49855	broad.mit.edu	37	15	76673781	76673781	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr15:76673781C>T	uc002bby.3	-	26	3702	c.3643G>A	c.(3643-3645)Gtg>Atg	p.V1215M	SCAPER_uc010bkr.3_Missense_Mutation_p.V523M|SCAPER_uc002bbx.3_Missense_Mutation_p.V969M|SCAPER_uc002bbz.1_Missense_Mutation_p.V1086M	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1214						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TGAATGGCCACTTGGATGGTA	0.443000														31			9		0	0	0.000673	0	0
EPSTI1	94240	broad.mit.edu	37	13	43463357	43463357	+	Missense_Mutation	SNP	T	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:43463357T>A	uc001uyw.1	-	11	1046	c.970A>T	c.(970-972)Agg>Tgg	p.R324W	EPSTI1_uc001uyx.1_Intron	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0								p.S323L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CTTAGGTGCCTCGAAAAAACT	0.294000														10			12		0	0	0.002450	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48713266	48713266	+	Silent	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr20:48713266T>C	uc002xva.3	-	1	159	c.114A>G	c.(112-114)gaA>gaG	p.E38E	TMEM189-UBE2V1_uc002xvf.3_Silent_p.E261E|TMEM189-UBE2V1_uc002xvb.3_Intron|TMEM189-UBE2V1_uc002xvc.3_Intron|TMEM189-UBE2V1_uc002xvd.3_Silent_p.E61E|TMEM189-UBE2V1_uc002xve.3_Silent_p.E61E	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CTTCGTCATCTTCTAGACCCC	0.443000														116			50		0	0	0.003610	0	0
GAD1	2571	broad.mit.edu	37	2	171687570	171687570	+	Silent	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:171687570C>T	uc002ugi.3	+	4	837	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	GAD1_uc002ugh.3_Silent_p.L139L	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	139					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CACCAAGGTGCTGGACTTTCA	0.547000														48			52		0	0	0.003610	0	0
ADNP	23394	broad.mit.edu	37	20	49510230	49510230	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr20:49510230A>T	uc002xvt.1	-	4	1366	c.1021T>A	c.(1021-1023)Tac>Aac	p.Y341N	ADNP_uc002xvu.1_Missense_Mutation_p.Y341N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	341						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCAACACTGTAACCCTGGCCT	0.443000														61			25		0	0	0.003954	0	0
MYH14	79784	broad.mit.edu	37	19	50764757	50764757	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:50764757A>G	uc010enu.1	+	20	2497	c.2450A>G	c.(2449-2451)aAc>aGc	p.N817S	MYH14_uc002prq.1_Missense_Mutation_p.N784S|MYH14_uc002prr.1_Missense_Mutation_p.N776S	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	776	IQ.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGACCCCAACCTCTACCGC	0.632000														37			14		0	0	0.007413	0	0
COL14A1	7373	broad.mit.edu	37	8	121237425	121237425	+	Silent	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr8:121237425A>T	uc003yox.3	+	14	2101	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	COL14A1_uc003yoy.3_Silent_p.S290S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	612	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGACAGTCAGAGCCTCTGA	0.418000														46			16		0	0	0.004007	0	0
PNCK	139728	broad.mit.edu	37	X	152937464	152937464	+	Silent	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chrX:152937464A>T	uc011myu.2	-	4	720	c.534T>A	c.(532-534)ggT>ggA	p.G178G	PNCK_uc011myt.2_Silent_p.G112G|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Silent_p.G122G|PNCK_uc011myw.2_Silent_p.G122G	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	95	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCTCGCCACCCGTCACCC	0.657000														8			9		0	0	0.006214	0	0
AHNAK	79026	broad.mit.edu	37	11	62288080	62288080	+	Missense_Mutation	SNP	T	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr11:62288080T>G	uc001ntl.3	-	4	14109	c.13809A>C	c.(13807-13809)aaA>aaC	p.K4603N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4603					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGGACCTTTCAGATTCA	0.507000														159			4		0	0	0.000602	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738291	110738291	+	Missense_Mutation	SNP	T	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:110738291T>A	uc009wfq.3	+	9	2037	c.1576T>A	c.(1576-1578)Tac>Aac	p.Y526N		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	526					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGATGACTACTCGGCCAC	0.537000														36			31		0	0	0.007291	0	0
AGAP2	116986	broad.mit.edu	37	12	58120789	58120789	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr12:58120789C>T	uc001spq.3	-	17	3304	c.3304G>A	c.(3304-3306)Gcc>Acc	p.A1102T	AGAP2_uc001spp.3_Missense_Mutation_p.A1101T|AGAP2_uc001spr.3_Missense_Mutation_p.A746T|LOC100130776_uc001sps.4_Missense_Mutation_p.A5V	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	1102					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ACGACGTGGGCGAGCTCGGCC	0.647000											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			6		0	0	0.001168	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801068	185801068	+	Silent	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:185801068A>G	uc002uph.3	+	3	1539	c.945A>G	c.(943-945)caA>caG	p.Q315Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	315						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCAAGTTTCAACTTCAGTTAT	0.333000														22			40		0	0	0.004878	0	0
XYLT1	64131	broad.mit.edu	37	16	17252766	17252766	+	Splice_Site	SNP	C	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr16:17252766C>G	uc002dfa.3	-	6	1375	c.1290_splice	c.e6-1	p.R430_splice		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	430					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCATTTGTCCTGTGGAAAC	0.498000														47			55		0	0	0.003610	0	0
ACCS	84680	broad.mit.edu	37	11	44105011	44105011	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr11:44105011T>C	uc009yks.1	+	13	1436	c.1292T>C	c.(1291-1293)cTc>cCc	p.L431P	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.L431P	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	431							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GAAATGCTGCTCTGGCGCCGC	0.567000														49			11		0	0	0.001368	0	0
HNF1A	6927	broad.mit.edu	37	12	121437343	121437343	+	Nonsense_Mutation	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr12:121437343C>T	uc001tzg.3	+	8	1704	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	HNF1A_uc010szn.2_Nonsense_Mutation_p.Q568*|HNF1A_uc021rfa.1_Nonsense_Mutation_p.Q592*|HNF1A_uc021rfb.1_Nonsense_Mutation_p.Q433*|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	561					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCGGCATCTCAGGCCACCAC	0.701000									Hepatic Adenoma, Familial Clustering of					19			10		0	0	0.006214	0	0
FRYL	285527	broad.mit.edu	37	4	48578147	48578147	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:48578147G>T	uc003gyh.1	-	23	3226	c.2621C>A	c.(2620-2622)gCa>gAa	p.A874E	FRYL_uc003gyk.3_Missense_Mutation_p.A874E	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CGATGTTGCTGCACTGCAGCA	0.468000														63			25		2.79863e-10	1.31294e-09	0.004656	1	0
EPSTI1	94240	broad.mit.edu	37	13	43463356	43463356	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:43463356C>T	uc001uyw.1	-	11	1047	c.971G>A	c.(970-972)aGg>aAg	p.R324K	EPSTI1_uc001uyx.1_Intron	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0								p.S323L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CCTTAGGTGCCTCGAAAAAAC	0.294000														10			12		0	0	0.002450	0	0
HIST1H3A	8350	broad.mit.edu	37	6	26021008	26021008	+	Silent	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr6:26021008C>T	uc003nfp.1	+	0	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C	HIST1H1A_uc003nfo.3_5'Flank|HIST1H4A_uc003nfq.3_5'Flank	NM_003529	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3a (HIST1H3A), mRNA.	97					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGGAGGCGTGCGAGGCCTACT	0.587000														38			12		0	0	0.001855	0	0
CCDC70	83446	broad.mit.edu	37	13	52439743	52439743	+	RNA	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:52439743C>T	uc010tgr.1	-	0		c.477G>A			CCDC70_uc001vfu.4_Missense_Mutation_p.H77Y|CCDC70_uc021rjv.1_Missense_Mutation_p.H77Y			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AGGCAAGATCCATGCTTTCCG	0.463000														55			45		0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48578148	48578148	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:48578148C>T	uc003gyh.1	-	23	3225	c.2620G>A	c.(2620-2622)Gca>Aca	p.A874T	FRYL_uc003gyk.3_Missense_Mutation_p.A874T	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATGTTGCTGCACTGCAGCAA	0.468000														63			23		0	0	0.003330	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														32			7		0	0	0.003080	0	0
GREB1	9687	broad.mit.edu	37	2	11758729	11758729	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:11758729A>G	uc002rbk.1	+	21	4028	c.3728A>G	c.(3727-3729)cAg>cGg	p.Q1243R	GREB1_uc002rbp.1_Missense_Mutation_p.Q241R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1243						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGGGTCCTGCAGGCCTCCCAG	0.652000														41			3		0	0	0.004672	0	0
CTNNA1	1495	broad.mit.edu	37	5	138266342	138266342	+	Splice_Site	SNP	C	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr5:138266342C>T	uc003ldh.3	+	15	2287	c.2192_splice	c.e15+1	p.R731_splice	CTNNA1_uc011cyx.2_Splice_Site_p.R628_splice|CTNNA1_uc011cyy.2_Splice_Site_p.R608_splice|CTNNA1_uc003ldi.3_Splice_Site_p.R429_splice|CTNNA1_uc003ldj.3_Splice_Site_p.R731_splice|CTNNA1_uc003ldl.3_Splice_Site_p.R361_splice	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	731					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	p.R731R(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGACTTTACCCGGTGAGCAGC	0.582000														99			65		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179650834	179650834	+	Missense_Mutation	SNP	G	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:179650834G>C	uc021vsy.1	-	13	2336	c.2111C>G	c.(2110-2112)aCa>aGa	p.T704R	TTN_uc021vsz.1_Missense_Mutation_p.T658R|TTN_uc021vta.1_Missense_Mutation_p.T658R|TTN_uc021vtb.1_Missense_Mutation_p.T658R|TTN_uc002unb.2_Missense_Mutation_p.T704R|TTN_uc010frg.1_Missense_Mutation_p.T286R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	704							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAACAACTGTTGCTACAGC	0.493000														37			46		0	0	0.003610	0	0
CNTLN	54875	broad.mit.edu	37	9	17332674	17332674	+	Silent	SNP	G	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:17332674G>A	uc003zmz.2	+	9	1616	c.1590G>A	c.(1588-1590)aaG>aaA	p.K530K	CNTLN_uc003zmy.3_Silent_p.K530K|CNTLN_uc010mio.3_Silent_p.K209K	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	530						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCTACAGAAGCTGAGAAAAG	0.378000														45			15		0	0	0.003163	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305491	136305491	+	Missense_Mutation	SNP	G	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:136305491G>C	uc004cdv.4	+	15	2257	c.1813G>C	c.(1813-1815)Gtg>Ctg	p.V605L	ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.V605L|ADAMTS13_uc004cdu.1_Missense_Mutation_p.V574L|ADAMTS13_uc004cdw.4_Missense_Mutation_p.V605L|ADAMTS13_uc004cdx.4_Missense_Mutation_p.V574L|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.V275L|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Missense_Mutation_p.V130L	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	605	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCGCTATGTCGTGGCTGGGAA	0.627000														38			23		0	0	0.003954	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136275	40136275	+	Missense_Mutation	SNP	A	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr11:40136275A>C	uc021qgf.1	-	0	1568	c.1568T>G	c.(1567-1569)aTg>aGg	p.M523R	LRRC4C_uc001mxc.1_Missense_Mutation_p.M519R|LRRC4C_uc001mxd.1_Missense_Mutation_p.M519R|LRRC4C_uc001mxa.1_Missense_Mutation_p.M523R|LRRC4C_uc001mxb.1_Missense_Mutation_p.M519R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	523					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTAGTCTTCATGACCTCATC	0.478000														66			23		0	0	0.003954	0	0
C3	718	broad.mit.edu	37	19	6709834	6709834	+	Missense_Mutation	SNP	T	G	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:6709834T>G	uc002mfm.3	-	13	1768	c.1706A>C	c.(1705-1707)cAg>cCg	p.Q569P		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	569					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTCTTCTGACTGGCCGCTTTT	0.637000														44			17		0	0	0.004007	0	0
RUFY4	285180	broad.mit.edu	37	2	218938568	218938568	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:218938568A>T	uc010fvl.2	+	7	1078	c.560A>T	c.(559-561)cAg>cTg	p.Q187L	RUFY4_uc002vgw.3_Missense_Mutation_p.Q14L	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	187							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCCAAACCCAGGGAAGGAGA	0.562000											OREG0015195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			9		0	0	0.000673	0	0
ADARB1	104	broad.mit.edu	37	21	46596347	46596347	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr21:46596347G>A	uc002zgy.2	+	3	1166	c.731G>A	c.(730-732)cGc>cAc	p.R244H	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.R244H|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.R244H|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.R244H|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.R293H	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	244	DRBM 2.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AACGAACTGCGCCCAGGACTC	0.587000														64			41		0	0	0.007835	0	0
FCER2	2208	broad.mit.edu	37	19	7755293	7755293	+	Splice_Site	SNP	T	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:7755293T>A	uc002mhn.3	-	9	838	c.621_splice	c.e9+1	p.Q207_splice	FCER2_uc021unx.1_Splice_Site_p.Q206_splice|FCER2_uc002mhm.2_Splice_Site_p.Q207_splice|FCER2_uc010xjt.2_Splice_Site_p.Q129_splice	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	207	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCAGCCCACCTGCTCCTCCGG	0.667000														51			25		0	0	0.002780	0	0
SLC39A8	64116	broad.mit.edu	37	4	103225511	103225511	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:103225511T>C	uc003hwb.1	-	4	1332	c.803A>G	c.(802-804)cAt>cGt	p.H268R	SLC39A8_uc011ceo.1_Missense_Mutation_p.H268R|SLC39A8_uc003hwa.1_Missense_Mutation_p.H201R|SLC39A8_uc003hwc.2_Missense_Mutation_p.H268R	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	268						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAAATGGATATGTCCATTAGC	0.363000														39			20		0	0	0.001523	0	0
ADCY1	107	broad.mit.edu	37	7	45747951	45747951	+	Silent	SNP	T	C	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr7:45747951T>C	uc003tne.4	+	17	2838	c.2820T>C	c.(2818-2820)gcT>gcC	p.A940A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	940			A -> T (in dbSNP:rs45444695).		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACACCTAGGCTAAGAAGTCCA	0.522000														44			46		0	0	0.003214	0	0
F5	2153	broad.mit.edu	37	1	169510915	169510916	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:169510915_169510916insTT	uc001ggg.1	-	12	3557_3558	c.3412_3413insAA	c.(3412-3414)atgfs	p.M1138fs		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1138	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGTAGAGTGCATTTGATCAGGG	0.480													---	201	---	---	80	---					
RC3H1	149041	broad.mit.edu	37	1	173916659	173916660	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:173916659_173916660delGT	uc010pmt.2	-	13	2671_2672	c.2584_2585delAC	c.(2584-2586)accfs	p.T862fs	RC3H1_uc001gju.4_Frame_Shift_Del_p.T862fs|RC3H1_uc010pms.2_Frame_Shift_Del_p.T862fs|RC3H1_uc001gjv.3_Frame_Shift_Del_p.T862fs	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	862					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATCATCACTGGTTTCTGCTGCT	0.450													---	102	---	---	29	---					
GREB1	9687	broad.mit.edu	37	2	11706688	11706688	+	Frame_Shift_Del	DEL	G	-	-			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:11706688delG	uc002rbk.1	+	3	660	c.360delG	c.(358-360)gtgfs	p.V120fs	GREB1_uc002rbl.3_Frame_Shift_Del_p.V120fs|GREB1_uc002rbm.3_Frame_Shift_Del_p.V10fs|GREB1_uc002rbn.1_Frame_Shift_Del_p.V120fs	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	120						integral to membrane		p.V120A(1)|p.V120M(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCTCCTCGTGGGGGTCAAGT	0.597													---	96	---	---	41	---					
BPHL	670	broad.mit.edu	37	6	3123907	3123927	+	In_Frame_Del	DEL	GCCAAAGTGGCTGTGAATGGC	-	-	rs148622332	byFrequency	TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr6:3123907_3123927delGCCAAAGTGGCTGTGAATGGC	uc003mva.3	+	1	173_193	c.124_144delGCCAAAGTGGCTGTGAATGGC	c.(124-144)gccaaagtggctgtgaatggcdel	p.AKVAVNG42del	BPHL_uc003muz.3_Non-coding_Transcript|BPHL_uc011dht.2_Non-coding_Transcript|BPHL_uc003muy.3_In_Frame_Del_p.AKVAVNG25del	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA.	42					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GGTAACCTCTGCCAAAGTGGCTGTGAATGGCGTTCAGCTGC	0.475													---	110	---	---	9	---					
RPL10A	4736	broad.mit.edu	37	6	35437266	35437267	+	Frame_Shift_Ins	INS	-	A	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr6:35437266_35437267insA	uc003okp.1	+	3	304_305	c.270_271insA	c.(268-273)ctgaaafs	p.L90fs	RPL10A_uc003oks.1_Frame_Shift_Ins_p.L6fs	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	90					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						TCGAGGCGCTGAAAAAACTCAA	0.550													---	31	---	---	12	---					
NLK	51701	broad.mit.edu	37	17	26459690	26459690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:26459690delT	uc010crj.3	+	2	845	c.633delT	c.(631-633)tatfs	p.Y211fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	211	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding	p.M210I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACATTGACTATTTTGAAGAAA	0.353													---	31	---	---	9	---					
