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
ZNF532	55205	broad.mit.edu	37	18	56648784	56648784	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:56648784C>T	ENST00000336078.4	+	10	4122	c.3346C>T	c.(3346-3348)Cct>Tct	p.P1116S	ZNF532_ENST00000591230.1_Missense_Mutation_p.P1116S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1116S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1116S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1116S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CATCAAGGACCCTGACCTGAA	0.463000													16	70					0	0	0.000308642	0	0
CNST	163882	broad.mit.edu	37	1	246810596	246810596	+	Missense_Mutation	SNP	T	T	C	rs143401878		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:246810596T>C	ENST00000366513.4	+	9	1362	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.C365R	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	365					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGAGCTGCTCTGCAGCGCTGA	0.597000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	64					0	0	0.000132358	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	C	T	rs149614119	by1000genomes	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:143747706C>T	ENST00000408906.2	+	1	246	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000													22	65					0	0	0.000229342	0	0
EPHA6	285220	broad.mit.edu	37	3	97167475	97167475	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:97167475C>T	ENST00000389672.5	+	7	1833	c.1795C>T	c.(1795-1797)Ctt>Ttt	p.L599F	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	504						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATCACAGGTCTTAAGCCAGC	0.448000													6	79					0	0	3.59834e-05	0	0
SLC4A9	83697	broad.mit.edu	37	5	139743728	139743728	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:139743728G>A	ENST00000230993.6	+	10	1451	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SLC4A9_ENST00000506545.1_Silent_p.T448T|SLC4A9_ENST00000507527.1_Silent_p.T472T|SLC4A9_ENST00000506757.2_Silent_p.T448T|SLC4A9_ENST00000432095.2_Silent_p.T437T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	472	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGCACGGGGCCAGTGC	0.617000													5	26					0	0	1.23904e-05	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041754	54041754	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:54041754T>A	ENST00000185150.4	+	12	1432	c.1301T>A	c.(1300-1302)cTa>cAa	p.L434Q	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L380Q	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	434					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACTGTAAAACTAAAGTAAGTT	0.313000													7	34					0	0	0.000274275	0	0
LYRM1	57149	broad.mit.edu	37	16	20926983	20926983	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:20926983G>A	ENST00000396052.2	+	4	506	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	LYRM1_ENST00000562740.1_Intron|LYRM1_ENST00000568663.1_Missense_Mutation_p.E36K|LYRM1_ENST00000439021.1_Missense_Mutation_p.E36K|LYRM1_ENST00000219168.4_Missense_Mutation_p.E36K|LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000569023.1_Missense_Mutation_p.E36K|LYRM1_ENST00000567954.1_Missense_Mutation_p.E36K			O43325	LYRM1_HUMAN	LYR motif containing 1	36						nucleus				large_intestine(1)|prostate(1)	2						CACCATCAAAGAAAAACAGTA	0.473000													6	90					0	0	3.59834e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152501270	152501270	+	Splice_Site	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:152501270C>T	ENST00000367255.5	-	129	24062		c.e129+1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTCCATACCTTCTTGAGC	0.383000										HNSCC(10;0.0054)			10	55					0	0	2.17888e-05	0	0
PSG8	440533	broad.mit.edu	37	19	43259419	43259419	+	Splice_Site	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:43259419C>T	ENST00000404209.4	-	4	806		c.e4-1		PSG8_ENST00000401467.2_Splice_Site|PSG8_ENST00000306511.4_Splice_Site|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Splice_Site	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCAGCTTCGCTGTGTGGATA	0.483000													35	178					0	0	8.96297e-05	0	0
CCRL2	9034	broad.mit.edu	37	3	46450311	46450311	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:46450311C>T	ENST00000399036.3	+	2	1093	c.741C>T	c.(739-741)ttC>ttT	p.F247F	ACKR5_ENST00000357392.4_Silent_p.F259F|ACKR5_ENST00000400882.2_Silent_p.F247F|ACKR5_ENST00000400880.3_Silent_p.F247F	NM_003965.4	NP_003956.2																					TGGTAGTCTTCCTTCTGATGT	0.403000													23	292					0	0	0.000184323	0	0
TRPC5	7224	broad.mit.edu	37	X	111020090	111020090	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:111020090C>T	ENST00000262839.2	-	11	3291	c.2373G>A	c.(2371-2373)cgG>cgA	p.R791R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGATTTGGCCCGAGCCCCAC	0.483000													18	100					0	0	0.000132079	0	0
CPT1C	126129	broad.mit.edu	37	19	50216782	50216782	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:50216782G>A	ENST00000392518.4	+	20	2704	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	CPT1C_ENST00000598293.1_Missense_Mutation_p.E778K|CPT1C_ENST00000323446.5_Missense_Mutation_p.E778K|CPT1C_ENST00000354199.5_Missense_Mutation_p.E689K|CPT1C_ENST00000405931.2_Missense_Mutation_p.E767K	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	778					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GTCAGGGAAGGAGAACTCCAG	0.607000													13	79					0	0	0.000151284	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120938	38120938	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:38120938G>A	ENST00000406386.3	+	7	2630	c.2375G>A	c.(2374-2376)aGa>aAa	p.R792K	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	792					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAACCCCAGAACATCCTGT	0.537000													6	50					0	0	3.59834e-05	0	0
NAV1	89796	broad.mit.edu	37	1	201780773	201780773	+	Silent	SNP	C	C	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:201780773C>A	ENST00000367296.4	+	25	5260	c.4840C>A	c.(4840-4842)Cgg>Agg	p.R1614R	NAV1_ENST00000367302.1_Silent_p.R1567R|NAV1_ENST00000367300.3_Silent_p.R1554R|NAV1_ENST00000367297.4_Silent_p.R1606R|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.R1220R|NAV1_ENST00000295624.6_Silent_p.R1611R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1614					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCAGATAGACCGGGAAACAGG	0.517000													9	187					0.000274275	0.00719485	0.000274275	1	0
SLC38A4	55089	broad.mit.edu	37	12	47186763	47186763	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:47186763C>T	ENST00000447411.1	-	2	298	c.92G>A	c.(91-93)gGa>gAa	p.G31E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G31E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	31					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCTGAATTTCCTATCCCGAT	0.428000													8	174					0	0	0.000274275	0	0
F13A1	2162	broad.mit.edu	37	6	6318852	6318852	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:6318852G>A	ENST00000264870.3	-	2	311	c.46C>T	c.(46-48)Cca>Tca	p.P16S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	16					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTATTGGGTGGAACTGCTCTT	0.498000													49	146					0	0	0.000147903	0	0
ZNF646	9726	broad.mit.edu	37	16	31087904	31087904	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:31087904C>T	ENST00000394979.2	+	1	682	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	ZNF646_ENST00000300850.5_Missense_Mutation_p.P87S			O15015	ZN646_HUMAN	zinc finger protein 646	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTCTCCAATCCCATGGCTCT	0.637000													11	35					0	0	3.86212e-05	0	0
NIPBL	25836	broad.mit.edu	37	5	36986309	36986309	+	Silent	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:36986309T>C	ENST00000282516.8	+	10	3526	c.3027T>C	c.(3025-3027)tcT>tcC	p.S1009S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.S1009S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1009					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAAACTGTCTTTGGATGATG	0.333000													44	249					0	0	0.000147903	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956858	33956858	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:33956858T>A	ENST00000361328.3	+	6	1153	c.1000T>A	c.(1000-1002)Ttc>Atc	p.F334I	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.F280I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	334					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GACCAAGACTTTCCTGGCAAT	0.522000													7	81					0	0	8.12818e-05	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784417	15784417	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:15784417G>A	ENST00000550308.1	+	2	458	c.78G>A	c.(76-78)gtG>gtA	p.V26V	CYP4F12_ENST00000324632.9_Silent_p.V26V	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCTGGTTGTGGGCTCCTGGC	0.632000													9	105					0	0	2.17888e-05	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366759	69366759	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:69366759C>T	ENST00000433211.1	-	3	322	c.148G>A	c.(148-150)Gga>Aga	p.G50R	CTNNA3_ENST00000373744.4_Missense_Mutation_p.G50R|CTNNA3_ENST00000545309.1_Missense_Mutation_p.G50R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	50					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCGAACGTCCTTTTTTCCTG	0.408000													10	68					0	0	3.86212e-05	0	0
DNTT	1791	broad.mit.edu	37	10	98087355	98087355	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:98087355G>A	ENST00000419175.1	+	7	1175	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	DNTT_ENST00000371174.2_Silent_p.R335R	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	335	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAGGGTTCCGGAGGTAAATAA	0.547000													11	136					0	0	0.000308642	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539511	27539511	+	RNA	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:27539511G>A	ENST00000574842.1	+	0	780																											ACGCTCCGTAGGATGACATGG	0.562000													7	53					0	0	8.12818e-05	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908431	139908431	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:139908431C>T	ENST00000297183.6	+	29	6024	c.5900C>T	c.(5899-5901)cCt>cTt	p.P1967L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1967L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1967L|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P350L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGTGTGCCTAAGACAAGT	0.502000													26	131					0	0	7.16444e-05	0	0
KSR2	283455	broad.mit.edu	37	12	117964911	117964911	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:117964911G>A	ENST00000425217.1	-	13	1783	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.P303S|KSR2_ENST00000339824.5_Missense_Mutation_p.P606S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	606					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAAGTAATGGATTTCCTTCC	0.438000													33	181					0	0	0.000228196	0	0
MUC16	94025	broad.mit.edu	37	19	9009653	9009653	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:9009653C>T	ENST00000397910.4	-	39	39276	c.39073G>A	c.(39073-39075)Ggg>Agg	p.G13025R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13027	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCTCCCCATACTGCAGA	0.552000													12	75					0	0	6.40141e-05	0	0
EPG5	57724	broad.mit.edu	37	18	43535055	43535055	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:43535055C>T	ENST00000282041.5	-	2	347	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	105					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTCCCCCTTCCTTTGGGGGC	0.498000													15	59					0	0	0.000422831	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325760	37325760	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:37325760C>T	ENST00000262825.5	+	6	846	c.629C>T	c.(628-630)gCc>gTc	p.A210V	CSF2RB_ENST00000406230.1_Missense_Mutation_p.A210V|CSF2RB_ENST00000403662.3_Missense_Mutation_p.A210V|CSF2RB_ENST00000536485.1_Missense_Mutation_p.A151V	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	210	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACCTACGTGGCCCGAGTACGG	0.657000													9	25					0	0	2.17888e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152686086	152686086	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:152686086G>A	ENST00000367255.5	-	63	10642	c.10041C>T	c.(10039-10041)gtC>gtT	p.V3347V	SYNE1_ENST00000341594.5_Silent_p.V3386V|SYNE1_ENST00000448038.1_Silent_p.V3354V|SYNE1_ENST00000265368.4_Silent_p.V3347V|SYNE1_ENST00000423061.1_Silent_p.V3354V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3347					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATTCTGAAGGACAGATTCTC	0.433000										HNSCC(10;0.0054)			15	63					0	0	0.000308642	0	0
POTEA	340441	broad.mit.edu	37	8	43211927	43211927	+	RNA	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:43211927G>A	ENST00000522175.2	+	0	1250							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAAATCCAGGATGCAGTTA	0.363000													10	68					0	0	0.000151284	0	0
KCTD5	54442	broad.mit.edu	37	16	2732753	2732753	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:2732753C>T	ENST00000301738.4	+	1	278	c.204C>T	c.(202-204)tcC>tcT	p.S68S	KCTD5_ENST00000564195.1_Silent_p.S68S	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	68	BTB.				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						ACCCGAAATCCTTCCTGTACC	0.682000													5	68					0	0	3.59834e-05	0	0
OR4A15	81328	broad.mit.edu	37	11	55135894	55135894	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:55135894G>A	ENST00000314706.3	+	1	535	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGCCTGGATTGGAGGCTTTCT	0.433000													35	171					0	0	0.000319135	0	0
TUBB2A	7280	broad.mit.edu	37	6	3154832	3154832	+	Silent	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:3154832G>T	ENST00000333628.3	-	4	665	c.603C>A	c.(601-603)tcC>tcA	p.S201S	TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	201					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CGTTATCAATGGAGTAGGTTT	0.592000													7	108					0.000274275	0.00719485	0.000274275	1	0
CEP76	79959	broad.mit.edu	37	18	12691399	12691399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:12691399G>A	ENST00000262127.2	-	7	1117	c.892C>T	c.(892-894)Cga>Tga	p.R298*	CEP76_ENST00000423709.2_Nonsense_Mutation_p.R223*|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	298					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTGAGGGTCGAATTTGCAAA	0.348000													15	93					0	0	7.07596e-05	0	0
KEL	3792	broad.mit.edu	37	7	142640957	142640957	+	Missense_Mutation	SNP	G	G	A	rs147489746		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:142640957G>A	ENST00000355265.2	-	14	1979	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	502					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAGGAAGCTCGATCCAAGCTG	0.547000													4	25					0	0	1.23904e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10404762	10404762	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:10404762T>C	ENST00000226207.5	-	27	3497	c.3403A>G	c.(3403-3405)Aaa>Gaa	p.K1135E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1135						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCTCTGCTTTGGCCCGGGAG	0.572000													6	45					0	0	3.59834e-05	0	0
SEPN1	57190	broad.mit.edu	37	1	26131760	26131760	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:26131760C>T	ENST00000361547.2	+	4	586	c.531C>T	c.(529-531)ttC>ttT	p.F177F	SEPN1_ENST00000374315.1_Silent_p.F143F|SEPN1_ENST00000354177.4_Silent_p.F143F	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	177						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATGGCTTCCTAGGGGTGA	0.567000													9	54					0	0	2.17888e-05	0	0
AMFR	267	broad.mit.edu	37	16	56423115	56423115	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:56423115G>T	ENST00000290649.5	-	9	1468	c.1258C>A	c.(1258-1260)Cac>Aac	p.H420N		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	420					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAAGAAGTGATTGTGTTGG	0.423000													6	90					2.0095e-06	5.41943e-05	8.12818e-05	1	0
ATXN7	6314	broad.mit.edu	37	3	63965609	63965609	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:63965609C>T	ENST00000398590.3	+	6	1071	c.518C>T	c.(517-519)tCc>tTc	p.S173F	ATXN7_ENST00000295900.6_Missense_Mutation_p.S173F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S173F|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000487717.1_Missense_Mutation_p.S173F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S28F	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	173	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CATAGCTCATCCAGCAAGCCG	0.428000													7	73					0	0	0.000274275	0	0
IGHA2	3494	broad.mit.edu	37	14	106053516	106053516	+	RNA	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:106053516C>T	ENST00000390539.2	-	0	780																											AGGTACTTCTCGCGGGGCAGC	0.647000													10	36					0	0	3.86212e-05	0	0
THSD7A	221981	broad.mit.edu	37	7	11632979	11632979	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:11632979G>A	ENST00000423059.3	-	3	1424	c.1173C>T	c.(1171-1173)acC>acT	p.T391T		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	391	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGCCTGATGGTTCGTGTCC	0.517000										HNSCC(18;0.044)			6	54					0	0	0.000157383	0	0
NSD1	64324	broad.mit.edu	37	5	176721292	176721292	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:176721292C>T	ENST00000439151.2	+	23	6968	c.6923C>T	c.(6922-6924)tCc>tTc	p.S2308F	NSD1_ENST00000347982.4_Missense_Mutation_p.S2039F|NSD1_ENST00000361032.4_Missense_Mutation_p.S2205F|NSD1_ENST00000354179.4_Missense_Mutation_p.S2039F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2308	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAATCCCAATCCTTGGTTTCC	0.577000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	57					0	0	3.59834e-05	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816662	67816662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:67816662G>A	ENST00000265686.3	+	15	1896	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.W380*	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	596					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGTGTGTCTGGGCTGCCAGGG	0.627000													11	91					0	0	3.86212e-05	0	0
AP3D1	8943	broad.mit.edu	37	19	2115260	2115260	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:2115260G>A	ENST00000355272.6	-	20	2513	c.2307C>T	c.(2305-2307)gcC>gcT	p.A769A	AP3D1_ENST00000345016.5_Silent_p.A769A|AP3D1_ENST00000356926.4_Silent_p.A678A|AP3D1_ENST00000350812.6_Silent_p.A600A	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	769					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		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)		GCTGGGCAGGGGCGATGTCCT	0.602000													6	33					0	0	3.59834e-05	0	0
RBM12	10137	broad.mit.edu	37	20	34241050	34241050	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:34241050G>A	ENST00000374114.3	-	3	2458	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.A732V|RBM12_ENST00000374104.3_Missense_Mutation_p.A732V|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	732	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGGCCCAAAGGCATTTGATCC	0.507000													22	122					0	0	0.000375601	0	0
FGD2	221472	broad.mit.edu	37	6	36981805	36981805	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:36981805G>C	ENST00000274963.8	+	6	923	c.752G>C	c.(751-753)cGt>cCt	p.R251P		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	251	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAATTCCACGTTACGAGCTG	0.647000													13	67					0	0	0.000151284	0	0
LNPEP	4012	broad.mit.edu	37	5	96349474	96349474	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:96349474C>A	ENST00000231368.5	+	12	2850	c.2158C>A	c.(2158-2160)Cct>Act	p.P720T	LNPEP_ENST00000395770.3_Missense_Mutation_p.P706T	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	720					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAAATAAATCCTTATGTTCT	0.338000													15	164					4.35082e-09	1.19009e-07	0.000175454	1	0
DPP10	57628	broad.mit.edu	37	2	116599896	116599896	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:116599896C>T	ENST00000410059.1	+	26	2846	c.2366C>T	c.(2365-2367)cCa>cTa	p.P789L	DPP10_ENST00000393147.2_Missense_Mutation_p.P793L|DPP10_ENST00000409163.1_Missense_Mutation_p.P739L|DPP10_ENST00000310323.8_Missense_Mutation_p.P782L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	789					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTGTGCTACCACAGGAACCA	0.373000													7	27					0	0	0.000274275	0	0
ABCA10	10349	broad.mit.edu	37	17	67145059	67145059	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:67145059A>C	ENST00000269081.4	-	40	5450	c.4541T>G	c.(4540-4542)tTa>tGa	p.L1514*	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1514					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACAGAGTTCTAAGAATACCTA	0.378000													17	80					0	0	0.000422831	0	0
AVPR1B	553	broad.mit.edu	37	1	206225076	206225076	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:206225076G>A	ENST00000367126.4	+	1	1101	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	212					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCTGCCGGTGACCATGCTCA	0.617000													14	67					0	0	0.000308642	0	0
PPARA	5465	broad.mit.edu	37	22	46594477	46594477	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:46594477C>T	ENST00000396000.2	+	3	462	c.197C>T	c.(196-198)tCg>tTg	p.S66L	PPARA_ENST00000402126.1_Missense_Mutation_p.S66L|PPARA_ENST00000262735.5_Missense_Mutation_p.S66L|PPARA_ENST00000434345.2_Missense_Mutation_p.S66L|PPARA_ENST00000407236.1_Missense_Mutation_p.S66L			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	66					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCAGATGGCTCGGTCATCACG	0.398000													6	84					0	0	0.000157383	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939501	43939501	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:43939501C>T	ENST00000282406.4	+	15	2549	c.2439C>T	c.(2437-2439)acC>acT	p.T813T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	813	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCAAACCCACCATGAAGGGAT	0.488000													31	220					0	0	0.000409698	0	0
PCLO	27445	broad.mit.edu	37	7	82582497	82582497	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:82582497G>A	ENST00000423517.2	-	5	8109	c.7772C>T	c.(7771-7773)aCt>aTt	p.T2591I	PCLO_ENST00000333891.8_Missense_Mutation_p.T2591I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2522					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						ATCTGTTGGAGTCCCTGGTTC	0.448000													13	191					0	0	0.000219431	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													4	67					0	0	3.59834e-05	0	0
PER2	8864	broad.mit.edu	37	2	239180104	239180104	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:239180104G>A	ENST00000254657.3	-	6	900	c.621C>T	c.(619-621)atC>atT	p.I207I	PER2_ENST00000440245.1_Silent_p.I207I|PER2_ENST00000254658.3_Silent_p.I207I|PER2_ENST00000355768.2_Silent_p.I207I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	207	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTGGTCAGAGATGTACAGGA	0.522000													15	78					0	0	7.07596e-05	0	0
OR51L1	119682	broad.mit.edu	37	11	5020679	5020679	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:5020679G>A	ENST00000321543.1	+	1	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGAAGCTTGGGAGTTGTACTT	0.483000													39	128					0	0	0.000228196	0	0
RNF6	6049	broad.mit.edu	37	13	26789559	26789559	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:26789559G>A	ENST00000381588.4	-	5	1212	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.H154Y|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.H154Y	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	154					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	axon|cytoplasm|PML body	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)		TGATTTACGTGGATTTCCAAA	0.388000													24	91					0	0	7.16444e-05	0	0
MFSD7	84179	broad.mit.edu	37	4	680340	680340	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:680340G>A	ENST00000322224.4	-	2	588	c.275C>T	c.(274-276)tCc>tTc	p.S92F	MFSD7_ENST00000515118.1_Missense_Mutation_p.S92F|MFSD7_ENST00000503156.1_Missense_Mutation_p.S28F|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000347950.5_Missense_Mutation_p.S70F|MFSD7_ENST00000404286.2_Missense_Mutation_p.S92F			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	92					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGCCCGACGGAGTCCAGGAT	0.647000													19	43					0	0	0.000132079	0	0
OTOA	146183	broad.mit.edu	37	16	21730463	21730463	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:21730463C>T	ENST00000388958.3	+	15	1640	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	OTOA_ENST00000286149.4_Silent_p.L561L|OTOA_ENST00000388957.3_Silent_p.L223L|OTOA_ENST00000388956.4_Silent_p.L468L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	561					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGCTCTGTTCCTGTATGAGCT	0.522000													6	70					0	0	8.12818e-05	0	0
HSPA12A	259217	broad.mit.edu	37	10	118435910	118435910	+	Splice_Site	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:118435910G>A	ENST00000369209.3	-	11	1494	c.1390_splice	c.e11+1	p.R464_splice		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	464							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGATACTTACGGAGATGCTCA	0.572000													9	87					0	0	3.86212e-05	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506290	178506290	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:178506290C>T	ENST00000315475.6	+	5	1163	c.857C>T	c.(856-858)aCc>aTc	p.T286I		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)		AACAGTTCAACCCTTATCAAA	0.423000													8	87					0	0	0.000157383	0	0
LETM2	137994	broad.mit.edu	37	8	38264880	38264880	+	Splice_Site	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:38264880G>A	ENST00000379957.4	+	10	1439	c.1311_splice	c.e10-1	p.D438_splice	LETM2_ENST00000527710.1_Splice_Site_p.D224_splice|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000524874.1_Splice_Site_p.D390_splice|LETM2_ENST00000523983.2_Splice_Site_p.D391_splice|LETM2_ENST00000297720.5_Splice_Site_p.D343_splice	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	438						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GATGTTTAAGGATGAAGACTT	0.398000													5	60					0	0	1.23904e-05	0	0
CWH43	80157	broad.mit.edu	37	4	49034655	49034655	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:49034655C>T	ENST00000226432.4	+	12	1764	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CWH43_ENST00000513409.1_Silent_p.I500I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	527					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGGCGAGATCGCACCAGCCA	0.483000													23	121					0	0	0.000229342	0	0
MCTP1	79772	broad.mit.edu	37	5	94353070	94353070	+	Splice_Site	SNP	C	C	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:94353070C>A	ENST00000515393.1	-	2	838		c.e2+1		MCTP1_ENST00000429576.2_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TATGCTCTTACCTCCTCGATC	0.403000													10	143					1.08611e-07	2.93739e-06	6.40141e-05	1	0
NEK10	152110	broad.mit.edu	37	3	27173431	27173431	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:27173431G>A	ENST00000429845.2	-	35	3554	c.3192C>T	c.(3190-3192)ttC>ttT	p.F1064F	NEK10_ENST00000295720.6_Silent_p.F376F|NEK10_ENST00000383770.3_Silent_p.F319F|NEK10_ENST00000383771.4_Silent_p.F366F			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1064							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGGATTTCTTGAATCTCTCTA	0.323000													6	81					0	0	8.12818e-05	0	0
PTCD2	79810	broad.mit.edu	37	5	71648498	71648498	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:71648498G>A	ENST00000380639.5	+	9	875	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	PTCD2_ENST00000536805.1_Missense_Mutation_p.E115K|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Missense_Mutation_p.E178K|PTCD2_ENST00000543322.1_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	287										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AAATATGTTGGAAAACCTGAT	0.363000													13	38					0	0	0.00010058	0	0
GPATCH3	63906	broad.mit.edu	37	1	27217645	27217645	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:27217645G>A	ENST00000361720.5	-	7	1457	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	478						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CATAGATGGTGGAGATGAGCC	0.547000													5	32					0	0	1.23904e-05	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829127	96829127	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:96829127G>A	ENST00000371270.3	-	1	127	c.33C>T	c.(31-33)ctC>ctT	p.L11L	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	11					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCATAAAAGAGAGACACAGCA	0.453000													5	45					0	0	1.23904e-05	0	0
DGKB	1607	broad.mit.edu	37	7	14724893	14724893	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:14724893C>T	ENST00000403951.2	-	10	1225	c.806G>A	c.(805-807)gGg>gAg	p.G269E	DGKB_ENST00000258767.5_Missense_Mutation_p.G269E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G269E|DGKB_ENST00000444700.2_Missense_Mutation_p.G262E|DGKB_ENST00000406247.3_Missense_Mutation_p.G269E|DGKB_ENST00000407950.1_Missense_Mutation_p.G262E|DGKB_ENST00000402815.1_Missense_Mutation_p.G269E			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	269					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCTGCTTCCCCACGCCAAT	0.478000													10	61					0	0	0.00010058	0	0
GDF5	8200	broad.mit.edu	37	20	34022051	34022051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:34022051G>A	ENST00000374372.1	-	4	1665	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	GDF5_ENST00000374369.3_Nonsense_Mutation_p.Q388*|GDF5OS_ENST00000374375.1_Nonsense_Mutation_p.W32*			P43026	GDF5_HUMAN	growth differentiation factor 5	388					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGCTTGCCCTGGCGAGTGGCC	0.587000													17	174					0	0	9.7654e-05	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532070	16532070	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:16532070G>A	ENST00000270747.3	-	9	1680	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	515	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|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;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTGGAAGGGCAGGATAAG	0.632000													5	24					0	0	3.59834e-05	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490736	73490736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:73490736G>A	ENST00000556143.1	-	2	1201	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q161*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q161*	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	161						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTGCTTACCTGAATTTCTTCA	0.448000													20	206					0	0	0.000229342	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458255	42458255	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:42458255C>T	ENST00000262407.5	-	13	1416	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G462E|ITGA2B_ENST00000377068.3_Missense_Mutation_p.G147E	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	462					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCTGGGTATCCGTTGTCATC	0.612000													11	104					0	0	0.000151284	0	0
MFSD4	148808	broad.mit.edu	37	1	205553164	205553164	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:205553164C>T	ENST00000367147.4	+	4	865	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	MFSD4_ENST00000539267.1_Silent_p.L258L|MFSD4_ENST00000536357.1_Silent_p.L171L	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	258					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCCCTGCTTCTGTCTGCTGA	0.602000													11	59					0	0	0.000151284	0	0
DMD	1756	broad.mit.edu	37	X	31201000	31201000	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:31201000C>T	ENST00000357033.4	-	68	10035	c.9829G>A	c.(9829-9831)Gaa>Aaa	p.E3277K	DMD_ENST00000378702.4_Missense_Mutation_p.E209K|DMD_ENST00000359836.1_Missense_Mutation_p.E817K|DMD_ENST00000541735.1_Missense_Mutation_p.E817K|DMD_ENST00000474231.1_Missense_Mutation_p.E817K|DMD_ENST00000378723.3_Missense_Mutation_p.E209K|DMD_ENST00000361471.4_Missense_Mutation_p.E209K|DMD_ENST00000343523.2_Missense_Mutation_p.E817K|DMD_ENST00000378707.3_Missense_Mutation_p.E817K|DMD_ENST00000378680.2_Missense_Mutation_p.E209K|DMD_ENST00000378677.2_Missense_Mutation_p.E3273K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3277	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGGCCGCTTCGATCTCTGGC	0.527000													10	22					0	0	3.86212e-05	0	0
AACS	65985	broad.mit.edu	37	12	125609487	125609487	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:125609487C>T	ENST00000316519.6	+	12	1432	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	AACS_ENST00000316543.10_Missense_Mutation_p.S7F|AACS_ENST00000261686.6_Missense_Mutation_p.S409F|AACS_ENST00000545511.1_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	409					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACGATCCTGTCCACTGGCTCC	0.557000													6	68					0	0	8.12818e-05	0	0
LAMB2	3913	broad.mit.edu	37	3	49162318	49162318	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:49162318G>A	ENST00000418109.1	-	22	3089	c.2925C>T	c.(2923-2925)gaC>gaT	p.D975D	LAMB2_ENST00000305544.4_Silent_p.D975D|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	975	Laminin EGF-like 9.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTTGATGGGTCCCCAAAGT	0.612000													5	51					0	0	8.12818e-05	0	0
AADACL4	343066	broad.mit.edu	37	1	12726223	12726223	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:12726223C>T	ENST00000376221.1	+	4	701	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	234						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAGTTGCCATCCTTTCAGCAG	0.522000													16	162					0	0	0.000175454	0	0
CHST12	55501	broad.mit.edu	37	7	2472430	2472430	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:2472430C>T	ENST00000258711.6	+	2	291	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	52			P -> H (in dbSNP:rs3735099).		dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGCCCACGCCCGGGCCGGACA	0.642000													18	65					0	0	0.000175454	0	0
DLEC1	9940	broad.mit.edu	37	3	38141783	38141783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:38141783C>T	ENST00000308059.6	+	19	2752	c.2731C>T	c.(2731-2733)Ccc>Tcc	p.P911S	DLEC1_ENST00000346219.3_Missense_Mutation_p.P911S|DLEC1_ENST00000452631.2_Missense_Mutation_p.P911S			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	911					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCAGGTGTCTCCCTTCGACAT	0.587000													12	126					0	0	0.000219431	0	0
ERCC6	2074	broad.mit.edu	37	10	50691522	50691522	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:50691522A>G	ENST00000355832.5	-	9	1940	c.1862T>C	c.(1861-1863)tTg>tCg	p.L621S	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	621	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGATGTGATCAAAATTCCATG	0.378000								Direct reversal of damage;Nucleotide excision repair (NER)					4	85					0	0	0.00024832	0	0
KCTD8	386617	broad.mit.edu	37	4	44177029	44177029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:44177029C>T	ENST00000360029.3	-	2	1483	c.1200G>A	c.(1198-1200)tgG>tgA	p.W400*		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	400						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTGGGGGTATCCATTGTACAG	0.498000										HNSCC(17;0.042)			39	180					0	0	0.000191422	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792290	137792290	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:137792290A>C	ENST00000242375.3	+	7	861	c.819A>C	c.(817-819)aaA>aaC	p.K273N	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.K232N|AKR1D1_ENST00000432161.1_Missense_Mutation_p.K273N	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	273					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCATTCCTAAAAGCTTTAATC	0.363000													24	76					0	0	9.22233e-05	0	0
POTEA	340441	broad.mit.edu	37	8	43211928	43211928	+	RNA	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:43211928G>A	ENST00000522175.2	+	0	1251							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAATCCAGGATGCAGTTAT	0.358000													10	68					0	0	0.000151284	0	0
APOB	338	broad.mit.edu	37	2	21233505	21233505	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:21233505C>T	ENST00000233242.1	-	26	6362	c.6235G>A	c.(6235-6237)Gaa>Aaa	p.E2079K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2079	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAAATATTCTTGCAAGGTC	0.343000													53	556					0	0	0.000147903	0	0
MYH15	22989	broad.mit.edu	37	3	108110754	108110754	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:108110754C>T	ENST00000273353.3	-	38	5399	c.5343G>A	c.(5341-5343)ctG>ctA	p.L1781L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1781						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTTCTTCTTCAGTTCTTCTG	0.413000													15	125					0	0	9.7654e-05	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75378079	75378079	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:75378079A>G	ENST00000555647.1	-	7	823	c.536T>C	c.(535-537)cTa>cCa	p.L179P	RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.L148P|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.L179P|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.L179P			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	179	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCACCTGGGTAGGCTCTGGGA	0.627000													7	53					0	0	0.000274275	0	0
LRFN3	79414	broad.mit.edu	37	19	36435675	36435675	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:36435675C>T	ENST00000588831.1	+	4	2695	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	LRFN3_ENST00000246529.3_Silent_p.I547I			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	547					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGCGTCATCGTAGCCTCGG	0.677000													6	25					0	0	8.12818e-05	0	0
TULP4	56995	broad.mit.edu	37	6	158923497	158923497	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:158923497C>T	ENST00000367097.3	+	13	4159	c.2802C>T	c.(2800-2802)gtC>gtT	p.V934V	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	934					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGAAGAAGGTCCCTCAGCCCT	0.677000													9	51					0	0	2.17888e-05	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200820	23200820	+	Missense_Mutation	SNP	G	G	A	rs140901058		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:23200820G>A	ENST00000300061.2	+	3	589	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	149					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTCTCAGAGGGAAAGCAGCCT	0.577000													23	153					0	0	9.22233e-05	0	0
GLIS1	148979	broad.mit.edu	37	1	53980410	53980410	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:53980410C>T	ENST00000312233.2	-	7	1812	c.1246G>A	c.(1246-1248)Ggc>Agc	p.G416S		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	416					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCAGGAGGCCCGATGCAAGT	0.612000													7	47					0	0	0.000157383	0	0
RGS7	6000	broad.mit.edu	37	1	241099926	241099926	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:241099926C>T	ENST00000366565.1	-	5	688	c.307G>A	c.(307-309)Gat>Aat	p.D103N	RGS7_ENST00000366562.4_Missense_Mutation_p.D103N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000331110.7_Missense_Mutation_p.D77N|RGS7_ENST00000366564.1_Missense_Mutation_p.D103N|RGS7_ENST00000407727.1_Missense_Mutation_p.D103N|RGS7_ENST00000366563.1_Missense_Mutation_p.D103N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Missense_Mutation_p.D19N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	103	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGCCATCATCCTTGAGTGTG	0.398000													26	142					0	0	0.000184323	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163237	32163237	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:32163237G>T	ENST00000375023.3	-	30	6127	c.5989C>A	c.(5989-5991)Caa>Aaa	p.Q1997K	GPSM3_ENST00000375043.3_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1997					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTCCTCCTTGGTTTATGGGC	0.502000													9	265					6.40141e-05	0.00171676	6.40141e-05	1	0
ASXL3	80816	broad.mit.edu	37	18	31325110	31325110	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:31325110G>A	ENST00000269197.5	+	12	5298	c.5298G>A	c.(5296-5298)caG>caA	p.Q1766Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTTGCCACAGCCCAGATTGG	0.517000													9	37					0	0	0.000274275	0	0
ANK3	288	broad.mit.edu	37	10	61833963	61833963	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:61833963C>T	ENST00000280772.1	-	37	6867	c.6676G>A	c.(6676-6678)Gaa>Aaa	p.E2226K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2226					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATCTTCTTCACTACTGGCT	0.408000													14	113					0	0	0.000219431	0	0
NOVA1	4857	broad.mit.edu	37	14	26917851	26917851	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:26917851G>A	ENST00000539517.2	-	5	1155	c.838C>T	c.(838-840)Cca>Tca	p.P280S	NOVA1_ENST00000267422.7_Missense_Mutation_p.P158S|NOVA1_ENST00000465357.2_Missense_Mutation_p.P256S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	283	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCAGCAGTTGGTAACACTTCA	0.493000													6	75					0	0	8.12818e-05	0	0
PRDM2	7799	broad.mit.edu	37	1	14104971	14104971	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:14104971C>T	ENST00000235372.7	+	8	1537	c.681C>T	c.(679-681)ctC>ctT	p.L227L	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.L227L|PRDM2_ENST00000413440.1_Silent_p.L26L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.L26L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	227						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CGGCCACCCTCCAGGAGGTGG	0.582000													16	124					0	0	0.000308642	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566133	155566133	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:155566133G>A	ENST00000295101.2	+	2	1198	c.721G>A	c.(721-723)Ggt>Agt	p.G241S	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	241					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GACACCTGAGGGTGAGTTCCT	0.443000													10	75					0	0	0.00010058	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692974	187692974	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:187692974C>T	ENST00000295131.2	-	9	1678	c.1639G>A	c.(1639-1641)Ggc>Agc	p.G547S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	547					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATTTACAGCCTTTGGTCATC	0.393000													8	32					0	0	0.000157383	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500670	142500670	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:142500670T>G	ENST00000378004.3	+	18	2011	c.1656T>G	c.(1654-1656)ttT>ttG	p.F552L	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.F552L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	552	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCAAATTTCAGAACATTG	0.443000													18	91					0	0	5.01169e-05	0	0
FOXA3	3171	broad.mit.edu	37	19	46375598	46375598	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:46375598C>T	ENST00000302177.2	+	2	532	c.335C>T	c.(334-336)cCc>cTc	p.P112L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	112				RPL -> AP (in Ref. 1; AAA58477).	brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TATCGGCGGCCCCTGGCACAC	0.647000													13	50					0	0	0.000308642	0	0
IGLV1-44	28823	broad.mit.edu	37	22	22735666	22735666	+	RNA	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:22735666G>A	ENST00000390297.2	+	0	417																											TCCAGTCTGAGGATGAGGCTG	0.557000													7	72					0	0	0.00010058	0	0
OR4S1	256148	broad.mit.edu	37	11	48328317	48328317	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:48328317C>T	ENST00000319988.1	+	1	543	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ATGTTCATCCCCTGCTCAAGT	0.483000													14	55					0	0	0.000219431	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698517	103698517	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:103698517T>C	ENST00000245312.3	-	6	1609	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	338					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCATTTGCCTTATAAAACGA	0.358000													12	102					0	0	0.000219431	0	0
FAT4	79633	broad.mit.edu	37	4	126371967	126371967	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:126371967C>T	ENST00000394329.3	+	9	9809	c.9796C>T	c.(9796-9798)Ctt>Ttt	p.L3266F	FAT4_ENST00000335110.5_Missense_Mutation_p.L1564F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3266	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGCTACCATCTTACTGTGAA	0.423000													8	47					0	0	0.000274275	0	0
TLR4	7099	broad.mit.edu	37	9	120476865	120476865	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:120476865C>T	ENST00000355622.6	+	3	2560	c.2459C>T	c.(2458-2460)tCa>tTa	p.S820L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S780L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	820					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GATGGTAAATCATGGAATCCA	0.502000													11	86					0	0	0.000308642	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554096	140554096	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140554096C>T	ENST00000231137.3	+	1	1854	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		560	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.726000													7	55					0	0	8.12818e-05	0	0
IGHA1	3493	broad.mit.edu	37	14	106173747	106173747	+	RNA	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:106173747C>T	ENST00000390547.2	-	0	819																											AGGTACTTCTCGCGGGGCAGC	0.662000													7	49					0	0	0.000274275	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336746	115336746	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:115336746C>T	ENST00000337530.6	+	2	682	c.386C>T	c.(385-387)tCt>tTt	p.S129F	KIAA1958_ENST00000374244.3_Missense_Mutation_p.S129F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.S129F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	129										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTGAGCCCTCTGAACTGGAT	0.458000													11	63					0	0	0.00010058	0	0
PHLPP2	23035	broad.mit.edu	37	16	71697869	71697869	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:71697869G>A	ENST00000568954.1	-	13	2296	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	PHLPP2_ENST00000356272.3_Silent_p.L640L|PHLPP2_ENST00000567016.1_Silent_p.L675L|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Silent_p.L640L|PHLPP2_ENST00000393524.2_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	640						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCCCTACCAGGACAGGTATG	0.468000													14	59					0	0	0.000422831	0	0
TBX2	6909	broad.mit.edu	37	17	59485543	59485543	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:59485543C>T	ENST00000240328.3	+	7	2096	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	605					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						ccgccgGCTCCCTCTCCCGGA	0.692000													5	12					0	0	0.000157383	0	0
LRP2	4036	broad.mit.edu	37	2	170009450	170009450	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:170009450C>T	ENST00000263816.3	-	67	12605	c.12320G>A	c.(12319-12321)gGg>gAg	p.G4107E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4107					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGCCCTCCCCTCGCACAGT	0.468000													34	126					0	0	0.000109025	0	0
RXFP2	122042	broad.mit.edu	37	13	32367120	32367120	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:32367120G>A	ENST00000298386.2	+	16	1752	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	RXFP2_ENST00000380314.1_Missense_Mutation_p.D537N	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	561						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGGAATAAGGATTATTTTGG	0.368000													9	56					0	0	2.17888e-05	0	0
WDR49	151790	broad.mit.edu	37	3	167246892	167246892	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:167246892C>T	ENST00000308378.3	-	10	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	433										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343000													7	88					0	0	0.000274275	0	0
ATM	472	broad.mit.edu	37	11	108225536	108225536	+	Splice_Site	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:108225536A>G	ENST00000278616.4	+	61	9171		c.e61-1		ATM_ENST00000525178.1_Splice_Site|ATM_ENST00000452508.2_Splice_Site|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTTTGACTCTAGATGCTGTGA	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	163					0	0	0.00010058	0	0
PLXNA1	5361	broad.mit.edu	37	3	126737356	126737356	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:126737356C>T	ENST00000251772.4	+	19	3880	c.3811C>T	c.(3811-3813)Ctc>Ttc	p.L1271F	PLXNA1_ENST00000393409.2_Missense_Mutation_p.L1294F			Q9UIW2	PLXA1_HUMAN	plexin A1	1294					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCGCGTGGCCCTCGAATGCAA	0.652000													6	9					0	0	3.59834e-05	0	0
ABCD2	225	broad.mit.edu	37	12	40012962	40012962	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:40012962C>T	ENST00000308666.3	-	1	591	c.456G>A	c.(454-456)atG>atA	p.M152I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	152	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GGATGGCAATCATAAGCCACT	0.433000													9	79					0	0	2.17888e-05	0	0
SPEM1	374768	broad.mit.edu	37	17	7324290	7324290	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:7324290C>T	ENST00000323675.3	+	3	321	c.296C>T	c.(295-297)cCt>cTt	p.P99L	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	99					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ACCATGGACCCTGTGATGATG	0.592000													11	43					0	0	6.40141e-05	0	0
C1orf52	148423	broad.mit.edu	37	1	85724326	85724326	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:85724326G>A	ENST00000471115.1	-	2	364	c.356C>T	c.(355-357)cCt>cTt	p.P119L	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.P119L	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	119										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		AAGCTCTGGAGGCGGAGGCTT	0.438000													10	53					0	0	2.17888e-05	0	0
FGFR2	2263	broad.mit.edu	37	10	123239526	123239526	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:123239526C>T	ENST00000358487.5	-	18	2583	c.2311G>A	c.(2311-2313)Gac>Aac	p.D771N	FGFR2_ENST00000346997.2_Missense_Mutation_p.D769N|FGFR2_ENST00000369061.4_Missense_Mutation_p.D659N|FGFR2_ENST00000478859.1_Missense_Mutation_p.D543N|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.D772N|FGFR2_ENST00000369060.4_Missense_Mutation_p.D655N|FGFR2_ENST00000356226.4_Missense_Mutation_p.D654N|FGFR2_ENST00000369059.1_Missense_Mutation_p.D657N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	771					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGGCTGAGGTCCAAGTATTCC	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				14	109					0	0	0.000422831	0	0
SORCS3	22986	broad.mit.edu	37	10	107015523	107015523	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:107015523G>A	ENST00000369701.3	+	24	3528	c.3301G>A	c.(3301-3303)Gta>Ata	p.V1101I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1101						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAAGCCGGGGGTACAAGTCAT	0.458000													6	32					0	0	0.000274275	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453985	138453985	+	Silent	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:138453985A>G	ENST00000310018.2	-	4	411	c.129T>C	c.(127-129)aaT>aaC	p.N43N	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.N43N|ATP6V0A4_ENST00000353492.4_Silent_p.N43N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	43					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTGTTCACATTCATATTTA	0.328000													5	106					0	0	3.59834e-05	0	0
SBNO1	55206	broad.mit.edu	37	12	123810134	123810134	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:123810134C>A	ENST00000420886.2	-	14	1887	c.1888G>T	c.(1888-1890)Ggt>Tgt	p.G630C	SBNO1_ENST00000267176.4_Missense_Mutation_p.G629C|SBNO1_ENST00000602750.1_Missense_Mutation_p.G629C|SBNO1_ENST00000602398.1_Missense_Mutation_p.G630C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	630							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GACTGCAGACCAATTACAACA	0.343000													9	291					0.00010058	0.00268988	0.00010058	1	0
ZNFX1	57169	broad.mit.edu	37	20	47864578	47864578	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:47864578C>T	ENST00000396105.1	-	14	5229	c.4983G>A	c.(4981-4983)caG>caA	p.Q1661Q	ZNFX1_ENST00000371752.1_Silent_p.Q1661Q|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1661							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAAGCCGTTCCTGGCTGGTTG	0.493000													19	92					0	0	7.07596e-05	0	0
FAM160A2	84067	broad.mit.edu	37	11	6235700	6235700	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:6235700T>C	ENST00000265978.4	-	11	2898	c.2540A>G	c.(2539-2541)aAg>aGg	p.K847R	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.K833R	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	833					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGTCCAACTTGCCACGGGC	0.592000													13	113					0	0	0.000151284	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355517	45355517	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:45355517C>T	ENST00000359271.2	+	3	1553	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	435						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTGGCTTGTCCTCAGCGAGAT	0.592000													10	130					0	0	6.40141e-05	0	0
LRFN5	145581	broad.mit.edu	37	14	42357007	42357007	+	Silent	SNP	T	T	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:42357007T>A	ENST00000554171.1	+	5	3611	c.1179T>A	c.(1177-1179)ggT>ggA	p.G393G	LRFN5_ENST00000298119.4_Silent_p.G393G|LRFN5_ENST00000554120.1_Silent_p.G393G			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	393						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGATCCTGGTTCTTCAGATA	0.388000										HNSCC(30;0.082)			20	69					0	0	0.000229342	0	0
BCAT1	586	broad.mit.edu	37	12	25031517	25031517	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:25031517G>A	ENST00000261192.7	-	5	983	c.457C>T	c.(457-459)Cca>Tca	p.P153S	BCAT1_ENST00000539780.1_Missense_Mutation_p.P116S|BCAT1_ENST00000342945.5_Missense_Mutation_p.P92S|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.P165S|BCAT1_ENST00000538118.1_Missense_Mutation_p.P152S	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	153					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GTTGAATATGGGACCCATTCT	0.363000													6	60					0	0	0.000274275	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52896717	52896717	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:52896717G>A	ENST00000371544.3	-	28	4938	c.4676C>T	c.(4675-4677)tCc>tTc	p.S1559F	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S1560F	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1559	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTTTACCAGGGAATTTGGAGC	0.463000													30	115					0	0	0.000409698	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:207172439G>A	ENST00000374423.3	+	5	3573	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1063							nucleic acid binding|zinc ion binding	p.E1063*(2)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000													14	75					0	0	5.01169e-05	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290877	141290877	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:141290877G>A	ENST00000247452.3	-	3	1244	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	299	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCCACAGGAATTCATAAT	0.488000										HNSCC(46;0.14)			7	39					0	0	0.000274275	0	0
DNAH11	8701	broad.mit.edu	37	7	21745129	21745129	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:21745129G>A	ENST00000328843.6	+	40	6572	c.6541G>A	c.(6541-6543)Gga>Aga	p.G2181R	DNAH11_ENST00000409508.3_Missense_Mutation_p.G2174R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2181	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTTGTAGTTGGAAATGCAGG	0.448000									Kartagener syndrome				9	58					0	0	3.86212e-05	0	0
NUP93	9688	broad.mit.edu	37	16	56867143	56867143	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:56867143G>A	ENST00000564887.1	+	11	1622	c.993G>A	c.(991-993)acG>acA	p.T331T	NUP93_ENST00000542526.1_Silent_p.T331T|NUP93_ENST00000308159.5_Silent_p.T454T|NUP93_ENST00000569842.1_Silent_p.T454T	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	454					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCACTTTACGGTGAACCAGC	0.572000													6	117					0	0	0.000274275	0	0
MAST1	22983	broad.mit.edu	37	19	12962960	12962960	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:12962960T>C	ENST00000251472.4	+	9	947	c.908T>C	c.(907-909)cTg>cCg	p.L303P	MAST1_ENST00000591495.1_Missense_Mutation_p.L299P	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	303					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TACCACCTGCTGGAGGCGGCC	0.642000													9	52					0	0	2.17888e-05	0	0
TRIM22	10346	broad.mit.edu	37	11	5730298	5730298	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:5730298A>G	ENST00000379965.3	+	8	1194	c.917A>G	c.(916-918)aAt>aGt	p.N306S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	306	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GTGATGCTGAATCCAGGCAGT	0.393000													14	66					0	0	0.000219431	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235762	140235762	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140235762C>T	ENST00000307360.5	+	1	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	PCDHA10_ENST00000506939.2_Silent_p.F43F|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.657000													8	78					0	0	0.000274275	0	0
CDC25C	995	broad.mit.edu	37	5	137621477	137621477	+	Silent	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:137621477A>G	ENST00000323760.6	-	14	1604	c.1326T>C	c.(1324-1326)acT>acC	p.T442T	CDC25C_ENST00000415130.2_Silent_p.T369T|CDC25C_ENST00000357274.3_Silent_p.T399T|CDC25C_ENST00000348983.3_Silent_p.T369T|CDC25C_ENST00000513970.1_Silent_p.T442T|CDC25C_ENST00000514555.1_Silent_p.T412T|CDC25C_ENST00000356505.3_Silent_p.T412T	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	442					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAGCAACTCAGTCTTGTGGT	0.527000													6	99					0	0	8.12818e-05	0	0
DENND2A	27147	broad.mit.edu	37	7	140301361	140301361	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:140301361C>T	ENST00000275884.6	-	2	1254	c.837G>A	c.(835-837)ggG>ggA	p.G279G	DENND2A_ENST00000537639.1_Silent_p.G279G|DENND2A_ENST00000492720.1_Silent_p.G279G|DENND2A_ENST00000496613.1_Silent_p.G279G			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	279										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CATCTTTGTCCCCTTCTCCGG	0.582000													42	135					0	0	0.000147903	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994464	45994464	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr21:45994464A>G	ENST00000400374.3	+	1	859	c.829A>G	c.(829-831)Aag>Gag	p.K277E	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	277	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGTCTGCTGCAAGCCTGTGTG	0.622000													9	82					0	0	0.000308642	0	0
FAM71C	196472	broad.mit.edu	37	12	100042415	100042415	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:100042415C>T	ENST00000324341.1	+	1	885	c.463C>T	c.(463-465)Cca>Tca	p.P155S	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	155										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GCTGTGTCCTCCATCGGATGC	0.473000													6	50					0	0	8.12818e-05	0	0
SHISA5	51246	broad.mit.edu	37	3	48510878	48510878	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:48510878C>T	ENST00000296444.2	-	5	861	c.525G>A	c.(523-525)caG>caA	p.Q175Q	SHISA5_ENST00000443308.2_Silent_p.Q168Q|SHISA5_ENST00000444115.1_Silent_p.Q144Q|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000442747.1_Silent_p.Q144Q|SHISA5_ENST00000426002.1_Silent_p.Q72Q	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	175	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						TGTGGTAGCCCTGGTAGCTTG	0.637000													8	66					0	0	0.000157383	0	0
HCLS1	3059	broad.mit.edu	37	3	121366201	121366201	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:121366201C>T	ENST00000314583.3	-	4	344	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	HCLS1_ENST00000428394.2_Missense_Mutation_p.G85S	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	85					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCAAACCGACCTCCATAGCCA	0.483000													14	158					0	0	7.07596e-05	0	0
JAG1	182	broad.mit.edu	37	20	10639139	10639139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:10639139C>T	ENST00000254958.5	-	4	1186	c.671G>A	c.(670-672)tGg>tAg	p.W224*	JAG1_ENST00000423891.2_Nonsense_Mutation_p.W65*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	224	DSL.		W -> C (in ALGS1).		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGGGCCCATCCAGCCTTCCAT	0.507000									Alagille Syndrome				13	84					0	0	0.000219431	0	0
GRB14	2888	broad.mit.edu	37	2	165378510	165378510	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:165378510A>C	ENST00000263915.3	-	6	1334	c.796T>G	c.(796-798)Tct>Gct	p.S266A	GRB14_ENST00000543549.1_Missense_Mutation_p.S179A	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	266	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCTTTAGTAGAAAAATATAAA	0.299000													16	126					0	0	9.7654e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	57					0	0	0.000308642	0	0
DMWD	1762	broad.mit.edu	37	19	46289702	46289702	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:46289702G>A	ENST00000270223.6	-	3	1097	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I	DMWD_ENST00000377735.3_Missense_Mutation_p.T351I	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	351					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACCACACGGTGACCAGGTC	0.642000													10	65					0	0	0.00010058	0	0
TTN	7273	broad.mit.edu	37	2	179437307	179437307	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:179437307C>T	ENST00000589042.1	-	326	73776	c.73552G>A	c.(73552-73554)Gat>Aat	p.D24518N	TTN_ENST00000342175.6_Missense_Mutation_p.D15645N|TTN_ENST00000359218.5_Missense_Mutation_p.D15578N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D22877N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21950N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15453N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22877	Fibronectin type-III 78.						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)			CCTGGTGTATCGAGAACTCTA	0.418000													12	73					0	0	6.40141e-05	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208960	140208960	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140208960G>A	ENST00000529310.1	+	1	1398	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.R428R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCGCGCGGGACGGGGGCT	0.622000													9	146					0	0	2.17888e-05	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076553	134076553	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:134076553G>A	ENST00000534548.2	-	8	1021	c.957C>T	c.(955-957)gcC>gcT	p.A319A		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	319					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAGCAAGGGGGGCACGATGGG	0.423000													18	81					0	0	7.07596e-05	0	0
NLGN2	57555	broad.mit.edu	37	17	7319161	7319161	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:7319161G>A	ENST00000302926.2	+	6	1442	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	NLGN2_ENST00000575301.1_Missense_Mutation_p.D457N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	457					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCTCTTTACTGACCACCAATG	0.577000													10	35					0	0	3.86212e-05	0	0
NUP93	9688	broad.mit.edu	37	16	56867144	56867144	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:56867144G>A	ENST00000564887.1	+	11	1623	c.994G>A	c.(994-996)Gtg>Atg	p.V332M	NUP93_ENST00000542526.1_Missense_Mutation_p.V332M|NUP93_ENST00000308159.5_Missense_Mutation_p.V455M|NUP93_ENST00000569842.1_Missense_Mutation_p.V455M	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	455					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCACTTTACGGTGAACCAGCA	0.567000													6	118					0	0	0.000274275	0	0
PKD1	5310	broad.mit.edu	37	16	2153649	2153649	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:2153649G>A	ENST00000262304.4	-	23	8617	c.8409C>T	c.(8407-8409)ggC>ggT	p.G2803G	PKD1_ENST00000561991.1_Intron|PKD1_ENST00000423118.1_Silent_p.G2803G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2803	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAAGTGGCAGCCAGGCCCTG	0.672000													8	53					0	0	0.000274275	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657492	139657492	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:139657492G>A	ENST00000263552.6	+	12	1289	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TBXAS1_ENST00000411653.1_Missense_Mutation_p.E250K|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E296K|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E250K|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E250K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E251K|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E297K|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E183K|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E251K|TBXAS1_ENST00000462275.1_3'UTR	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	250					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GAACCGAGACGAACTGAATGG	0.438000													17	66					0	0	9.7654e-05	0	0
C1orf172	126695	broad.mit.edu	37	1	27278365	27278365	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:27278365G>A	ENST00000320567.5	-	2	595	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	169										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GATACACAGGGATGCCTTTGA	0.657000													6	51					0	0	8.12818e-05	0	0
IDO1	3620	broad.mit.edu	37	8	39775637	39775637	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:39775637G>A	ENST00000518237.1	+	3	853	c.214G>A	c.(214-216)Gac>Aac	p.D72N	RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.D72N	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	72					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TCATCTCACAGACCACAAGTC	0.423000													22	103					0	0	5.49717e-05	0	0
NEBL	10529	broad.mit.edu	37	10	21124516	21124516	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:21124516C>T	ENST00000377122.4	-	14	1771	c.1375G>A	c.(1375-1377)Ggg>Agg	p.G459R	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	459					regulation of actin filament length		actin binding|structural constituent of muscle			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						ATTCCTTTCCCTTTAATTATT	0.448000													19	197					0	0	0.000175454	0	0
ANTXR1	84168	broad.mit.edu	37	2	69271912	69271912	+	Missense_Mutation	SNP	G	G	A	rs141240644	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:69271912G>A	ENST00000303714.4	+	3	585	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	ANTXR1_ENST00000409349.3_Missense_Mutation_p.R88Q|ANTXR1_ENST00000409829.3_Missense_Mutation_p.R88Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	88	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCCACCCGAGGAACAACC	0.433000									Familial Infantile Hemangioma				8	74					0	0	0.000274275	0	0
HHLA3	11147	broad.mit.edu	37	1	70832184	70832184	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:70832184T>C	ENST00000370940.5	+	2	334	c.218T>C	c.(217-219)cTt>cCt	p.L73P	HHLA3_ENST00000531950.1_Silent_p.S105S|HHLA3_ENST00000359875.5_Silent_p.S105S|HHLA3_ENST00000361764.4_Silent_p.L72L|HHLA3_ENST00000432224.1_Missense_Mutation_p.L106P	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	0							protein binding			large_intestine(3)|lung(1)	4						cttggatctcttgcaagaaag	0.383000													3	12					0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179455439	179455439	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:179455439C>T	ENST00000589042.1	-	304	61237	c.61013G>A	c.(61012-61014)gGa>gAa	p.G20338E	TTN_ENST00000342175.6_Missense_Mutation_p.G11465E|TTN_ENST00000359218.5_Missense_Mutation_p.G11398E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18697E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17770E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11273E|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18697	Fibronectin type-III 47.						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)			ATATGTATTTCCTTCATAGAG	0.438000													20	111					0	0	9.7654e-05	0	0
TTLL7	79739	broad.mit.edu	37	1	84408284	84408284	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:84408284G>A	ENST00000260505.8	-	7	962	c.585C>T	c.(583-585)ttC>ttT	p.F195F	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	195	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTTCCATTAGGAAAGGCTTTT	0.328000													8	55					0	0	0.000274275	0	0
DOT1L	84444	broad.mit.edu	37	19	2216468	2216468	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:2216468G>C	ENST00000398665.3	+	20	2148	c.2112G>C	c.(2110-2112)ttG>ttC	p.L704F		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	704						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		TGCCTCACTTGAGCAGCATGA	0.667000													4	73					0	0	1.23904e-05	0	0
ACOT12	134526	broad.mit.edu	37	5	80638515	80638515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:80638515C>T	ENST00000307624.3	-	11	1132	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	ACOT12_ENST00000508234.1_Intron	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	368	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGGTAACCTCCCAACCCCTTT	0.448000													14	122					0	0	0.000422831	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418703	19418703	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:19418703C>T	ENST00000538714.1	+	8	634	c.630C>T	c.(628-630)atC>atT	p.I210I	PLEKHA5_ENST00000299275.6_Silent_p.I210I|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000309364.4_Silent_p.I210I|PLEKHA5_ENST00000355397.3_Silent_p.I210I|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Silent_p.I102I|PLEKHA5_ENST00000359180.3_Silent_p.I210I|PLEKHA5_ENST00000424268.1_Silent_p.I102I|PLEKHA5_ENST00000317589.4_Silent_p.I210I|PLEKHA5_ENST00000429027.2_Silent_p.I210I	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	210	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGAGGGTATCCTGGGAAGCA	0.318000													26	168					0	0	0.000339439	0	0
STAG2	10735	broad.mit.edu	37	X	123200028	123200028	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:123200028C>T	ENST00000371160.1	+	22	2390	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A	STAG2_ENST00000371144.3_Silent_p.A700A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Silent_p.A631A|STAG2_ENST00000371157.3_Silent_p.A700A|STAG2_ENST00000218089.9_Silent_p.A700A|STAG2_ENST00000371145.3_Silent_p.A700A			Q8N3U4	STAG2_HUMAN	stromal antigen 2	700					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttACAGTGCCCATGACCTTT	0.299000													12	45					0	0	6.40141e-05	0	0
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:42299711C>T	ENST00000396169.2	-	5	1132	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_ENST00000334681.5_Missense_Mutation_p.R76Q|CCK_ENST00000434608.1_Missense_Mutation_p.R76Q	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517000													6	63					0	0	8.12818e-05	0	0
PDE1A	5136	broad.mit.edu	37	2	183066494	183066494	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:183066494C>T	ENST00000435564.1	-	9	1173	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	PDE1A_ENST00000351439.5_Missense_Mutation_p.E309K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E291K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E221K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E325K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E325K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E325K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E309K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E325K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	325	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAACCATTTCAATCACTAGG	0.373000													5	50					0	0	1.23904e-05	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670038	44670038	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:44670038G>A	ENST00000454036.1	+	8	1070	c.994G>A	c.(994-996)Gga>Aga	p.G332R	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCTTGGGAAGGAAATGAGAC	0.552000													13	58					0	0	0.000219431	0	0
SMAD5	4090	broad.mit.edu	37	5	135489586	135489586	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:135489586A>G	ENST00000545279.1	+	3	497	c.137A>G	c.(136-138)aAg>aGg	p.K46R	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.K46R	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	46	MH1.|Poly-Lys.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAAAGAAAAAGGGTGCCATG	0.473000													4	79					0	0	0.00024832	0	0
XKR9	389668	broad.mit.edu	37	8	71619239	71619239	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:71619239A>G	ENST00000408926.3	+	4	878	c.344A>G	c.(343-345)gAa>gGa	p.E115G	XKR9_ENST00000520030.1_Missense_Mutation_p.E115G|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	115						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AACTTCGTGGAAGAACAAATT	0.353000													9	48					0	0	2.17888e-05	0	0
COL19A1	1310	broad.mit.edu	37	6	70851968	70851968	+	Splice_Site	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:70851968G>T	ENST00000322773.4	+	22	1674	c.1572_splice	c.e22+1	p.K524_splice	COL19A1_ENST00000393344.1_Splice_Site_p.K146_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	524	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGGACTAAAGGTATATAAGA	0.398000													7	28					1.76689e-08	4.8193e-07	2.17888e-05	1	0
LRWD1	222229	broad.mit.edu	37	7	102109094	102109094	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:102109094C>T	ENST00000292616.5	+	8	1165	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	338					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TACAAGGCACCCGGCGAGGTG	0.662000													3	5					0	0	0.00024832	0	0
SEMG1	6406	broad.mit.edu	37	20	43836284	43836284	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:43836284C>T	ENST00000372781.3	+	2	403	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	SEMG1_ENST00000244069.6_Missense_Mutation_p.H116Y	NM_003007.3	NP_002998.1			semenogelin I									p.H116Y(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGCAGAGACCATGATAAATC	0.403000													11	47					0	0	6.40141e-05	0	0
PDE6G	5148	broad.mit.edu	37	17	79618115	79618115	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:79618115C>T	ENST00000573076.1	-	4	878	c.403G>A	c.(403-405)Ggc>Agc	p.G135S	PDE6G_ENST00000331056.5_Missense_Mutation_p.G85S|PDE6G_ENST00000571224.1_Missense_Mutation_p.G85S|PDE6G_ENST00000571004.1_Missense_Mutation_p.G85S|PDE6G_ENST00000574777.1_5'UTR			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	85					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TAGATGATGCCATATTGGGCC	0.592000													6	73					0	0	3.59834e-05	0	0
FAM171A1	221061	broad.mit.edu	37	10	15262951	15262951	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:15262951G>A	ENST00000378116.4	-	6	869	c.863C>T	c.(862-864)cCc>cTc	p.P288L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	288						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACCTGGGATGGGAGGGGACAT	0.552000													13	128					0	0	0.000422831	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44486602	44486602	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:44486602C>T	ENST00000255152.2	+	1	347	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ZSWIM3_ENST00000454862.2_5'UTR	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	46							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGGCACCTCCATCCGCGAAG	0.647000													9	60					0	0	0.000274275	0	0
VIP	7432	broad.mit.edu	37	6	153076434	153076434	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:153076434C>T	ENST00000367244.3	+	4	433	c.261C>T	c.(259-261)acC>acT	p.T87T	VIP_ENST00000367243.3_Silent_p.T87T	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	87					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	p.T87T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAGTTTTCACCAGTGACTTCA	0.318000													9	66					0	0	3.86212e-05	0	0
ADAM22	53616	broad.mit.edu	37	7	87759752	87759752	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:87759752C>T	ENST00000398204.4	+	10	1126	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ADAM22_ENST00000265727.7_Missense_Mutation_p.S268F|ADAM22_ENST00000398209.3_Missense_Mutation_p.S268F|ADAM22_ENST00000398201.4_Missense_Mutation_p.S268F|ADAM22_ENST00000315984.7_Missense_Mutation_p.S268F|ADAM22_ENST00000439864.1_Missense_Mutation_p.S268F	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	268	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TATGCGAAATCTGTGGTGAAC	0.348000													5	99					0	0	3.59834e-05	0	0
VANGL2	57216	broad.mit.edu	37	1	160389198	160389198	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:160389198A>G	ENST00000368061.2	+	4	1073	c.599A>G	c.(598-600)tAt>tGt	p.Y200C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	200					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTCTTCTATGGTGTGCGC	0.632000													26	105					0	0	0.000227799	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611523	42611523	+	Silent	SNP	C	C	T	rs140821226	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:42611523C>T	ENST00000276410.2	-	5	1174	c.819G>A	c.(817-819)acG>acA	p.T273T	CHRNA6_ENST00000534622.1_Silent_p.T258T	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	273						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAATACAAAGCGTCACTTTTT	0.443000													7	44					0	0	0.000274275	0	0
USP24	23358	broad.mit.edu	37	1	55591072	55591072	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:55591072G>A	ENST00000294383.6	-	34	3880	c.3881C>T	c.(3880-3882)tCc>tTc	p.S1294F	USP24_ENST00000407756.1_Missense_Mutation_p.S1134F	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1294					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTGTCGGTAGGATGACTTTTC	0.458000													14	90					0	0	9.7654e-05	0	0
CASC3	22794	broad.mit.edu	37	17	38325581	38325581	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:38325581C>T	ENST00000264645.7	+	12	2196	c.1970C>T	c.(1969-1971)cCa>cTa	p.P657L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	657	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TCCCAGGCCCCATCACAGGTA	0.527000													29	127					0	0	0.000339439	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176125	140176125	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140176125G>A	ENST00000526136.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E526K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E526K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAAGTGGA	0.687000													6	97					0	0	8.12818e-05	0	0
ITGAE	3682	broad.mit.edu	37	17	3638140	3638140	+	Missense_Mutation	SNP	T	T	C	rs34281241		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:3638140T>C	ENST00000263087.4	-	21	2724	c.2626A>G	c.(2626-2628)Aga>Gga	p.R876G	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	876					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCAGGTTTCTGGGGTAATTC	0.532000													28	143					0	0	0.000279167	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62850750	62850750	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:62850750G>A	ENST00000584306.1	-	14	5402	c.4872C>T	c.(4870-4872)gcC>gcT	p.A1624A	LRRC37A3_ENST00000339474.5_Silent_p.A742A|LRRC37A3_ENST00000334962.5_Silent_p.A601A|LRRC37A3_ENST00000319651.5_Silent_p.A1624A|LRRC37A3_ENST00000400877.3_Silent_p.A662A	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1624						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTCCGTTGGGGCTTCGCTGT	0.488000													7	132					0	0	2.17888e-05	0	0
PRDM9	56979	broad.mit.edu	37	5	23509604	23509604	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:23509604C>T	ENST00000296682.3	+	3	277	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	32	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGACATTTCCATATACTTC	0.413000										HNSCC(3;0.000094)			28	170					0	0	8.91981e-05	0	0
CARD11	84433	broad.mit.edu	37	7	2963915	2963915	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:2963915T>C	ENST00000396946.4	-	15	2295	c.1892A>G	c.(1891-1893)tAc>tGc	p.Y631C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	631					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCAGGTCGTAGGCATCCAG	0.592000			Mis		DLBCL								4	39					0	0	0.00024832	0	0
RNF148	378925	broad.mit.edu	37	7	122342240	122342240	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:122342240G>T	ENST00000434824.1	-	1	781	c.565C>A	c.(565-567)Cat>Aat	p.H189N	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	189						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGATGTAATGGCTCACCCAC	0.438000													7	228					0.000157383	0.00417414	0.000157383	1	0
SYT4	6860	broad.mit.edu	37	18	40853859	40853859	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:40853859C>T	ENST00000255224.3	-	2	903	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	SYT4_ENST00000590752.1_Missense_Mutation_p.G161S|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	179	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGCAAGCCACGGGCTTCC	0.443000													6	70					0	0	3.59834e-05	0	0
PAPOLA	10914	broad.mit.edu	37	14	97009114	97009114	+	Silent	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:97009114G>T	ENST00000216277.8	+	14	1393	c.1173G>T	c.(1171-1173)gtG>gtT	p.V391V	PAPOLA_ENST00000392990.2_Silent_p.V391V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	391					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGTTCAGGGTGGGCTTGGTGG	0.378000													7	141					0.000274275	0.00719485	0.000274275	1	0
ZC3H3	23144	broad.mit.edu	37	8	144620568	144620568	+	Silent	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:144620568A>G	ENST00000262577.5	-	2	1000	c.969T>C	c.(967-969)gtT>gtC	p.V323V		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	323					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCTCCGAGCAACCCGGGGAC	0.597000													8	134					0	0	2.17888e-05	0	0
ZNF611	81856	broad.mit.edu	37	19	53208989	53208989	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:53208989G>A	ENST00000543227.1	-	6	1593	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	ZNF611_ENST00000453741.2_Missense_Mutation_p.S371F|ZNF611_ENST00000602162.1_Missense_Mutation_p.S371F|ZNF611_ENST00000595798.1_Missense_Mutation_p.S371F|ZNF611_ENST00000319783.1_Missense_Mutation_p.S440F|ZNF611_ENST00000540744.1_Missense_Mutation_p.S440F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GCATACAAGGGATGACTTGTG	0.403000													10	157					0	0	3.86212e-05	0	0
POSTN	10631	broad.mit.edu	37	13	38153415	38153415	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:38153415A>G	ENST00000379747.4	-	13	1859	c.1742T>C	c.(1741-1743)gTt>gCt	p.V581A	POSTN_ENST00000379743.4_Missense_Mutation_p.V581A|POSTN_ENST00000379749.4_Missense_Mutation_p.V581A|POSTN_ENST00000541179.1_Missense_Mutation_p.V581A|POSTN_ENST00000541481.1_Missense_Mutation_p.V581A|POSTN_ENST00000379742.4_Missense_Mutation_p.V581A	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	581	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATGTTAGTAACACCAGGTTC	0.333000													8	93					0	0	0.000274275	0	0
CPEB1	64506	broad.mit.edu	37	15	83221280	83221280	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:83221280G>A	ENST00000563800.1	-	8	2956	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	CPEB1_ENST00000450751.2_Silent_p.L309L|CPEB1_ENST00000398591.2_Silent_p.L314L|CPEB1_ENST00000423133.2_Silent_p.L309L|CPEB1_ENST00000564522.1_Silent_p.L309L|CPEB1_ENST00000261723.6_Silent_p.L387L|CPEB1_ENST00000568128.1_Silent_p.L384L|CPEB1_ENST00000398592.2_Silent_p.L158L|RP11-152F13.10_ENST00000562833.1_Silent_p.A118A|CPEB1_ENST00000568757.1_Silent_p.L309L|CPEB1_ENST00000562019.1_Silent_p.L389L|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	389	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TATTCACTCAGGCCATCTGGG	0.498000													19	61					0	0	9.7654e-05	0	0
ATP5SL	55101	broad.mit.edu	37	19	41942339	41942339	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:41942339C>T	ENST00000221943.9	-	3	259	c.254G>A	c.(253-255)gGc>gAc	p.G85D	ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G85D|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G91D|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G91D|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000597457.1_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	85										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGCACCTGCGCCGTATGGACC	0.567000													17	84					0	0	0.000229342	0	0
PRMT2	3275	broad.mit.edu	37	21	48064250	48064250	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr21:48064250C>T	ENST00000397637.1	+	4	1131	c.177C>T	c.(175-177)atC>atT	p.I59I	PRMT2_ENST00000440086.1_Silent_p.I59I|PRMT2_ENST00000334494.4_Silent_p.I59I|PRMT2_ENST00000451211.2_Silent_p.I59I|PRMT2_ENST00000291705.6_Silent_p.I59I|PRMT2_ENST00000355680.3_Silent_p.I59I|PRMT2_ENST00000397638.2_Silent_p.I59I|PRMT2_ENST00000397628.1_Silent_p.I59I|PRMT2_ENST00000458387.2_Silent_p.I59I			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	59	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AAATTCTTATCCTGAGACAAA	0.443000													12	45					0	0	0.000219431	0	0
SCN10A	6336	broad.mit.edu	37	3	38805058	38805058	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:38805058C>T	ENST00000449082.2	-	5	628	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	210					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCTGAGATCCCACGGAGATC	0.453000													5	85					0	0	1.23904e-05	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232478	81232478	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:81232478G>A	ENST00000599697.1	-	7	1331	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	444	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACCAAGTGGACTGTAATGT	0.562000													9	130					0	0	6.40141e-05	0	0
ATP5SL	55101	broad.mit.edu	37	19	41942340	41942340	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:41942340C>T	ENST00000221943.9	-	3	258	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G85S|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G91S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G91S|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000597457.1_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	85										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GCACCTGCGCCGTATGGACCA	0.567000													16	83					0	0	0.000175454	0	0
ALG5	29880	broad.mit.edu	37	13	37539795	37539795	+	Silent	SNP	T	T	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:37539795T>A	ENST00000239891.3	-	8	756	c.690A>T	c.(688-690)ggA>ggT	p.G230G	ALG5_ENST00000443765.1_Silent_p.G200G|ALG5_ENST00000413537.2_3'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	230					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGTCCCTGATTCCTTTGACAC	0.413000													7	67					0	0	8.12818e-05	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148930447	148930447	+	Silent	SNP	G	G	A	rs112881076	by1000genomes	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:148930447G>A	ENST00000261798.5	-	1	513	c.81C>T	c.(79-81)tcC>tcT	p.S27S	CSNK1A1_ENST00000377843.2_Silent_p.S27S|CSNK1A1_ENST00000515768.1_Silent_p.S27S|CSNK1A1_ENST00000515748.2_Silent_p.S27S	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	27	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGTCCCCGAAGGAGCCAGACC	0.532000													13	56					0	0	0.000219431	0	0
LOC644669	644669	broad.mit.edu	37	18	15316727	15316727	+	RNA	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:15316727G>A	ENST00000455308.2	-	0	696					NR_027417.1																						TTTCTGCCAAGGGTGCAGCCT	0.418000													4	17					0	0	3.59834e-05	0	0
GIPC1	10755	broad.mit.edu	37	19	14591193	14591193	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:14591193C>T	ENST00000393033.4	-	6	848	c.579G>A	c.(577-579)gaG>gaA	p.E193E	GIPC1_ENST00000393029.3_Silent_p.E96E|GIPC1_ENST00000345425.2_Silent_p.E193E|GIPC1_ENST00000586027.1_Silent_p.E193E|GIPC1_ENST00000393028.1_Silent_p.E96E|GIPC1_ENST00000591349.1_Silent_p.E96E	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	193	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCGGGCCACCTCGTAGTGCC	0.662000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	73					0	0	0.000274275	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16810768	16810768	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:16810768C>T	ENST00000355661.3	-	23	3242	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E1078K|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E1079K|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_3'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1078					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCATGCGCTCCAGCTGCTCC	0.627000													9	114					0	0	2.17888e-05	0	0
VPRBP	9730	broad.mit.edu	37	3	51475831	51475831	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:51475831C>T	ENST00000335891.5	-	6	605	c.596G>A	c.(595-597)cGg>cAg	p.R199Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	199					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGAGAGCTTCCGTGGACTGGG	0.507000													20	157					0	0	0.000295444	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074019	8074019	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:8074019G>A	ENST00000075120.7	-	10	1721	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	494					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTAGACATTGGTGGTGGTCTC	0.572000													27	266					0	0	7.24521e-05	0	0
CS	1431	broad.mit.edu	37	12	56679756	56679756	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:56679756T>C	ENST00000351328.3	-	3	335	c.145A>G	c.(145-147)Aag>Gag	p.K49E	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K245E|CS_ENST00000542324.2_Missense_Mutation_p.K36E|CS_ENST00000548567.1_5'UTR	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	49					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTGAAAGTCTTAATTCTGGCC	0.428000													33	213					0	0	0.000159656	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894360	54894360	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:54894360G>A	ENST00000293373.6	+	3	336	c.257G>A	c.(256-258)aGa>aAa	p.R86K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R36K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	86					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGATAATTAGATTCCTCACC	0.393000													10	132					0	0	3.86212e-05	0	0
AMPH	273	broad.mit.edu	37	7	38530661	38530661	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:38530661G>A	ENST00000356264.2	-	5	600	c.385C>T	c.(385-387)Cct>Tct	p.P129S	AMPH_ENST00000428293.2_Missense_Mutation_p.P129S|AMPH_ENST00000325590.5_Missense_Mutation_p.P129S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	129	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P129S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTTATGTCAGGAAATTGCCCC	0.398000													14	202					0	0	0.000422831	0	0
PLCL1	5334	broad.mit.edu	37	2	198949115	198949115	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:198949115G>A	ENST00000428675.1	+	2	1272	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E194K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	292					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAGCAAGGAAAAACTAAC	0.393000													23	63					0	0	7.16444e-05	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552881	117552881	+	Missense_Mutation	SNP	C	C	T	rs150498686		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:117552881C>T	ENST00000374045.4	-	4	720	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	TNFSF15_ENST00000374044.1_Missense_Mutation_p.E126K	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	203					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTACCTACTTCGCATACAGAC	0.527000													5	33					0	0	1.23904e-05	0	0
SLC26A10	65012	broad.mit.edu	37	12	58017649	58017649	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:58017649C>T	ENST00000379218.2	+	8	1395	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	SLC26A10_ENST00000320442.4_Silent_p.L362L			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	362						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CACAGTGGTCCTGTCGGTGCT	0.567000													10	119					0	0	6.40141e-05	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452992	35452992	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:35452992C>T	ENST00000357182.4	-	16	3918	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1231					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTTCTTCTTCGAAGTCGGTG	0.353000													18	67					0	0	9.7654e-05	0	0
PAK4	10298	broad.mit.edu	37	19	39667342	39667342	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:39667342C>T	ENST00000599386.1	+	7	1194	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	PAK4_ENST00000435673.2_Missense_Mutation_p.P491L|PAK4_ENST00000599470.1_Missense_Mutation_p.P338L|PAK4_ENST00000593690.1_Missense_Mutation_p.P491L|PAK4_ENST00000358301.3_Missense_Mutation_p.P491L|PAK4_ENST00000321944.4_Missense_Mutation_p.P401L|PAK4_ENST00000360442.3_Missense_Mutation_p.P491L	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	491	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCCCGCCTTCCCTACGGGCCA	0.667000													7	80					0	0	0.000157383	0	0
GOT1	2805	broad.mit.edu	37	10	101163546	101163546	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:101163546T>C	ENST00000370508.5	-	6	755	c.728A>G	c.(727-729)tAt>tGt	p.Y243C	GOT1_ENST00000543866.1_Missense_Mutation_p.Y222C	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	243					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGACACAAAATAGCGAATGGC	0.542000													4	49					0	0	1.23904e-05	0	0
LMX1A	4009	broad.mit.edu	37	1	165173144	165173144	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:165173144G>A	ENST00000342310.3	-	9	1504	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	LMX1A_ENST00000367893.4_Silent_p.S374S|LMX1A_ENST00000294816.2_Silent_p.S374S|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	374						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AATTCTGCATGGAGTACAGAT	0.493000													13	51					0	0	0.000219431	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779085	93779085	+	Splice_Site	SNP	T	T	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:93779085T>A	ENST00000315765.9	+	2	423		c.e2+2			NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1						copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTCAGAAGGTAAATATCAAT	0.368000													6	48					0	0	0.000157383	0	0
VPS13D	55187	broad.mit.edu	37	1	12339581	12339581	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:12339581C>T	ENST00000358136.3	+	20	4606	c.4476C>T	c.(4474-4476)acC>acT	p.T1492T	VPS13D_ENST00000356315.4_Silent_p.T1492T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1492					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAACACCACCATTCAGTTTA	0.363000													11	50					0	0	6.40141e-05	0	0
C17orf102	400591	broad.mit.edu	37	17	32906108	32906108	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:32906108G>A	ENST00000357754.1	-	1	280	c.192C>T	c.(190-192)tcC>tcT	p.S64S		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	64										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCGCGCCTCTGGAAGAGCGGC	0.667000													9	88					0	0	0.000151284	0	0
KIAA1715	80856	broad.mit.edu	37	2	176812397	176812397	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:176812397G>C	ENST00000272748.4	-	9	764	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E	KIAA1715_ENST00000535310.1_Missense_Mutation_p.Q98E|KIAA1715_ENST00000544803.1_Missense_Mutation_p.Q173E	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	173						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGGTTTCTTTGAGCTGCAGTT	0.443000													7	90					0	0	0.000157383	0	0
PASD1	139135	broad.mit.edu	37	X	150841077	150841077	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:150841077G>A	ENST00000370357.4	+	14	2105	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	620						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAACAACAGCCCTCTGGCT	0.468000													6	34					0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179577951	179577951	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:179577951C>T	ENST00000589042.1	-	93	27134	c.26910G>A	c.(26908-26910)agG>agA	p.R8970R	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.R8653R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R7726R|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8653	Ig-like 72.						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)			TCTGGTATTTCCTTCCACTAC	0.438000													9	23					0	0	0.000274275	0	0
DYSF	8291	broad.mit.edu	37	2	71908140	71908140	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:71908140G>A	ENST00000258104.3	+	53	6233	c.5956G>A	c.(5956-5958)Gaa>Aaa	p.E1986K	DYSF_ENST00000394120.2_Missense_Mutation_p.E1987K|DYSF_ENST00000409762.1_Missense_Mutation_p.E2003K|DYSF_ENST00000409651.1_Missense_Mutation_p.E2018K|DYSF_ENST00000413539.2_Missense_Mutation_p.E2017K|DYSF_ENST00000429174.2_Missense_Mutation_p.E2007K|DYSF_ENST00000410041.1_Missense_Mutation_p.E2004K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1994K|DYSF_ENST00000410020.3_Missense_Mutation_p.E2025K|DYSF_ENST00000409366.1_Missense_Mutation_p.E2008K|DYSF_ENST00000409582.3_Missense_Mutation_p.E2024K|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1986						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGCAAGCTGGAAATGACCTT	0.572000													5	45					0	0	0.000157383	0	0
ELN	2006	broad.mit.edu	37	7	73474766	73474766	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:73474766G>A	ENST00000252034.7	+	25	2081	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E	ELN_ENST00000380575.4_Missense_Mutation_p.G532E|ELN_ENST00000380584.4_Missense_Mutation_p.G513E|ELN_ENST00000380576.5_Missense_Mutation_p.G542E|ELN_ENST00000358929.4_Missense_Mutation_p.G596E|ELN_ENST00000357036.5_Missense_Mutation_p.G566E|ELN_ENST00000445912.1_Missense_Mutation_p.G561E|ELN_ENST00000380562.4_Missense_Mutation_p.G567E|ELN_ENST00000320399.6_Missense_Mutation_p.G561E|ELN_ENST00000380553.4_Missense_Mutation_p.G425E|ELN_ENST00000320492.7_Missense_Mutation_p.G480E|ELN_ENST00000458204.1_Missense_Mutation_p.G551E|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G537E|ELN_ENST00000429192.1_Missense_Mutation_p.G547E	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	590	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGCGTCCCTGGACTTGGAGTT	0.632000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						17	69					0	0	9.7654e-05	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621206	144621206	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:144621206G>A	ENST00000262577.5	-	2	362	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	111					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGTCTCTCAAGGACATGCTGC	0.662000													11	68					0	0	0.00010058	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725065	140725065	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140725065T>C	ENST00000253812.6	+	1	1465	c.1465T>C	c.(1465-1467)Tat>Cat	p.Y489H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCATCACTTATGCATTGAC	0.552000													5	96					0	0	1.23904e-05	0	0
MNAT1	4331	broad.mit.edu	37	14	61201633	61201633	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:61201633C>T	ENST00000261245.4	+	1	154	c.53C>T	c.(52-54)tCc>tTc	p.S18F	MNAT1_ENST00000539616.2_Missense_Mutation_p.S18F|MNAT1_ENST00000555545.1_3'UTR	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	18					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CGGAACCCCTCCTTGAAGCTG	0.602000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					5	84					0	0	3.59834e-05	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074018	8074018	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:8074018G>A	ENST00000075120.7	-	10	1722	c.1482C>T	c.(1480-1482)acC>acT	p.T494T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	494					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTAGACATTGGTGGTGGTCT	0.572000													27	262					0	0	7.24521e-05	0	0
PAK7	57144	broad.mit.edu	37	20	9546931	9546931	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:9546931G>A	ENST00000378429.3	-	6	1637	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	PAK7_ENST00000353224.5_Missense_Mutation_p.S364L|PAK7_ENST00000378423.1_Missense_Mutation_p.S364L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	364	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S364L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAATAGCCCGATTTGCTTTG	0.562000													21	79					0	0	0.000229342	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813585	106813585	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:106813585G>A	ENST00000407775.2	+	8	1525	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.K156K|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.K293K|ZFPM2_ENST00000517361.1_Silent_p.K293K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	425					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAGCCAAAAGGCCATGCAGA	0.493000													5	42					0	0	1.23904e-05	0	0
CHRNB1	1140	broad.mit.edu	37	17	7359980	7359980	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:7359980G>T	ENST00000306071.2	+	11	1511	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	CHRNB1_ENST00000536404.2_Missense_Mutation_p.G410W|CHRNB1_ENST00000576360.1_Missense_Mutation_p.G361W|CHRNB1_ENST00000575379.1_Missense_Mutation_p.G18W	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	482					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CACCAGCGTTGGGACCCTAGT	0.572000													6	69					0.000157383	0.00417414	0.000157383	1	0
GPR179	440435	broad.mit.edu	37	17	36499253	36499253	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:36499253C>T	ENST00000342292.4	-	1	440	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	140						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCTTGGGTCCCCCTCGGCCA	0.607000													4	42					0	0	3.59834e-05	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355518	45355518	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:45355518T>C	ENST00000359271.2	+	3	1554	c.1304T>C	c.(1303-1305)cTc>cCc	p.L435P		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	435						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGCTTGTCCTCAGCGAGATC	0.592000													10	130					0	0	6.40141e-05	0	0
PXDNL	137902	broad.mit.edu	37	8	52366211	52366211	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:52366211C>T	ENST00000356297.4	-	10	1217	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R	PXDNL_ENST00000543296.1_Missense_Mutation_p.G373R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	373	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCCTGGATCCATCCAGCTCC	0.507000													11	36					0	0	6.40141e-05	0	0
PLCB1	23236	broad.mit.edu	37	20	8637901	8637901	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:8637901G>A	ENST00000378641.3	+	8	1140	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PLCB1_ENST00000378637.2_Missense_Mutation_p.R222Q|PLCB1_ENST00000338037.6_Missense_Mutation_p.R222Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	222					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTTGCCCTCGACCTGAAATT	0.383000													13	77					0	0	9.7654e-05	0	0
PEG3	5178	broad.mit.edu	37	19	57325750	57325750	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:57325750G>A	ENST00000326441.9	-	10	4423	c.4060C>T	c.(4060-4062)Cat>Tat	p.H1354Y	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H1230Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H1228Y|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H1354Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1354	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCCAGATGAAGCTCCTTA	0.453000													8	34					0	0	2.17888e-05	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:158548760C>T	ENST00000368150.1	-	1	929	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000													27	110					0	0	7.16444e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100552009	100552009	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:100552009C>T	ENST00000319509.7	+	1	760	c.760C>T	c.(760-762)Cca>Tca	p.P254S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGCATAACTCCAGTGTTCTC	0.428000													35	797					0	0	0.000191422	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784418	15784418	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:15784418G>A	ENST00000550308.1	+	2	459	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	CYP4F12_ENST00000324632.9_Missense_Mutation_p.G27S	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTGGTTGTGGGCTCCTGGCT	0.627000													8	105					0	0	0.000274275	0	0
PREX1	57580	broad.mit.edu	37	20	47276592	47276592	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:47276592C>T	ENST00000396220.1	-	16	1768	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	PREX1_ENST00000371941.3_Silent_p.E582E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	582	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCGCTCTTCTCCAGCACTG	0.537000													13	48					0	0	0.000308642	0	0
NEO1	4756	broad.mit.edu	37	15	73536798	73536798	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:73536798G>C	ENST00000339362.5	+	10	2012	c.1565G>C	c.(1564-1566)gGa>gCa	p.G522A	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.G522A|NEO1_ENST00000558964.1_Missense_Mutation_p.G522A|NEO1_ENST00000560262.1_Missense_Mutation_p.G522A			Q92859	NEO1_HUMAN	neogenin 1	522	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CATGGCTCAGGAGAGAGTTCA	0.483000													13	58					0	0	0.000308642	0	0
MPP2	4355	broad.mit.edu	37	17	41959867	41959867	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:41959867G>A	ENST00000269095.4	-	6	770	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	MPP2_ENST00000536246.1_Missense_Mutation_p.R145C|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000523501.1_Missense_Mutation_p.R145C|MPP2_ENST00000377184.3_Missense_Mutation_p.R173C|MPP2_ENST00000518766.1_Missense_Mutation_p.R201C|MPP2_ENST00000520305.1_Missense_Mutation_p.R17C|MPP2_ENST00000461854.1_Missense_Mutation_p.R180C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	180					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCCTCCACGCGGAACGTTACA	0.552000													4	34					0	0	0.00024832	0	0
RBM48	84060	broad.mit.edu	37	7	92163790	92163790	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:92163790G>A	ENST00000481551.1	+	4	564	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RBM48_ENST00000265732.5_Missense_Mutation_p.E175K			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	175							nucleotide binding										CTTCCACTCAGAGATGTCTGG	0.363000													13	54					0	0	0.000308642	0	0
COL1A1	1277	broad.mit.edu	37	17	48263850	48263850	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:48263850G>A	ENST00000225964.5	-	49	3951	c.3833C>T	c.(3832-3834)cCc>cTc	p.P1278L		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1278	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCTTGGTTGGGGTCAATCCA	0.572000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						14	44					0	0	5.01169e-05	0	0
PRR11	55771	broad.mit.edu	37	17	57275069	57275069	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:57275069C>T	ENST00000262293.4	+	9	1245	c.933C>T	c.(931-933)acC>acT	p.T311T	CTD-2510F5.6_ENST00000577660.1_Silent_p.T18T	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	311										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAGGTGGAACCCCTCTTACCA	0.408000													7	194					0	0	0.000274275	0	0
TOX2	84969	broad.mit.edu	37	20	42697318	42697318	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:42697318C>T	ENST00000358131.5	+	8	1667	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F	TOX2_ENST00000435864.2_Missense_Mutation_p.L383F|TOX2_ENST00000423191.1_Missense_Mutation_p.L463F|TOX2_ENST00000372999.1_Missense_Mutation_p.L463F|TOX2_ENST00000341197.3_Missense_Mutation_p.L505F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATCGCTCTACCTCACCTAATC	0.632000													6	25					0	0	8.12818e-05	0	0
CENPN	55839	broad.mit.edu	37	16	81060211	81060211	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:81060211C>T	ENST00000305850.5	+	9	1568	c.778C>T	c.(778-780)Cct>Tct	p.P260S	CENPN_ENST00000439957.3_Missense_Mutation_p.P240S|RP11-303E16.3_ENST00000566390.1_RNA|RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000428963.2_Missense_Mutation_p.P226S|CENPN_ENST00000393335.3_Missense_Mutation_p.P260S	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	260					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						TGGAGATTATCCTCAACCACA	0.308000													11	157					0	0	0.00010058	0	0
TANC2	26115	broad.mit.edu	37	17	61498334	61498334	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:61498334T>C	ENST00000424789.2	+	25	4995	c.4991T>C	c.(4990-4992)aTt>aCt	p.I1664T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.I1674T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1664							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAAGGGTCAATTGGGGGAATC	0.537000													5	93					0	0	1.23904e-05	0	0
EGFR	1956	broad.mit.edu	37	7	55238005	55238005	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:55238005G>A	ENST00000344576.2	+	16	2131	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	EGFR_ENST00000455089.1_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	632					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCAGGCCAGGAAATGAGAGT	0.458000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			10	54					0	0	6.40141e-05	0	0
TMC2	117532	broad.mit.edu	37	20	2597740	2597740	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:2597740G>A	ENST00000358864.1	+	16	1978	c.1963G>A	c.(1963-1965)Ggc>Agc	p.G655S	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	655						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTATGCTCCAGGCCTGGTGGG	0.567000													7	35					0	0	2.17888e-05	0	0
MYH15	22989	broad.mit.edu	37	3	108174625	108174625	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:108174625G>A	ENST00000273353.3	-	21	2336	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	760	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTATCTCCAAGGAGCCAAGTA	0.413000													16	146					0	0	0.000422831	0	0
TRIM15	89870	broad.mit.edu	37	6	30131599	30131599	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:30131599G>A	ENST00000376694.4	+	1	607	c.138G>A	c.(136-138)atG>atA	p.M46I	TRIM15_ENST00000376688.1_Missense_Mutation_p.M46I	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	46					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTCCCAGATGGGGGCCCAAT	0.687000													7	32					0	0	0.000157383	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		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													3	9					0	0	6.4e-05	0	0
NLRP13	126204	broad.mit.edu	37	19	56424571	56424571	+	Silent	SNP	G	G	A	rs142264094	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:56424571G>A	ENST00000588751.1	-	5	636	c.612C>T	c.(610-612)atC>atT	p.I204I	NLRP13_ENST00000342929.3_Silent_p.I204I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	204							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATGTATTACGGATATATACGT	0.498000													21	160					0	0	0.000229342	0	0
ZNF90	7643	broad.mit.edu	37	19	20229365	20229365	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:20229365C>T	ENST00000418063.2	+	4	1114	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	334						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I334I(1)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ATAAGAGAATCCATACTGGAG	0.408000													6	12					0	0	3.59834e-05	0	0
MYH15	22989	broad.mit.edu	37	3	108174626	108174626	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:108174626G>A	ENST00000273353.3	-	21	2335	c.2279C>T	c.(2278-2280)tCc>tTc	p.S760F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	760	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TATCTCCAAGGAGCCAAGTAA	0.408000													15	147					0	0	0.000219431	0	0
ACTC1	70	broad.mit.edu	37	15	35083487	35083487	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:35083487G>A	ENST00000290378.4	-	6	1473	c.818C>T	c.(817-819)tCt>tTt	p.S273F	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	273					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATGCCAGCAGATTCCATACC	0.468000													12	82					0	0	6.40141e-05	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58849896	58849896	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:58849896G>A	ENST00000329665.4	+	3	827	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	227					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGTGCCTCGAGGAACAGTTCT	0.517000													28	135					0	0	0.000339439	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570421	9570421	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:9570421G>T	ENST00000400556.3	-	11	1380	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P419Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	436					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCCAACCTCTGGTCGTAACAT	0.408000													22	100					4.26978e-12	1.17126e-10	5.49717e-05	1	0
ADCY8	114	broad.mit.edu	37	8	131861885	131861885	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:131861885G>A	ENST00000286355.5	-	10	4467	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	792					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATCAAAATGGATGCAAAGAT	0.443000										HNSCC(32;0.087)			7	44					0	0	0.000274275	0	0
IQCG	84223	broad.mit.edu	37	3	197670848	197670848	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:197670848G>A	ENST00000265239.6	-	4	507	c.83C>T	c.(82-84)cCa>cTa	p.P28L	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.P28L|IQCG_ENST00000453254.1_Missense_Mutation_p.P28L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	28										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGTACTAGGTGGTTCGCCTGT	0.433000													31	147					0	0	0.000279167	0	0
DDX20	11218	broad.mit.edu	37	1	112305559	112305559	+	Missense_Mutation	SNP	C	C	G	rs142254105		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:112305559C>G	ENST00000475700.1	+	2	2424	c.66C>G	c.(64-66)tgC>tgG	p.C22W	DDX20_ENST00000369702.4_Missense_Mutation_p.C414W|DDX20_ENST00000536167.1_3'UTR			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	414					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTACTGTTGCCGGGGAGAGG	0.378000													5	46					0	0	3.59834e-05	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500671	142500671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:142500671C>T	ENST00000378004.3	+	18	2012	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.Q553*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	553	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCAAATTTCAGAACATTGT	0.443000													18	87					0	0	5.01169e-05	0	0
TUBA3D	113457	broad.mit.edu	37	2	132235846	132235846	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:132235846G>A	ENST00000321253.6	+	2	220	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	38					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAAATGCCAAGTGATAAAACC	0.557000													8	90					0	0	0.000274275	0	0
ACSL1	2180	broad.mit.edu	37	4	185678861	185678861	+	Splice_Site	SNP	C	C	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:185678861C>A	ENST00000515030.1	-	20	2210		c.e20-1		ACSL1_ENST00000513317.1_Splice_Site|ACSL1_ENST00000454703.2_Splice_Site|ACSL1_ENST00000281455.2_Splice_Site|ACSL1_ENST00000507295.1_Splice_Site|ACSL1_ENST00000437665.3_Splice_Site|ACSL1_ENST00000504342.1_Splice_Site			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1						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			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)	TTTTGACATCCTAAAAGGGTA	0.398000													8	150					0.000157383	0.00417414	0.000157383	1	0
PPA2	27068	broad.mit.edu	37	4	106367568	106367568	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:106367568T>C	ENST00000341695.5	-	5	443	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	PPA2_ENST00000357415.4_Missense_Mutation_p.Y153C|PPA2_ENST00000432483.2_Intron|PPA2_ENST00000380004.2_Missense_Mutation_p.Y120C|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000348706.5_Missense_Mutation_p.Y138C|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_Missense_Mutation_p.Y59C	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	138					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATTCCATATATAACCCTTGTA	0.373000													14	115					0	0	9.7654e-05	0	0
IP6K1	9807	broad.mit.edu	37	3	49785291	49785291	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:49785291G>A	ENST00000321599.4	-	2	484	c.183C>T	c.(181-183)tcC>tcT	p.S61S	IP6K1_ENST00000395238.1_Intron|IP6K1_ENST00000468463.1_Silent_p.S61S|IP6K1_ENST00000460540.1_Intron	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	61					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CGGGAGGGAGGGACTCGTAAA	0.537000													6	35					0	0	8.12818e-05	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653866	46653866	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:46653866G>A	ENST00000253255.5	-	1	5353	c.5354C>T	c.(5353-5355)tCg>tTg	p.S1785L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1785					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GATTTTAGACGAGCTTTCAGG	0.423000													53	174					0	0	0.000147903	0	0
ZNF347	84671	broad.mit.edu	37	19	53644814	53644814	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:53644814G>T	ENST00000452676.2	-	5	1696	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.H424N|ZNF347_ENST00000334197.7_Missense_Mutation_p.H423N	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCAGTGTGAATTCTCCAG	0.428000													9	129					4.68919e-08	1.27538e-06	3.86212e-05	1	0
CNDP1	84735	broad.mit.edu	37	18	72229330	72229330	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:72229330C>T	ENST00000582365.1	+	4	452	c.386C>T	c.(385-387)gCt>gTt	p.A129V	CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000358821.3_Missense_Mutation_p.A172V			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	172					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CCTGTCTTGGCTTGGATCAAT	0.512000													19	69					0	0	0.000175454	0	0
FOLH1	2346	broad.mit.edu	37	11	49195014	49195014	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:49195014G>A	ENST00000340334.7	-	11	1443	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.L374L|FOLH1_ENST00000356696.3_Silent_p.L374L|FOLH1_ENST00000343844.4_Silent_p.L66L|FOLH1_ENST00000533034.1_Silent_p.L359L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	374	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGACCTCCCAGAATGACATAT	0.388000													13	83					0	0	9.7654e-05	0	0
SOAT1	6646	broad.mit.edu	37	1	179310230	179310230	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:179310230T>C	ENST00000367619.3	+	7	708	c.565T>C	c.(565-567)Tgg>Cgg	p.W189R	SOAT1_ENST00000539888.1_Missense_Mutation_p.W124R|SOAT1_ENST00000540564.1_Missense_Mutation_p.W131R|SOAT1_ENST00000535686.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	189					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGGACCTGGTGGATCATGTT	0.448000													15	77					0	0	0.000219431	0	0
DSG2	1829	broad.mit.edu	37	18	29100904	29100904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:29100904C>T	ENST00000261590.8	+	4	564	c.355C>T	c.(355-357)Cga>Tga	p.R119*	DSG2_ENST00000585206.1_Nonsense_Mutation_p.R119*	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	119	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CATTCTTGATCGAGAAGAAAC	0.294000													6	53					0	0	0.000157383	0	0
SMOX	54498	broad.mit.edu	37	20	4162833	4162833	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:4162833C>T	ENST00000305958.4	+	5	932	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SMOX_ENST00000339123.6_Missense_Mutation_p.P236L|SMOX_ENST00000278795.3_Missense_Mutation_p.P236L|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.P236L	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	236					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CACATCATCCCCTCGGGCTTC	0.647000													8	34					0	0	0.000274275	0	0
RYR2	6262	broad.mit.edu	37	1	237666774	237666774	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:237666774C>T	ENST00000366574.2	+	22	2899	c.2582C>T	c.(2581-2583)gCc>gTc	p.A861V	RYR2_ENST00000360064.6_Missense_Mutation_p.A859V|RYR2_ENST00000542537.1_Missense_Mutation_p.A845V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	861	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGCAAGCTGCCTTCACACCC	0.502000													11	81					0	0	0.00010058	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620051	28620051	+	Silent	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:28620051G>T	ENST00000395609.1	-	4	884	c.126C>A	c.(124-126)ctC>ctA	p.L42L	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.L42L|SULT1A1_ENST00000314752.7_Silent_p.L42L|SULT1A1_ENST00000395607.1_Silent_p.L42L			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	42					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGGTGCTGATGAGCAGGTCAT	0.657000													7	54					1.06961e-07	2.90095e-06	0.000157383	1	0
NFASC	23114	broad.mit.edu	37	1	204913534	204913534	+	Splice_Site	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:204913534C>T	ENST00000367172.4	+	3	419	c.91_splice	c.e3+1	p.P31_splice	NFASC_ENST00000513543.1_Splice_Site_p.L31_splice|NFASC_ENST00000401399.1_Splice_Site_p.P31_splice|NFASC_ENST00000404907.1_Splice_Site_p.L31_splice|NFASC_ENST00000360049.4_Splice_Site_p.L31_splice|NFASC_ENST00000338515.6_Splice_Site_p.P31_splice|NFASC_ENST00000338586.6_Splice_Site_p.P31_splice|NFASC_ENST00000404076.1_Splice_Site_p.L31_splice|NFASC_ENST00000339876.6_Splice_Site_p.P31_splice|NFASC_ENST00000367170.4_Splice_Site_p.P31_splice|NFASC_ENST00000367171.4_Splice_Site_p.L31_splice|NFASC_ENST00000539706.1_Splice_Site_p.L31_splice|NFASC_ENST00000367169.4_Splice_Site_p.P31_splice|NFASC_ENST00000403080.1_Splice_Site_p.P31_splice			O94856	NFASC_HUMAN	neurofascin	31					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.L31L(1)|p.P31S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTATGGATCGTGAGTCCTG	0.572000													5	19					0	0	1.23904e-05	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895338	42895338	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:42895338C>T	ENST00000399770.2	+	1	55	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGTCCGGTTTCGGATCGCGTC	0.512000													9	78					0	0	2.17888e-05	0	0
KCNQ3	3786	broad.mit.edu	37	8	133184904	133184904	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:133184904C>T	ENST00000388996.4	-	7	1501	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E361K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E241K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	361					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGGTGTTGCTCCTGCACCTTG	0.587000													5	96					0	0	1.23904e-05	0	0
COL5A2	1290	broad.mit.edu	37	2	189907957	189907957	+	Missense_Mutation	SNP	C	C	T	rs142186131		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:189907957C>T	ENST00000374866.3	-	48	3665	c.3391G>A	c.(3391-3393)Ggt>Agt	p.G1131S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1131					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATGATCACCTTTGTCACCA	0.423000													6	43					0	0	0.000157383	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967281	106967281	+	RNA	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:106967281G>A	ENST00000390622.2	-	0	422																											TGCCTTGCAGGAAACCTTCAC	0.562000													12	58					0	0	6.40141e-05	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611443	56611443	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:56611443G>A	ENST00000407595.2	+	6	2117	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	539										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTCGTGTCCTGGAATTAGGCA	0.413000													17	75					0	0	0.000295444	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60989120	60989120	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:60989120C>T	ENST00000252998.1	-	10	1443	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TGGCTGCAGCCTCTGTCCTCT	0.726000													3	8					0	0	0.00024832	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022052	34022052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:34022052G>A	ENST00000374375.1	+	2	538	c.96G>A	c.(94-96)tgG>tgA	p.W32*	GDF5_ENST00000374369.3_Silent_p.R387R|GDF5_ENST00000374372.1_Silent_p.R387R																cervix(1)|endometrium(4)|lung(4)	9						GCTTGCCCTGGCGAGTGGCCA	0.582000													16	174					0	0	5.01169e-05	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187229	140187229	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140187229C>T	ENST00000530339.1	+	1	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P153S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P153S	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.537000													15	84					0	0	5.01169e-05	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620402	70620402	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:70620402C>T	ENST00000310613.2	-	3	560	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTTCTTAATCCAGGGAGAGT	0.303000													13	161					0	0	0.000422831	0	0
PCSK5	5125	broad.mit.edu	37	9	78796501	78796501	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:78796501G>A	ENST00000545128.1	+	16	2729	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	PCSK5_ENST00000376752.4_Missense_Mutation_p.D731N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	731	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTCATATCAGGATACCAGTAA	0.433000													5	63					0	0	1.23904e-05	0	0
RDM1	201299	broad.mit.edu	37	17	34251717	34251717	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:34251717C>T	ENST00000394529.3	-	3	876	c.390G>A	c.(388-390)ccG>ccA	p.P130P	RDM1_ENST00000394528.3_Silent_p.P153P|RDM1_ENST00000430160.2_Silent_p.P130P|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394527.1_Intron|RDM1_ENST00000293273.6_Silent_p.P153P|RDM1_ENST00000419453.2_Silent_p.P130P|RDM1_ENST00000431884.2_Silent_p.P153P	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	153	Necessary for nuclear and nucleolar localization.				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCTTTGCTTCGGAAGTGGCA	0.468000								Other identified genes with known or suspected DNA repair function					18	85					0	0	7.07596e-05	0	0
CDRT1	374286	broad.mit.edu	37	17	15522499	15522499	+	Silent	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:15522499A>G	ENST00000395906.3	-	1	327	c.328T>C	c.(328-330)Ttg>Ctg	p.L110L	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	110										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GTTTTATCCAACATTTGGTTC	0.448000													13	154					0	0	0.000219431	0	0
PALD1	27143	broad.mit.edu	37	10	72324133	72324133	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:72324133A>G	ENST00000263563.6	+	19	2544	c.2276A>G	c.(2275-2277)aAa>aGa	p.K759R		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AAGGCAGCGAAAGAGGCGCAA	0.612000													4	69					0	0	0.00024832	0	0
MYO1H	283446	broad.mit.edu	37	12	109882024	109882024	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:109882024C>G	ENST00000310903.5	+	29	2889	c.2783C>G	c.(2782-2784)tCc>tGc	p.S928C	MYO1H_ENST00000431443.2_Missense_Mutation_p.S938C			B4DNW6	B4DNW6_HUMAN	myosin IH	119						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TAAGGTGTCTCCACTAGCAAT	0.463000													11	114					0	0	6.40141e-05	0	0
SMARCA5	8467	broad.mit.edu	37	4	144449755	144449755	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:144449755A>G	ENST00000283131.3	+	8	1439	c.977A>G	c.(976-978)gAa>gGa	p.E326G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	326	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ATAGTGAGGGAATTCAAGACT	0.368000													5	43					0	0	1.23904e-05	0	0
GRM7	2917	broad.mit.edu	37	3	7188208	7188208	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:7188208C>T	ENST00000486284.1	+	2	863	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GRM7_ENST00000402647.2_Missense_Mutation_p.R197C|GRM7_ENST00000357716.4_Missense_Mutation_p.R197C|GRM7_ENST00000403881.1_Missense_Mutation_p.R197C|GRM7_ENST00000389336.4_Missense_Mutation_p.R197C	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTTCTTCTCTCGCGTGGTGCC	0.522000													8	83					0	0	2.17888e-05	0	0
PXDNL	137902	broad.mit.edu	37	8	52320686	52320686	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:52320686C>T	ENST00000356297.4	-	17	3598	c.3498G>A	c.(3496-3498)aaG>aaA	p.K1166K	PXDNL_ENST00000543296.1_Silent_p.K1166K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1166					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTCAAAGTTCTTAACTGAAG	0.398000													11	79					0	0	3.86212e-05	0	0
AHI1	54806	broad.mit.edu	37	6	135726089	135726089	+	Splice_Site	SNP	T	T	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:135726089T>C	ENST00000367800.4	-	20	3204	c.2988_splice	c.e20+1	p.K996_splice	AHI1_ENST00000327035.6_Splice_Site_p.K996_splice|AHI1_ENST00000457866.2_Splice_Site_p.K996_splice|AHI1_ENST00000417892.2_Splice_Site_p.K350_splice	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	996						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AACTACTTACTTTTGCAGCAC	0.323000													7	36					0	0	0.000274275	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89512991	89512991	+	RNA	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:89512991C>T	ENST00000498435.1	-	0	298																											AAATCTGTCCCAGATCCACTG	0.493000													6	78					0	0	2.17888e-05	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719052	140719052	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140719052C>T	ENST00000394576.2	+	1	514	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTACGCACTCAACCCAAA	0.537000													9	77					0	0	2.17888e-05	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148930448	148930448	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:148930448G>A	ENST00000261798.5	-	1	512	c.80C>T	c.(79-81)tCc>tTc	p.S27F	CSNK1A1_ENST00000377843.2_Missense_Mutation_p.S27F|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S27F|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.S27F	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	27	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCCCCGAAGGAGCCAGACCC	0.537000													13	57					0	0	0.000219431	0	0
CWH43	80157	broad.mit.edu	37	4	49034687	49034687	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:49034687C>T	ENST00000226432.4	+	12	1796	c.1613C>T	c.(1612-1614)tCg>tTg	p.S538L	CWH43_ENST00000513409.1_Missense_Mutation_p.S511L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	538					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTAACATTTCGGGCAAGCTG	0.458000													12	87					0	0	0.000219431	0	0
SLC6A13	6540	broad.mit.edu	37	12	344274	344274	+	Silent	SNP	C	C	T	rs147679992	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:344274C>T	ENST00000343164.4	-	7	865	c.813G>A	c.(811-813)acG>acA	p.T271T	SLC6A13_ENST00000445055.2_Silent_p.T179T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	271					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCCACAGACGCGTGAGGTTTG	0.567000													12	54					0	0	0.000219431	0	0
ERF	2077	broad.mit.edu	37	19	42752930	42752930	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:42752930T>G	ENST00000222329.4	-	4	1491	c.1334A>C	c.(1333-1335)gAt>gCt	p.D445A	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.D370A	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	445					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CTCATCCTCATCACTGATGTC	0.672000													8	101					0	0	0.000274275	0	0
KCNH1	3756	broad.mit.edu	37	1	210857140	210857140	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:210857140C>T	ENST00000367007.4	-	11	2541	c.2372G>A	c.(2371-2373)gGg>gAg	p.G791E	KCNH1_ENST00000271751.4_Missense_Mutation_p.G818E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	818					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCACTCGGACCCTGGCGCCTG	0.667000													19	62					0	0	0.000229342	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023452	52023452	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:52023452G>A	ENST00000346477.3	-	7	1266	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P364S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P416S|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_3'UTR	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	416					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCTGAGATGGGGCCAGCCTCA	0.502000													20	201					0	0	0.000229342	0	0
FRY	10129	broad.mit.edu	37	13	32798442	32798442	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:32798442G>A	ENST00000380250.3	+	37	5332	c.4836G>A	c.(4834-4836)ccG>ccA	p.P1612P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCCTTACCGATGCCTTGTA	0.572000													9	54					0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21227313	21227313	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:21227313C>T	ENST00000233242.1	-	28	12042	c.11915G>A	c.(11914-11916)gGa>gAa	p.G3972E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3972					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGCGCTTTTCCTTCCCATTC	0.463000													44	360					0	0	0.000147903	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522588	96522588	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:96522588C>T	ENST00000371321.3	+	1	208	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	42					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGAAATATCCTACAGATAG	0.418000													7	63					0	0	0.000157383	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566131	19566131	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:19566131C>T	ENST00000328041.6	+	6	752	c.555C>T	c.(553-555)ggC>ggT	p.G185G		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	185						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCATCGTGGGCTCAGCGGTAT	0.532000													38	170					0	0	0.000374591	0	0
PSD2	84249	broad.mit.edu	37	5	139216804	139216804	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:139216804C>T	ENST00000274710.3	+	11	1851	c.1646C>T	c.(1645-1647)aCc>aTc	p.T549I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	549	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAAAGGGACCATCCTGTAC	0.627000													6	77					0	0	8.12818e-05	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308559	140308559	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140308559A>T	ENST00000253807.2	+	1	2082	c.2082A>T	c.(2080-2082)ttA>ttT	p.L694F	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L694F|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTTTTTATTTCTGGGGT	0.478000													9	94					0	0	6.40141e-05	0	0
CACNG2	10369	broad.mit.edu	37	22	36960482	36960482	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:36960482G>A	ENST00000300105.6	-	4	1869	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	296					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GAACCTGGAGGAAGCTGTTAT	0.612000													17	80					0	0	0.000422831	0	0
ABCB5	340273	broad.mit.edu	37	7	20768024	20768024	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:20768024G>A	ENST00000404938.2	+	23	3465	c.2813G>A	c.(2812-2814)cGa>cAa	p.R938Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R493Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	493					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAGGGTTTCGATTTGGAGCC	0.433000													26	105					0	0	7.16444e-05	0	0
MKX	283078	broad.mit.edu	37	10	28023489	28023489	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:28023489G>C	ENST00000375790.5	-	5	1166	c.734C>G	c.(733-735)aCa>aGa	p.T245R	MKX_ENST00000419761.1_Missense_Mutation_p.T245R			Q8IYA7	MKX_HUMAN	mohawk homeobox	245					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCTTTGCCTTGTTTTTCCCAT	0.443000													7	101					0	0	0.000274275	0	0
VPS13D	55187	broad.mit.edu	37	1	12336754	12336754	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:12336754G>A	ENST00000358136.3	+	19	3239	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D1037N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1037					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGCCTTCGGGATAGCAGGGC	0.488000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	55					0	0	0.000274275	0	0
ALLC	55821	broad.mit.edu	37	2	3743413	3743413	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:3743413C>T	ENST00000252505.3	+	8	780	c.618C>T	c.(616-618)gtC>gtT	p.V206V	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	225							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGGGGGTGTCTGTGTAGGAT	0.453000										HNSCC(21;0.051)			7	35					0	0	0.000157383	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278069	89278069	+	RNA	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:89278069C>T	ENST00000390247.2	-	0	362																											GAAGTCTGTCCCAGACCCACT	0.527000													9	29					0	0	0.000219431	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666880	49666880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:49666880G>A	ENST00000301072.6	+	4	1495	c.1220G>A	c.(1219-1221)tGg>tAg	p.W407*	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Nonsense_Mutation_p.W477*	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	407					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TTTGTTCACTGGTACGTGGGT	0.562000													13	89					0	0	0.000219431	0	0
IREB2	3658	broad.mit.edu	37	15	78755386	78755386	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:78755386G>A	ENST00000258886.8	+	3	378	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	IREB2_ENST00000560440.1_Missense_Mutation_p.E77K	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	77							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGCAATGTTGAAGTGCCCTT	0.363000													53	204					0	0	0.000147903	0	0
CIITA	4261	broad.mit.edu	37	16	11000685	11000685	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:11000685G>A	ENST00000324288.8	+	11	1469	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	446	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCCCAGTACGACTTTGTCTT	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								19	81					0	0	7.07596e-05	0	0
COL1A1	1277	broad.mit.edu	37	17	48263849	48263849	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:48263849G>A	ENST00000225964.5	-	49	3952	c.3834C>T	c.(3832-3834)ccC>ccT	p.P1278P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1278	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGCCTTGGTTGGGGTCAATCC	0.567000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						14	46					0	0	5.01169e-05	0	0
SLC6A14	11254	broad.mit.edu	37	X	115576098	115576098	+	Silent	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:115576098C>T	ENST00000371900.4	+	6	757	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	223					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AAGTGGCGCTCCAACGGTCAA	0.378000													10	34					0	0	6.40141e-05	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603804	140603804	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140603804C>T	ENST00000239449.4	+	1	727	c.727C>T	c.(727-729)Cct>Tct	p.P243S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P90S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		243					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGAGTTTCCTCAGAGTCT	0.507000													12	69					0	0	0.000151284	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136177	40136177	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:40136177G>A	ENST00000278198.2	-	2	3629	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R556W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R556W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R556W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	556					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)				TGGTTTTGCCGATGGTGCTGC	0.478000													6	90					0	0	3.59834e-05	0	0
ABCA9	10350	broad.mit.edu	37	17	66992103	66992103	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:66992103C>T	ENST00000340001.4	-	26	3699	c.3488G>A	c.(3487-3489)gGg>gAg	p.G1163E	ABCA9_ENST00000370732.2_Missense_Mutation_p.G1163E|ABCA9_ENST00000453985.2_Missense_Mutation_p.G1125E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1163					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAAATAGCCCTAGAAATCC	0.378000													5	69					0	0	1.23904e-05	0	0
RP1	6101	broad.mit.edu	37	8	55537765	55537765	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:55537765A>C	ENST00000220676.1	+	4	1471	c.1323A>C	c.(1321-1323)caA>caC	p.Q441H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	441					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCAAGACCAAGCAAAGCATC	0.433000													19	85					0	0	0.000175454	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534415	20534415	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:20534415C>A	ENST00000377252.3	+	13	2295	c.1454C>A	c.(1453-1455)gCc>gAc	p.A485D	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.A436D	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	485						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACATCAGCAGCCAGCATCTTC	0.443000													10	126					3.07112e-06	8.25933e-05	6.40141e-05	1	0
IL22RA1	58985	broad.mit.edu	37	1	24447909	24447909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:24447909C>T	ENST00000270800.1	-	7	1149	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	371						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AATTGAGCTTCGGGGGTCACC	0.627000													12	111					0	0	0.000308642	0	0
TPM3	7170	broad.mit.edu	37	1	154164430	154164430	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:154164430C>A	ENST00000368530.2	-	1	257	c.65G>T	c.(64-66)cGg>cTg	p.R22L	TPM3_ENST00000271850.7_Missense_Mutation_p.R22L	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	21					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTGCTCTGCCCGATCCAGAGC	0.488000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								8	128					0.000274275	0.00719485	0.000274275	1	0
PRB4	5545	broad.mit.edu	37	12	11461723	11461723	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:11461723C>T	ENST00000279575.1	-	3	227	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PRB4_ENST00000535904.1_Missense_Mutation_p.G65E|PRB4_ENST00000445719.2_Missense_Mutation_p.G65E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	65	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.622000										HNSCC(22;0.051)			17	229					0	0	9.7654e-05	0	0
LRRC66	339977	broad.mit.edu	37	4	52883637	52883637	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:52883637A>G	ENST00000343457.3	-	1	149	c.143T>C	c.(142-144)tTt>tCt	p.F48S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	48						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTTCCGGTAAAAGAACAATT	0.333000													10	52					0	0	2.17888e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82582495	82582495	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:82582495G>T	ENST00000423517.2	-	5	8111	c.7774C>A	c.(7774-7776)Cca>Aca	p.P2592T	PCLO_ENST00000333891.8_Missense_Mutation_p.P2592T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2523					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						GAATCTGTTGGAGTCCCTGGT	0.453000													12	195					1.36491e-13	3.75487e-12	0.000151284	1	0
GRM1	2911	broad.mit.edu	37	6	146720330	146720330	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:146720330A>G	ENST00000392299.2	+	8	2625	c.2155A>G	c.(2155-2157)Acc>Gcc	p.T719A	GRM1_ENST00000361719.2_Missense_Mutation_p.T719A|GRM1_ENST00000507907.1_Missense_Mutation_p.T719A|GRM1_ENST00000282753.1_Missense_Mutation_p.T719A|GRM1_ENST00000355289.4_Missense_Mutation_p.T719A|GRM1_ENST00000492807.2_Missense_Mutation_p.T719A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	719					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGTGCAACTAACCCTGGTGGT	0.517000													10	51					0	0	2.17888e-05	0	0
CNOT1	23019	broad.mit.edu	37	16	58589751	58589751	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:58589751T>A	ENST00000317147.5	-	20	2873	c.2541A>T	c.(2539-2541)gaA>gaT	p.E847D	CNOT1_ENST00000569240.1_Missense_Mutation_p.E842D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E847D|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	847					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGCTGTTTGCTTCATCATCTA	0.413000													9	59					0	0	2.17888e-05	0	0
ENPP7	339221	broad.mit.edu	37	17	77709192	77709192	+	Silent	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:77709192G>A	ENST00000328313.5	+	3	971	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	250					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.T250T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGGCATGACGACCGTGGACA	0.607000													7	61					0	0	0.000274275	0	0
PRDM1	639	broad.mit.edu	37	6	106555006	106555006	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:106555006G>A	ENST00000369096.4	+	7	2357	c.2123G>A	c.(2122-2124)gGg>gAg	p.G708E	PRDM1_ENST00000369091.2_Missense_Mutation_p.G672E|PRDM1_ENST00000369089.3_Missense_Mutation_p.G574E	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	708					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CACCTGAAAGGGAACTGCGCT	0.567000			"""D, N, Mis, F, S"""		DLBCL								26	241					0	0	0.000227799	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:88874269_88874270delCT	ENST00000303236.3	-	13	3032_3033	c.2731_2732delAG	c.(2731-2733)gfs	p.R911fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	911	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465													8	768	---	---	---	---					
CCDC148	130940	broad.mit.edu	37	2	159107283	159107284	+	Splice_Site	INS	-	-	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:159107283_159107284insT	ENST00000283233.5	-	10	1564_1565		c.e10+1		CCDC148_ENST00000409187.1_Splice_Site	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148											endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGATtttttactttttttttct	0.361													2	4	---	---	---	---					
TAP2	6891	broad.mit.edu	37	6	32797702	32797707	+	Splice_Site	DEL	GATACC	GATACC	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:32797702_32797707delGATACC	ENST00000374897.2	-	10	1926_1927	c.1795_splice	c.e10+1	p.599_splice	TAP2_ENST00000374899.4_Splice_Site_p.599_splice|TAP2_ENST00000452392.2_Splice_Site_p.599_splice	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	599	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										ATTTGTAGAAGATACCTGTGTATATT	0.466													15	154	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													5	7	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	738412	738414	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:738412_738414delTCA	ENST00000382303.1	+	12	4113_4115	c.3461_3463delTCA	c.(3460-3465)gtc>g	p.VI1154del	KANK1_ENST00000382293.3_In_Frame_Del_p.VI996del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.VI1154del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1154					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCCGCTATGTCATCAACTTGGC	0.547													7	164	---	---	---	---					
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426													2	4	---	---	---	---					
B2M	567	broad.mit.edu	37	15	45007783	45007800	+	In_Frame_Del	DEL	GCAAGGACTGGTCTTTCT	GCAAGGACTGGTCTTTCT	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:45007783_45007800delGCAAGGACTGGTCTTTCT	ENST00000558401.1	+	2	300_317	c.230_247delGCAAGGACTGGTCTTTCT	c.(229-249)aat>a	p.SKDWSFY77del	B2M_ENST00000559916.1_In_Frame_Del_p.SKDWSFY77del|B2M_ENST00000544417.1_In_Frame_Del_p.SKDWSFY77del|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	77	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.F82V(1)|p.W80*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TTGTCTTTCAGCAAGGACTGGTCTTTCTATCTCTTGTA	0.431													8	87	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73660195	73660195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:73660195delG	ENST00000261917.3	-	1	1410	c.417delC	c.(415-417)ccfs	p.P139fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	139					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTCCTCGCCGGGGGACGCGT	0.816													2	4	---	---	---	---					
C16orf58	64755	broad.mit.edu	37	16	31519172	31519172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:31519172delG	ENST00000327237.2	-	2	367	c.328delC	c.(328-330)tafs	p.L110fs	C16orf58_ENST00000430477.2_Intron|C16orf58_ENST00000567994.1_Frame_Shift_Del_p.L65fs|C16orf58_ENST00000570164.1_Frame_Shift_Del_p.L110fs			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	110						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TGGGTGGCTAGGGAGCCGGAG	0.597													2	4	---	---	---	---					
HIC1	3090	broad.mit.edu	37	17	1960405	1960407	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:1960405_1960407delGGC	ENST00000399849.2	+	2	581_583	c.421_423delGGC	c.(421-423)del	p.G148del	HIC1_ENST00000322941.3_In_Frame_Del_p.G167del	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	167					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CCACCTGCGGggcggcggcggcg	0.764													2	4	---	---	---	---					
DNAH17	8632	broad.mit.edu	37	17	76522976	76522977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:76522976_76522977insT	ENST00000389840.5	-	23	3733_3734	c.3609_3610insA	c.(3607-3612)aagccafs	p.P1204fs	DNAH17_ENST00000585328.1_Frame_Shift_Ins_p.P1201fs					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AATTGCTGGCATTTCCGCCGCA	0.629													2	4	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaaggafs	p.G305fs		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455													7	138	---	---	---	---					
ZNF44	51710	broad.mit.edu	37	19	12358257	12358257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:12358257delG	ENST00000426973.1	-	4	1457	c.1458delC	c.(1456-1458)ccfs	p.P486fs				P15621	ZNF44_HUMAN	zinc finger protein 44	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TACATTCATAGGGTTTCTCTC	0.378													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													3	3	---	---	---	---					
