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
PHLDB2	90102	broad.mit.edu	37	3	111686631	111686631	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:111686631T>A	ENST00000431670.2	+	15	3686	c.3275T>A	c.(3274-3276)aTa>aAa	p.I1092K	PHLDB2_ENST00000495180.1_Missense_Mutation_p.I583K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I1049K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.I1076K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.I1092K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.I1049K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1092						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGAAGTTAATAGAAAAGGAA	0.468000											OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0	0	0.00198382	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273385	139273385	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:139273385G>A	ENST00000298532.2	-	21	3262	c.2894C>T	c.(2893-2895)aCt>aTt	p.T965I		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	965	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGAGCCAGAAGTGCCAGGTTT	0.667000													14	23					0	0	0.000422831	0	0
PDZD8	118987	broad.mit.edu	37	10	119043244	119043244	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:119043244C>A	ENST00000334464.5	-	5	3239	c.3000G>T	c.(2998-3000)aaG>aaT	p.K1000N		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1000					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTCTCACTAACTTTATTCCTG	0.478000													88	167					2.93434e-44	1.28377e-43	0.000781405	1	0
PTPN11	5781	broad.mit.edu	37	12	112940025	112940025	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:112940025T>C	ENST00000351677.2	+	14	1875	c.1677T>C	c.(1675-1677)ccT>ccC	p.P559P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	563					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATCAGAGCCCTCTCCCGCCTT	0.428000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				5	162					0	0	0.000157383	0	0
ZNF724P	440519	broad.mit.edu	37	19	23414137	23414137	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:23414137T>A	ENST00000418100.1	-	3	274	c.157A>T	c.(157-159)Atc>Ttc	p.I53F	ZNF724P_ENST00000597037.1_Missense_Mutation_p.I53F																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AGACAGGTGATCAGGTCTGGC	0.408000													48	158					0	0	0.000781405	0	0
ZNF331	55422	broad.mit.edu	37	19	54080198	54080198	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:54080198G>A	ENST00000253144.9	+	7	1717	c.384G>A	c.(382-384)gaG>gaA	p.E128E	ZNF331_ENST00000512387.1_Silent_p.E128E|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Silent_p.E128E|ZNF331_ENST00000411977.2_Silent_p.E128E|ZNF331_ENST00000513999.1_Silent_p.E128E|ZNF331_ENST00000511154.1_Silent_p.E128E|ZNF331_ENST00000511593.2_Silent_p.E128E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATCATAAGGAGAATTCCTTTG	0.418000			T	?	follicular thyroid adenoma								41	90					0	0	0.00128727	0	0
PTBP2	58155	broad.mit.edu	37	1	97236288	97236288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:97236288G>A	ENST00000236228.6	+	5	395	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PTBP2_ENST00000541987.1_Missense_Mutation_p.E74K|PTBP2_ENST00000426398.2_Missense_Mutation_p.E105K|PTBP2_ENST00000394184.3_Missense_Mutation_p.E116K|PTBP2_ENST00000370197.1_Missense_Mutation_p.E105K|PTBP2_ENST00000370198.1_Missense_Mutation_p.E105K|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	105	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGCAACCGAGGAAGCAGCTAT	0.313000													21	55					0	0	0.00229938	0	0
GTF3C1	2975	broad.mit.edu	37	16	27544670	27544670	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:27544670A>T	ENST00000356183.4	-	5	806	c.791T>A	c.(790-792)gTc>gAc	p.V264D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522000													21	54					0	0	0.00047179	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197817	1197817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:1197817G>A	ENST00000401903.1	-	2	291	c.32C>T	c.(31-33)tCa>tTa	p.S11L	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.S11L			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	11						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		AGTCTTTTCTGAACAATGCTT	0.398000													8	398					0	0	0.000157383	0	0
DTX1	1840	broad.mit.edu	37	12	113496166	113496166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:113496166C>T	ENST00000257600.3	+	1	672	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	57	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAGGACGCTCGCGGTTCCGT	0.642000													26	101					0	0	0.00106085	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279983	47279983	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:47279983C>T	ENST00000271153.4	+	7	911	c.875C>T	c.(874-876)gCc>gTc	p.A292V	CYP4B1_ENST00000371923.4_Missense_Mutation_p.A293V|CYP4B1_ENST00000452782.2_Missense_Mutation_p.A130V|CYP4B1_ENST00000371919.4_Missense_Mutation_p.A278V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	292					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTCCTGGGTGCCCGGGTGAGT	0.582000													12	16					0	0	0.00136819	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080272	70080272	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:70080272C>G	ENST00000446444.1	-	1	177	c.169G>C	c.(169-171)Gca>Cca	p.A57P	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	57					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTGAAGATGCCAGTACAGTC	0.393000													17	214					0	0	0.000958276	0	0
TBCEL	219899	broad.mit.edu	37	11	120925792	120925792	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:120925792T>C	ENST00000422003.2	+	5	675	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TBCEL_ENST00000529397.1_Missense_Mutation_p.Y163H	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	163						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTTAATGACTATGAAACAGT	0.348000													10	46					0	0	0.000673444	0	0
ANO4	121601	broad.mit.edu	37	12	101295618	101295618	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:101295618G>A	ENST00000392979.3	+	2	416	c.55_splice	c.e2+1	p.V19_splice	ANO4_ENST00000392977.3_Splice_Site_p.E19_splice|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Splice_Site_p.E185_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	54						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTTCCACCCAGGTGATGCATG	0.443000										HNSCC(74;0.22)			29	69					0	0	0.00127121	0	0
TRIM51	84767	broad.mit.edu	37	11	55653067	55653067	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:55653067T>G	ENST00000449290.2	+	2	255	c.163T>G	c.(163-165)Tgc>Ggc	p.C55G		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	55						intracellular	zinc ion binding										GTGCTCTGAATGCAAGAAGAC	0.507000													7	38					0	0	0.00198382	0	0
P2RX1	5023	broad.mit.edu	37	17	3819557	3819557	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:3819557C>T	ENST00000225538.3	-	0	237					NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1						platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCCTGCACGGCCTCTGCT	0.677000													17	40					0	0	0.000422831	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127348	20127348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:20127348G>A	ENST00000334554.7	+	4	631	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.V164M|ZDHHC8_ENST00000320602.7_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	164						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTGGGCGTCGTGGCCTTCGG	0.602000													8	60					0	0	0.000274275	0	0
PIK3IP1	113791	broad.mit.edu	37	22	31688261	31688261	+	Splice_Site	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:31688261C>T	ENST00000215912.5	-	1	253	c.70_splice	c.e1+1	p.G24_splice	PIK3IP1_ENST00000402249.3_Splice_Site_p.G24_splice|PIK3IP1_ENST00000487265.2_Splice_Site_p.E24_splice|PIK3IP1_ENST00000441972.1_Splice_Site_p.G24_splice	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	24	Kringle.					integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						GTAATCTCACCTCCAGATCCA	0.502000											OREG0026478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	56					0	0	0.00229938	0	0
VPS13A	23230	broad.mit.edu	37	9	79955422	79955422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:79955422G>A	ENST00000360280.3	+	50	7242	c.6982G>A	c.(6982-6984)Gct>Act	p.A2328T	VPS13A_ENST00000357409.5_Missense_Mutation_p.A2328T|VPS13A_ENST00000376634.4_Missense_Mutation_p.A2328T|VPS13A_ENST00000376636.3_Missense_Mutation_p.A2289T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2328					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATCAGTGGCTGAAGAAGG	0.338000													17	56					0	0	0.00074312	0	0
PCLO	27445	broad.mit.edu	37	7	82585666	82585666	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:82585666A>G	ENST00000423517.2	-	5	4940	c.4603T>C	c.(4603-4605)Tca>Cca	p.S1535P	PCLO_ENST00000333891.8_Missense_Mutation_p.S1535P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1466					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						CTGCTTGATGAGCCAACACTA	0.403000													6	83					0	0	0.00116845	0	0
LRRC6	23639	broad.mit.edu	37	8	133596002	133596002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:133596002G>A	ENST00000519595.1	-	11	1263	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	LRRC6_ENST00000250173.1_Nonsense_Mutation_p.Q389*|LRRC6_ENST00000518642.1_Nonsense_Mutation_p.Q386*			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	389	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATGCTCGCTGACCACCTGTG	0.378000													33	42					0	0	0.00209593	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674022	70674022	+	Silent	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:70674022A>G	ENST00000260126.3	-	3	1702	c.996T>C	c.(994-996)aaT>aaC	p.N332N	SLCO5A1_ENST00000524945.1_Silent_p.N332N|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.N332N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	332						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGTGAACAGGATTTCTGGGAT	0.378000													4	55					0	0	0.000602214	0	0
AOC1	26	broad.mit.edu	37	7	150556008	150556008	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:150556008C>T	ENST00000493429.1	+	5	2312	c.1728C>T	c.(1726-1728)taC>taT	p.Y576Y	AOC1_ENST00000360937.4_Silent_p.Y576Y|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Silent_p.Y576Y|AOC1_ENST00000467291.1_Silent_p.Y576Y					amine oxidase, copper containing 1																		TGCCTAAGTACCTGCTCTTTA	0.652000													5	36					0	0	0.000157383	0	0
FBXL13	222235	broad.mit.edu	37	7	102453908	102453908	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:102453908A>G	ENST00000393772.2	-	19	2431	c.2005T>C	c.(2005-2007)Ttt>Ctt	p.F669L	FBXL13_ENST00000379308.3_Missense_Mutation_p.F652L|FBXL13_ENST00000456695.1_Missense_Mutation_p.F415L|FBXL13_ENST00000436908.1_Missense_Mutation_p.F697L|FBXL13_ENST00000313221.4_Missense_Mutation_p.F697L|FBXL13_ENST00000379306.3_Missense_Mutation_p.F415L|FBXL13_ENST00000379305.3_Missense_Mutation_p.F669L|FBXL13_ENST00000455112.2_Missense_Mutation_p.F652L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	697										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATAGCCAAACCAACGTGGA	0.408000													12	117					0	0	0.00244969	0	0
OBSCN	84033	broad.mit.edu	37	1	228548417	228548417	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:228548417C>T	ENST00000284548.11	+	81	19898	c.19824C>T	c.(19822-19824)atC>atT	p.I6608I	OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.I3727I|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTTCACATCTGCCCAGACA	0.632000													17	29					0	0	0.000422831	0	0
PCSK7	9159	broad.mit.edu	37	11	117095455	117095455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:117095455C>T	ENST00000320934.3	-	7	1507	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	293	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCTTCCCATCGTCATCTGGT	0.577000			T	IGH@	MLCLS								50	191					0	0	0.000781405	0	0
MED12	9968	broad.mit.edu	37	X	70350030	70350030	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:70350030A>G	ENST00000333646.6	+	28	4212	c.4013A>G	c.(4012-4014)aAc>aGc	p.N1338S	MED12_ENST00000374080.3_Missense_Mutation_p.N1338S|MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.N1338S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1338					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGGGGAAAACCCCCAGCGG	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						2	11					0	0	6.4e-05	0	0
OR6K2	81448	broad.mit.edu	37	1	158669807	158669807	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:158669807C>T	ENST00000359610.2	-	1	679	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGATGAGCATCACAGCTGTAA	0.498000													24	99					0	0	0.00047179	0	0
PTPRC	5788	broad.mit.edu	37	1	198665840	198665840	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:198665840G>A	ENST00000367376.2	+	4	265		c.e4-1		PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000352140.3_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAATTAACAGGATTGACTAC	0.418000													32	83					0	0	0.00209593	0	0
PHTF1	10745	broad.mit.edu	37	1	114267424	114267424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:114267424C>T	ENST00000369604.1	-	7	1063	c.580G>A	c.(580-582)Gta>Ata	p.V194I	PHTF1_ENST00000357783.2_Missense_Mutation_p.V194I|PHTF1_ENST00000369596.2_Missense_Mutation_p.V141I|PHTF1_ENST00000393357.2_Missense_Mutation_p.V194I|PHTF1_ENST00000369600.1_Missense_Mutation_p.V141I|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000447664.2_Missense_Mutation_p.V194I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATGGGTACAGATTCCAAA	0.353000													25	42					0	0	0.00047179	0	0
RIMS4	140730	broad.mit.edu	37	20	43385559	43385559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:43385559G>A	ENST00000372851.3	-	5	637	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	RIMS4_ENST00000541604.2_Missense_Mutation_p.P192S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	191	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.P191T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTGCCCTGGGGACTCTCAGGA	0.567000													139	217					0	0	0.000781405	0	0
GFRA1	2674	broad.mit.edu	37	10	118030435	118030435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:118030435G>A	ENST00000439649.3	-	3	600	c.233C>T	c.(232-234)gCc>gTc	p.A78V	GFRA1_ENST00000369236.1_Missense_Mutation_p.A78V|GFRA1_ENST00000355422.6_Missense_Mutation_p.A78V	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	78					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGCTTCAGGGCCTCCATGGC	0.602000													13	34					0	0	0.00185496	0	0
CHD3	1107	broad.mit.edu	37	17	7802768	7802768	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:7802768G>A	ENST00000380358.4	+	15	2629	c.2628G>A	c.(2626-2628)acG>acA	p.T876T	CHD3_ENST00000330494.7_Silent_p.T817T|CHD3_ENST00000358181.4_Silent_p.T817T	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	817	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGACATACACGGGTGACAAGG	0.498000													43	78					0	0	0.00222228	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46096159	46096159	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46096159C>A	ENST00000355105.3	-	11	2524	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E388D|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTTACCTGTGCTCTGCTTCTA	0.488000													20	69					7.41877e-09	3.03495e-08	0.00188189	1	0
KIF5C	3800	broad.mit.edu	37	2	149806405	149806405	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:149806405A>G	ENST00000435030.1	+	9	1135	c.767A>G	c.(766-768)aAt>aGt	p.N256S	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.N161S|KIF5C_ENST00000397413.1_Missense_Mutation_p.N24S			O60282	KIF5C_HUMAN	kinesin family member 5C	256	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAATATCAATAAGTCTTTG	0.453000													9	44					0	0	0.000442599	0	0
LAMA1	284217	broad.mit.edu	37	18	6956637	6956637	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:6956637G>A	ENST00000389658.3	-	56	8185	c.8092C>T	c.(8092-8094)Cca>Tca	p.P2698S	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2698					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCCTACTGGAAAAGCCCGG	0.572000													13	77					0	0	0.00185496	0	0
TUBD1	51174	broad.mit.edu	37	17	57951968	57951968	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:57951968G>A	ENST00000325752.3	-	6	1143	c.866C>T	c.(865-867)aCa>aTa	p.T289I	TUBD1_ENST00000394239.3_Missense_Mutation_p.T289I|TUBD1_ENST00000539018.1_Missense_Mutation_p.T73I|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.T289I	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	289					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CCAAGTAAATGTGGTGTATGC	0.423000													31	218					0	0	0.00127121	0	0
SYNE2	23224	broad.mit.edu	37	14	64522880	64522880	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr14:64522880C>T	ENST00000358025.3	+	49	10193	c.9963C>T	c.(9961-9963)tcC>tcT	p.S3321S	SYNE2_ENST00000344113.4_Silent_p.S3321S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S3354S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3321					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATGATATCCAGCCCCGAAG	0.433000													8	31					0	0	0.000157383	0	0
SLC52A3	113278	broad.mit.edu	37	20	744241	744241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:744241G>A	ENST00000381944.3	-	3	1215	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC52A3_ENST00000217254.7_Missense_Mutation_p.S325F|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	325					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GGACAGGCAGGAGTAGGTCTG	0.627000													22	118					0	0	0.000586117	0	0
VPS4B	9525	broad.mit.edu	37	18	61074674	61074674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:61074674G>A	ENST00000238497.5	-	4	558	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	VPS4B_ENST00000591519.1_Nonsense_Mutation_p.Q119*	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	119					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CCTTGAAGTTGATTCTGTAGT	0.289000													5	14					0	0	0.000602214	0	0
MAPK13	5603	broad.mit.edu	37	6	36106785	36106785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:36106785T>C	ENST00000211287.4	+	11	1233	c.971T>C	c.(970-972)tTt>tCt	p.F324S	MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.F314S	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	324					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CAGCAGCCGTTTGATGATTCC	0.602000													15	39					0	0	0.000308642	0	0
SELO	83642	broad.mit.edu	37	22	50654274	50654274	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:50654274T>C	ENST00000380903.2	+	6	1538	c.1480T>C	c.(1480-1482)Ttc>Ctc	p.F494L	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					GAGGCTGGCCTTCCGGCCCCA	0.582000													19	58					0	0	0.00278032	0	0
DNAH5	1767	broad.mit.edu	37	5	13817734	13817734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:13817734C>T	ENST00000265104.4	-	42	7015	c.6911G>A	c.(6910-6912)cGg>cAg	p.R2304Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2304	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACGTCCAGCCGACCAAACAT	0.403000									Kartagener syndrome				27	48					0	0	0.00127121	0	0
UBR1	197131	broad.mit.edu	37	15	43360173	43360173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr15:43360173C>T	ENST00000290650.4	-	6	799	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	UBR1_ENST00000382177.2_Missense_Mutation_p.V241I	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	241					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTGTATATGACGTGGTCATAT	0.388000													11	83					0	0	0.000673444	0	0
LRRC41	10489	broad.mit.edu	37	1	46751227	46751227	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46751227T>C	ENST00000343304.6	-	4	1587	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	434										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACAAGCCACTTCCCCAATCT	0.547000													34	57					0	0	0.00209593	0	0
AGPS	8540	broad.mit.edu	37	2	178388494	178388494	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:178388494A>G	ENST00000264167.4	+	19	1962	c.1816A>G	c.(1816-1818)Atc>Gtc	p.I606V	AGPS_ENST00000409888.1_Missense_Mutation_p.I137V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	606					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TAGAGAAGAAATCCTTGCTAA	0.358000													18	58					0	0	0.00188189	0	0
NDUFS1	4719	broad.mit.edu	37	2	206988923	206988923	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:206988923G>A	ENST00000233190.5	-	19	2436	c.2170C>T	c.(2170-2172)Cca>Tca	p.P724S	NDUFS1_ENST00000423725.1_Missense_Mutation_p.P667S|NDUFS1_ENST00000457011.1_Missense_Mutation_p.P608S|NDUFS1_ENST00000455934.2_Missense_Mutation_p.P738S|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P724S|NDUFS1_ENST00000440274.1_Missense_Mutation_p.P688S|NDUFS1_ENST00000432169.1_Missense_Mutation_p.P613S	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	724					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CATATGGATGGTTCCTCTACT	0.418000													15	46					0	0	0.000566183	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839984	27839984	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:27839984T>A	ENST00000328488.2	-	1	115	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGCTTCTTGACGCCACC	0.672000													16	68					0	0	0.000422831	0	0
IDO1	3620	broad.mit.edu	37	8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					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)	GGAGATGTCCGTAAGGTTTGG	0.393000													16	80					0	0	0.000566183	0	0
ENOSF1	55556	broad.mit.edu	37	18	683302	683302	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:683302A>C	ENST00000319815.6	-	3	1394	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G	ENOSF1_ENST00000251101.7_Missense_Mutation_p.W274G|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.W192G|ENOSF1_ENST00000340116.7_Missense_Mutation_p.W295G|ENOSF1_ENST00000580982.1_Missense_Mutation_p.W198G			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	274					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TCCTCAATCCACAATGGCTTG	0.532000													35	73					0	0	0.000814825	0	0
NRGN	4900	broad.mit.edu	37	11	124615418	124615418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:124615418C>T	ENST00000526916.2	+	2	175	c.35C>T	c.(34-36)cCg>cTg	p.P12L	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000284292.5_Missense_Mutation_p.P12L|NRGN_ENST00000412681.1_Missense_Mutation_p.P12L			Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	12					nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCTCCAAGCCGGACGACGAC	0.647000													9	56					0	0	0.000442599	0	0
SH3D21	79729	broad.mit.edu	37	1	36785374	36785374	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:36785374C>T	ENST00000453908.2	+	14	1138	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	SH3D21_ENST00000312808.4_Silent_p.N16N|SH3D21_ENST00000505871.1_Silent_p.N259N|SH3D21_ENST00000426732.2_Silent_p.N254N	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	254										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CTCCAGAGAACGCCCCCAGCT	0.622000													12	23					0	0	0.000978159	0	0
KRT39	390792	broad.mit.edu	37	17	39118751	39118751	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:39118751G>A	ENST00000355612.2	-	4	808	c.773C>T	c.(772-774)tCt>tTt	p.S258F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	258	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TAGGTCAGCAGAAGGGGCAGC	0.448000													129	256					0	0	0.000781405	0	0
MYH10	4628	broad.mit.edu	37	17	8398540	8398540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:8398540G>A	ENST00000360416.3	-	31	4109	c.3971C>T	c.(3970-3972)tCc>tTc	p.S1324F	MYH10_ENST00000396239.1_Missense_Mutation_p.S1314F|MYH10_ENST00000379980.4_Missense_Mutation_p.S1309F|MYH10_ENST00000269243.4_Missense_Mutation_p.S1293F	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1293					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAGAAGGGTGGAGACATTATC	0.413000													11	22					0	0	0.00136819	0	0
GIPC1	10755	broad.mit.edu	37	19	14593541	14593541	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:14593541T>C	ENST00000393033.4	-	4	517	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	GIPC1_ENST00000345425.2_Missense_Mutation_p.Y83C|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Missense_Mutation_p.Y83C|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393029.3_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	83					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						GATCTTGCCATACAGCTCCTT	0.682000													8	26					0	0	0.000157383	0	0
PTPN11	5781	broad.mit.edu	37	12	112940027	112940027	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:112940027T>C	ENST00000351677.2	+	14	1877	c.1679T>C	c.(1678-1680)cTc>cCc	p.L560P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	564					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAGCCCTCTCCCGCCTTGT	0.428000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				5	164					0	0	0.00198382	0	0
NR2E1	7101	broad.mit.edu	37	6	108502785	108502785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:108502785C>T	ENST00000368986.4	+	8	1633	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	NR2E1_ENST00000368983.3_Missense_Mutation_p.R346W	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	309	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GAGAAGTTTCCGGAATGCTGC	0.483000													16	60					0	0	0.000958276	0	0
C10orf12	26148	broad.mit.edu	37	10	98742212	98742212	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:98742212C>T	ENST00000286067.2	+	1	1172	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	355										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGTGTACCCCAGGACTGTC	0.522000													37	80					0	0	0.000953801	0	0
AK5	26289	broad.mit.edu	37	1	77806144	77806144	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:77806144A>G	ENST00000344720.5	+	6	1730	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	AK5_ENST00000354567.2_Missense_Mutation_p.Q261R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	261					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCAGAACAGCAGGGCCGACCA	0.468000													24	91					0	0	0.00047179	0	0
CLCF1	23529	broad.mit.edu	37	11	67134940	67134940	+	Silent	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:67134940A>T	ENST00000312438.7	-	2	371	c.174T>A	c.(172-174)gcT>gcA	p.A58A	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Silent_p.A48A|CLCF1_ENST00000528474.1_Silent_p.A48A	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	58					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CATAGGTCCCAGCCAAGCTGC	0.577000													38	68					0	0	0.00128727	0	0
TJP1	7082	broad.mit.edu	37	15	30008972	30008972	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr15:30008972C>T	ENST00000346128.6	-	23	4519	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	TJP1_ENST00000545208.2_Missense_Mutation_p.E1269K|TJP1_ENST00000400011.2_Missense_Mutation_p.E1273K|TJP1_ENST00000356107.6_Missense_Mutation_p.E1349K	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1349					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCATCTTCTTCAGGGTCATAA	0.428000													9	46					0	0	0.000442599	0	0
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448000													4	82					0	0	0.00024832	0	0
MGP	4256	broad.mit.edu	37	12	15035958	15035958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:15035958C>T	ENST00000539261.1	-	3	252	c.118G>A	c.(118-120)Gca>Aca	p.A40T	MGP_ENST00000228938.5_Missense_Mutation_p.A65T|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	40					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						AAGGTATTTGCATTTCTCCTG	0.383000													11	32					0	0	0.000978159	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940829	52940829	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:52940829G>C	ENST00000371544.3	-	13	2664	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S801C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	801					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						TTTGCTGGTAGAAAGAGATGA	0.358000													23	133					0	0	0.00229938	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	98					0	0	0.000602214	0	0
C22orf42	150297	broad.mit.edu	37	22	32545757	32545757	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:32545757C>T	ENST00000382097.3	-	8	737	c.665G>A	c.(664-666)aGa>aAa	p.R222K	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	222										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATCTTCATATCTCTCCTTTGC	0.338000													9	48					0	0	0.000442599	0	0
PRPF4B	8899	broad.mit.edu	37	6	4052307	4052307	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:4052307G>A	ENST00000337659.6	+	10	2391	c.2291G>A	c.(2290-2292)tGt>tAt	p.C764Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.C750Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	764	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGCATCTTTGTCTGGTATTC	0.353000													20	38					0	0	0.00188189	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303096	117303096	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:117303096G>A	ENST00000321322.6	-	30	5332	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	DSCAML1_ENST00000527706.1_Silent_p.I1507I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1717					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGACATGTCGATGAGGGGTC	0.572000													6	42					0	0	0.00116845	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964789	88964789	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:88964789C>T	ENST00000333190.4	+	4	3102	c.2493C>T	c.(2491-2493)aaC>aaT	p.N831N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	831						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGATTCTAACTCACAGATTT	0.373000										HNSCC(36;0.09)			14	43					0	0	0.00244969	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098107	220098107	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:220098107C>T	ENST00000323348.5	+	7	945	c.771C>T	c.(769-771)caC>caT	p.H257H	ANKZF1_ENST00000410034.3_Silent_p.H257H|ANKZF1_ENST00000409849.1_Silent_p.H47H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	257						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCATCACACTCTGCTGGAG	0.522000													17	52					0	0	0.000566183	0	0
MASP1	5648	broad.mit.edu	37	3	186953699	186953699	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:186953699C>T	ENST00000296280.6	-	11	2185	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E541K|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	636	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGCCGCCCTCGTAGTAGCCA	0.577000													15	66					0	0	0.00244969	0	0
OR1L8	138881	broad.mit.edu	37	9	125330736	125330736	+	Silent	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:125330736G>T	ENST00000304865.2	-	1	102	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGACACTGCTGGTGTGGTTGA	0.448000													7	54					2.74318e-10	1.13698e-09	0.000442599	1	0
GAS2L2	246176	broad.mit.edu	37	17	34077293	34077293	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:34077293C>A	ENST00000254466.6	-	2	457	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.V144L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	144	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGTTCTTCACGTTCTTGCGC	0.642000													34	235					6.29468e-14	2.67949e-13	0.000953801	1	0
HOXA11	3207	broad.mit.edu	37	7	27224479	27224479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:27224479C>A	ENST00000006015.3	-	1	356	c.285G>T	c.(283-285)caG>caT	p.Q95H	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	95					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CGCTGGGCGCCTGCAGGCAGT	0.657000			T	NUP98	CML								15	54					6.72482e-11	2.80572e-10	0.000308642	1	0
SOX11	6664	broad.mit.edu	37	2	5833737	5833737	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:5833737A>T	ENST00000322002.3	+	1	939	c.884A>T	c.(883-885)gAc>gTc	p.D295V		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	295					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCCTCTACGACGAGGTGCGG	0.711000													3	5					0	0	0.00024832	0	0
LCT	3938	broad.mit.edu	37	2	136570169	136570169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:136570169G>A	ENST00000264162.2	-	7	2075	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	689	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGATGAGGCGGGAGGTGTAA	0.557000													20	55					0	0	0.00188189	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839869	27839869	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:27839869T>A	ENST00000356790.2	+	3	691	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	149	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGAGCCAGTTCCCTGTAATC	0.438000													23	30					0	0	0.00229938	0	0
LGR4	55366	broad.mit.edu	37	11	27397864	27397864	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:27397864A>G	ENST00000379214.4	-	13	1606	c.1163T>C	c.(1162-1164)cTg>cCg	p.L388P	LGR4_ENST00000389858.4_Missense_Mutation_p.L364P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	388						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAGAGATATCAGGCCTTGAAA	0.294000													3	123					0	0	0.00024832	0	0
NFX1	4799	broad.mit.edu	37	9	33294473	33294473	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:33294473T>A	ENST00000379540.3	+	2	143	c.81T>A	c.(79-81)aaT>aaA	p.N27K	NFX1_ENST00000318524.6_Missense_Mutation_p.N27K|NFX1_ENST00000379521.4_Missense_Mutation_p.N27K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	27					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGAAAAAAAATTCTGGTCTAA	0.383000													84	104					0	0	0.000781405	0	0
NHLRC4	283948	broad.mit.edu	37	16	618123	618123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:618123G>A	ENST00000424439.2	+	2	733	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NHLRC4_ENST00000540585.1_Missense_Mutation_p.D26N|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	26																	GGAGTTTGGGGATGTGAGGCT	0.687000													6	14					0	0	0.00198382	0	0
SP5	389058	broad.mit.edu	37	2	171573597	171573597	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:171573597A>C	ENST00000375281.3	+	2	1042	c.880A>C	c.(880-882)Aag>Cag	p.K294Q		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GGGGAAGAAGAAGCAGCACGT	0.741000													3	9					0	0	0.00024832	0	0
RXFP1	59350	broad.mit.edu	37	4	159573014	159573014	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:159573014G>A	ENST00000307765.5	+	18	2332	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	RXFP1_ENST00000343542.5_Missense_Mutation_p.R646Q|RXFP1_ENST00000460056.2_Missense_Mutation_p.R613Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.R661Q|RXFP1_ENST00000448688.2_Missense_Mutation_p.R589Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	694						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGATTCATCGGTTTTGGTAT	0.393000													21	54					0	0	0.00152264	0	0
PDE10A	10846	broad.mit.edu	37	6	165806230	165806230	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:165806230G>A	ENST00000366882.1	-	17	1685	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	PDE10A_ENST00000354448.4_Missense_Mutation_p.R511W|PDE10A_ENST00000539869.2_Missense_Mutation_p.R521W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	511					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAAGGAACCCGCCGATAGTTC	0.428000													6	41					0	0	0.00116845	0	0
MCCC2	64087	broad.mit.edu	37	5	70927976	70927976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:70927976C>T	ENST00000340941.6	+	8	896	c.767C>T	c.(766-768)tCt>tTt	p.S256F	MCCC2_ENST00000323375.8_Missense_Mutation_p.S218F|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.S256F	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	256	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGAAGTATCTGCTGAGGAT	0.398000													18	70					0	0	0.000958276	0	0
CPXM2	119587	broad.mit.edu	37	10	125530495	125530495	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:125530495T>C	ENST00000241305.3	-	8	1193	c.1039A>G	c.(1039-1041)Agc>Ggc	p.S347G	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCCTGGTGGCTTTTTCCAATG	0.458000													4	337					0	0	0.00024832	0	0
CSPG5	10675	broad.mit.edu	37	3	47618893	47618893	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:47618893A>T	ENST00000383738.2	-	2	2721	c.623T>A	c.(622-624)aTt>aAt	p.I208N	CSPG5_ENST00000456150.1_Missense_Mutation_p.I70N|CSPG5_ENST00000264723.4_Missense_Mutation_p.I208N	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	208					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCGATGTCAATGATATCTGA	0.587000													13	24					0	0	0.00136819	0	0
MST1R	4486	broad.mit.edu	37	3	49933239	49933239	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:49933239C>T	ENST00000296474.3	-	12	2898	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	MST1R_ENST00000344206.4_Silent_p.T908T	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	957					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.T957T(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TACCAAGGAGCGTGCTCTGTG	0.607000													6	46					0	0	0.00116845	0	0
MYO10	4651	broad.mit.edu	37	5	16682073	16682073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:16682073C>T	ENST00000513610.1	-	31	4550	c.4096G>A	c.(4096-4098)Gcc>Acc	p.A1366T	MYO10_ENST00000427430.2_Missense_Mutation_p.A723T|MYO10_ENST00000515803.1_Missense_Mutation_p.A705T|MYO10_ENST00000505695.1_Missense_Mutation_p.A705T|MYO10_ENST00000274203.9_Missense_Mutation_p.A723T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1366					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCGTGTCGGCGTTGCAGTGC	0.577000													22	110					0	0	0.00047179	0	0
ODF2	4957	broad.mit.edu	37	9	131247076	131247076	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:131247076A>T	ENST00000303890.5	+	14	1714	c.1129A>T	c.(1129-1131)Agc>Tgc	p.S377C	ODF2_ENST00000372791.3_Missense_Mutation_p.S382C|ODF2_ENST00000372814.3_Missense_Mutation_p.S445C|ODF2_ENST00000351030.3_Missense_Mutation_p.S396C|ODF2_ENST00000448249.3_Missense_Mutation_p.S320C|ODF2_ENST00000546203.1_Missense_Mutation_p.S382C|ODF2_ENST00000372807.5_Missense_Mutation_p.S396C|ODF2_ENST00000444119.2_Missense_Mutation_p.S377C|ODF2_ENST00000393533.2_Missense_Mutation_p.S401C|ODF2_ENST00000434106.2_Missense_Mutation_p.S401C|ODF2_ENST00000372796.4_Missense_Mutation_p.S401C	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	401					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGACAAAGAGAGCTTGAAGAA	0.577000													5	16					0	0	0.000602214	0	0
MMP20	9313	broad.mit.edu	37	11	102480739	102480739	+	Silent	SNP	G	G	A	rs148659857	byFrequency	TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:102480739G>A	ENST00000260228.2	-	4	558	c.546C>T	c.(544-546)ttC>ttT	p.F182F	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	182					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAGGCCCATCGAATGGATAGG	0.498000													8	40					0	0	0.000157383	0	0
RBPJ	3516	broad.mit.edu	37	4	26407892	26407892	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:26407892G>A	ENST00000342320.4	+	3	328	c.152_splice	c.e3+1	p.R51_splice	RBPJ_ENST00000342295.1_Splice_Site_p.R65_splice|RBPJ_ENST00000345843.3_Splice_Site_p.R50_splice|RBPJ_ENST00000361572.6_Splice_Site_p.R65_splice|RBPJ_ENST00000348160.4_Splice_Site_p.R52_splice|RBPJ_ENST00000355476.3_Splice_Site_p.R51_splice|RBPJ_ENST00000507561.1_Splice_Site_p.R30_splice|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Splice_Site_p.R51_splice			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	65					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATGAAAAAAGGTAAGATTAT	0.333000													56	37					0	0	0.000781405	0	0
ZNF12	7559	broad.mit.edu	37	7	6731206	6731206	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:6731206T>C	ENST00000405858.1	-	5	1908	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	ZNF12_ENST00000404360.1_Missense_Mutation_p.Y382C|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y418C	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	456					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATGAGTTCTATAATGTACAGT	0.433000													17	49					0	0	0.00074312	0	0
TACC3	10460	broad.mit.edu	37	4	1746264	1746264	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:1746264A>G	ENST00000313288.4	+	14	2349	c.2243A>G	c.(2242-2244)aAg>aGg	p.K748R		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	748						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCACTGAAGAAGTGCGTGGAG	0.612000													41	21					0	0	0.00222228	0	0
ALPPL2	251	broad.mit.edu	37	2	233272011	233272011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:233272011C>T	ENST00000295453.3	+	3	252	c.200C>T	c.(199-201)aCg>aTg	p.T67M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	67					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGGGTGTCTACGGTGACAGCT	0.627000													22	59					0	0	0.00152264	0	0
RNF103	7844	broad.mit.edu	37	2	86831161	86831161	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:86831161A>C	ENST00000237455.4	-	4	2831	c.1863T>G	c.(1861-1863)tgT>tgG	p.C621W	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	621					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGCAAACAACACATTCAGTAC	0.423000													22	166					0	0	0.00229938	0	0
DPP6	1804	broad.mit.edu	37	7	154172049	154172049	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:154172049G>T	ENST00000404039.1	+	3	779	c.192G>T	c.(190-192)aaG>aaT	p.K64N	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.K66N|DPP6_ENST00000406326.1_Missense_Mutation_p.K128N|DPP6_ENST00000427557.1_Missense_Mutation_p.K66N|DPP6_ENST00000377770.3_Missense_Mutation_p.K128N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	128					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGTCTCAAAAGAAGAAGGTCA	0.378000													17	48					3.99206e-14	1.71088e-13	0.000958276	1	0
XKRX	402415	broad.mit.edu	37	X	100183281	100183281	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:100183281A>G	ENST00000328526.5	-	1	617	c.52T>C	c.(52-54)Tat>Cat	p.Y18H	XKRX_ENST00000372956.2_Missense_Mutation_p.Y5H|XKRX_ENST00000468904.1_Missense_Mutation_p.Y5H	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	5						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGAATTTCATAAACTCTGTCC	0.488000													72	65					0	0	0.000781405	0	0
STAT5B	6777	broad.mit.edu	37	17	40359689	40359689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:40359689G>T	ENST00000293328.3	-	16	2132	c.1964C>A	c.(1963-1965)tCc>tAc	p.S655Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	655	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTCGGCTAGGGACCGAATGGA	0.418000													13	46					7.03913e-09	2.89846e-08	0.00136819	1	0
MTHFR	4524	broad.mit.edu	37	1	11854027	11854027	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:11854027G>A	ENST00000376592.1	-	8	1595	c.1467C>T	c.(1465-1467)aaC>aaT	p.N489N	MTHFR_ENST00000376583.3_Silent_p.N530N|MTHFR_ENST00000376585.1_Silent_p.N530N|MTHFR_ENST00000376590.3_Silent_p.N489N			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	489					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACGGCTTCCCGTTGATGTTGG	0.657000													35	73					0	0	0.0024448	0	0
SMG1	23049	broad.mit.edu	37	16	18828771	18828771	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:18828771T>C	ENST00000446231.2	-	57	10328	c.9916A>G	c.(9916-9918)Atc>Gtc	p.I3306V	SMG1_ENST00000389467.3_Missense_Mutation_p.I3307V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3306					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAATGAATGATATTGCTGCAG	0.413000													2	8					0	0	6.4e-05	0	0
WARS2	10352	broad.mit.edu	37	1	119683180	119683180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:119683180G>A	ENST00000369426.5	-	1	91	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000235521.4_Nonsense_Mutation_p.Q30*|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000440150.1_RNA			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	30					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTGGTTACCTGGAGAGCGGGA	0.597000													6	31					0	0	0.00116845	0	0
NUP107	57122	broad.mit.edu	37	12	69083344	69083344	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:69083344T>C	ENST00000539906.1	+	3	261	c.17T>C	c.(16-18)aTa>aCa	p.I6T	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000229179.4_Silent_p.N44N			P57740	NU107_HUMAN	nucleoporin 107kDa	0					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTTTGGTAATACTACACCAA	0.328000													16	48					0	0	0.00188189	0	0
TP53	7157	broad.mit.edu	37	17	7579378	7579378	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:7579378G>C	ENST00000420246.2	-	4	441	c.309C>G	c.(307-309)taC>taG	p.Y103*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1 (By similarity).|Interaction with WWOX.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCCCTGGTAGGTTTTCT	0.637000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	46					0	0	0.00106085	0	0
SNTB1	6641	broad.mit.edu	37	8	121706116	121706116	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:121706116T>C	ENST00000395601.3	-	3	1018	c.604A>G	c.(604-606)Aag>Gag	p.K202E	SNTB1_ENST00000517992.1_Missense_Mutation_p.K202E|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	202	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCCTTTCTTCACATAGGGC	0.517000													21	86					0	0	0.000720815	0	0
LAMC1	3915	broad.mit.edu	37	1	183106849	183106849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:183106849G>A	ENST00000258341.4	+	26	4617	c.4360G>A	c.(4360-4362)Gtt>Att	p.V1454I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1454	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGCAGAAGTTACAGATCT	0.383000													8	39					0	0	0.000157383	0	0
METAP1D	254042	broad.mit.edu	37	2	172942597	172942597	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:172942597T>C	ENST00000315796.4	+	7	1164	c.777T>C	c.(775-777)caT>caC	p.H259H	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	259					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CTTACTTTCATGGACATCCAG	0.383000													22	40					0	0	0.00278032	0	0
NUP88	4927	broad.mit.edu	37	17	5290067	5290067	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:5290067G>A	ENST00000573584.1	-	16	2632	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	708					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCGCTGGTAGGCACTGAGAAT	0.368000													32	46					0	0	0.00058488	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46096158	46096158	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46096158G>A	ENST00000355105.3	-	11	2525	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.H389Y|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACTTACCTGTGCTCTGCTTCT	0.488000													18	69					0	0	0.00121646	0	0
PLXNA1	5361	broad.mit.edu	37	3	126752808	126752808	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:126752808G>A	ENST00000251772.4	+	31	5639	c.5570G>A	c.(5569-5571)cGg>cAg	p.R1857Q	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1880Q			Q9UIW2	PLXA1_HUMAN	plexin A1	1880					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)		CGGCGGCAGCGGCTGCGGAGC	0.652000													4	16					0	0	0.00116845	0	0
KAT6B	23522	broad.mit.edu	37	10	76788252	76788252	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:76788252A>G	ENST00000287239.4	+	18	4159	c.3670A>G	c.(3670-3672)Atg>Gtg	p.M1224V	KAT6B_ENST00000372714.1_Missense_Mutation_p.M932V|KAT6B_ENST00000372725.1_Missense_Mutation_p.M932V|KAT6B_ENST00000372711.1_Missense_Mutation_p.M1041V|KAT6B_ENST00000372724.1_Missense_Mutation_p.M932V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1224					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTAAGACAATATGAATGATGA	0.373000													16	116					0	0	0.000308642	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027417	26027417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:26027417C>T	ENST00000377364.3	-	1	63	c.64G>A	c.(64-66)Gtg>Atg	p.V22M		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	22					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TCCCGCAGCACTTTTCGGTGA	0.532000													10	64					0	0	0.000673444	0	0
EVI5L	115704	broad.mit.edu	37	19	7916351	7916351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:7916351G>A	ENST00000270530.4	+	7	981	c.785G>A	c.(784-786)cGt>cAt	p.R262H	EVI5L_ENST00000538904.2_Missense_Mutation_p.R262H	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	262	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACCCACTTCCGTTCCCAAAGC	0.647000													39	81					0	0	0.00111076	0	0
PYGM	5837	broad.mit.edu	37	11	64519456	64519456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:64519456G>A	ENST00000164139.3	-	14	2106	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.R482W	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	570					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCGTGAATCCGCTTCACCTGG	0.512000													15	81					0	0	0.000308642	0	0
DPP6	1804	broad.mit.edu	37	7	154561189	154561189	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:154561189G>A	ENST00000404039.1	+	9	1341	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	DPP6_ENST00000332007.3_Missense_Mutation_p.A254T|DPP6_ENST00000427557.1_Missense_Mutation_p.A209T|DPP6_ENST00000377770.3_Missense_Mutation_p.A316T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	316					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACTCGCCTACGCCGCCATCAA	0.522000													12	65					0	0	0.00136819	0	0
FAT1	2195	broad.mit.edu	37	4	187540845	187540845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:187540845C>A	ENST00000441802.2	-	10	7104	c.6895G>T	c.(6895-6897)Gga>Tga	p.G2299*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2299	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGACGTTCCAATTACAGAT	0.433000										HNSCC(5;0.00058)			82	54					1.15773e-35	5.03013e-35	0.000781405	1	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053298	46053298	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:46053298C>T	ENST00000536708.2	+	8	901	c.792C>T	c.(790-792)taC>taT	p.Y264Y	CDK5RAP3_ENST00000338399.4_Silent_p.Y239Y	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	239					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAACGGTGTACGAGTGGAGGA	0.587000													5	53					0	0	0.000442599	0	0
MBL2	4153	broad.mit.edu	37	10	54528241	54528241	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:54528241C>T	ENST00000373968.3	-	4	467	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	135	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						AACTTGTTCCCAACTTGTTTG	0.453000													18	103					0	0	0.00229938	0	0
MUC5B	727897	broad.mit.edu	37	11	1272638	1272638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:1272638G>A	ENST00000447027.1	+	31	14595	c.14537G>A	c.(14536-14538)gGg>gAg	p.G4846E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G4843E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4843	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCACCCCAGGGACCACCTGG	0.637000													52	84					0	0	0.000781405	0	0
NRXN1	9378	broad.mit.edu	37	2	50149201	50149201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:50149201G>A	ENST00000404971.1	-	24	5864	c.4525C>T	c.(4525-4527)Cga>Tga	p.R1509*	NRXN1_ENST00000405472.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.R457*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.R1439*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.R404*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.R1469*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.R1439*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1439					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1510*(1)|p.R1439*(1)|p.R404*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTAGTTTCGACTCTCGTCC	0.478000													37	60					0	0	0.000692331	0	0
DUPD1	338599	broad.mit.edu	37	10	76797686	76797686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:76797686T>G	ENST00000338487.5	-	3	570	c.571A>C	c.(571-573)Aag>Cag	p.K191Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	191	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGAGCTGCTTCAAAAAGCCC	0.642000													19	65					0	0	0.00121646	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131890487	131890487	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:131890487T>C	ENST00000403716.1	+	6	906	c.346T>C	c.(346-348)Tct>Cct	p.S116P	PLEKHB2_ENST00000303908.3_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.S116P|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.S68P|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.S116P	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	116						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GTATGTGGGCTCTGCAGTCAT	0.572000													31	85					0	0	0.00283554	0	0
RTTN	25914	broad.mit.edu	37	18	67687941	67687941	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:67687941C>T	ENST00000255674.6	-	45	6349	c.6063G>A	c.(6061-6063)atG>atA	p.M2021I	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2021							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTCCAGTGGCATCTGGGAAG	0.468000													19	115					0	0	0.00074312	0	0
BMP2	650	broad.mit.edu	37	20	6759194	6759194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:6759194A>G	ENST00000378827.4	+	3	1868	c.649A>G	c.(649-651)Act>Gct	p.T217A		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	217					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GATGCGGTGGACTGCACAGGG	0.522000													4	49					0	0	0.00024832	0	0
GRK5	2869	broad.mit.edu	37	10	121212266	121212266	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:121212266C>T	ENST00000392870.2	+	14	1817	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Silent_p.D391D	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	496	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACACAGACGACGACTTCTACT	0.597000													9	25					0	0	0.000442599	0	0
PDE3A	5139	broad.mit.edu	37	12	20782996	20782996	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:20782996A>T	ENST00000359062.3	+	6	1735	c.1695A>T	c.(1693-1695)ttA>ttT	p.L565F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	565					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACAGGGCCTTAACTTACACTC	0.453000													77	121					0	0	0.000781405	0	0
SOX9	6662	broad.mit.edu	37	17	70120341	70120341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:70120341C>T	ENST00000245479.2	+	3	1715	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	448					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACCAGAACTCCAGCTCCTAC	0.637000													21	151					0	0	0.00152264	0	0
PHLDB2	90102	broad.mit.edu	37	3	111686631	111686631	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr3:111686631T>A	ENST00000431670.2	+	15	3686	c.3275T>A	c.(3274-3276)aTa>aAa	p.I1092K	PHLDB2_ENST00000412622.1_Missense_Mutation_p.I1049K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.I1076K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.I1092K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.I583K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I1049K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1092						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGAAGTTAATAGAAAAGGAA	0.468000											OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0	0	0.001984	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273385	139273385	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr9:139273385G>A	ENST00000298532.2	-	21	3262	c.2894C>T	c.(2893-2895)aCt>aTt	p.T965I		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	965	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGAGCCAGAAGTGCCAGGTTT	0.667000													14	23					0	0	0.004007	0	0
PDZD8	118987	broad.mit.edu	37	10	119043244	119043244	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:119043244C>A	ENST00000334464.5	-	5	3239	c.3000G>T	c.(2998-3000)aaG>aaT	p.K1000N		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1000					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTCTCACTAACTTTATTCCTG	0.478000													88	167					2.93434e-44	1.21839e-43	0.003610	1	0
PTPN11	5781	broad.mit.edu	37	12	112940025	112940025	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:112940025T>C	ENST00000351677.2	+	14	1875	c.1677T>C	c.(1675-1677)ccT>ccC	p.P559P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	563					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATCAGAGCCCTCTCCCGCCTT	0.428000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				5	162					0	0	0.003080	0	0
ZNF724P	440519	broad.mit.edu	37	19	23414137	23414137	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr19:23414137T>A	ENST00000418100.1	-	3	274	c.157A>T	c.(157-159)Atc>Ttc	p.I53F	ZNF724P_ENST00000597037.1_Missense_Mutation_p.I53F																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AGACAGGTGATCAGGTCTGGC	0.408000													48	158					0	0	0.003610	0	0
ZNF331	55422	broad.mit.edu	37	19	54080198	54080198	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr19:54080198G>A	ENST00000253144.9	+	7	1717	c.384G>A	c.(382-384)gaG>gaA	p.E128E	ZNF331_ENST00000449416.1_Silent_p.E128E|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Silent_p.E128E|ZNF331_ENST00000511593.2_Silent_p.E128E|ZNF331_ENST00000511154.1_Silent_p.E128E|ZNF331_ENST00000411977.2_Silent_p.E128E|ZNF331_ENST00000513999.1_Silent_p.E128E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATCATAAGGAGAATTCCTTTG	0.418000			T	?	follicular thyroid adenoma								41	90					0	0	0.006230	0	0
PTBP2	58155	broad.mit.edu	37	1	97236288	97236288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:97236288G>A	ENST00000236228.6	+	5	395	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PTBP2_ENST00000370198.1_Missense_Mutation_p.E105K|PTBP2_ENST00000394184.3_Missense_Mutation_p.E116K|PTBP2_ENST00000541987.1_Missense_Mutation_p.E74K|PTBP2_ENST00000426398.2_Missense_Mutation_p.E105K|PTBP2_ENST00000370197.1_Missense_Mutation_p.E105K|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	105	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGCAACCGAGGAAGCAGCTAT	0.313000													21	55					0	0	0.002299	0	0
GTF3C1	2975	broad.mit.edu	37	16	27544670	27544670	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr16:27544670A>T	ENST00000356183.4	-	5	806	c.791T>A	c.(790-792)gTc>gAc	p.V264D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522000													21	54					0	0	0.003330	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197817	1197817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:1197817G>A	ENST00000401903.1	-	2	291	c.32C>T	c.(31-33)tCa>tTa	p.S11L	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.S11L			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	11						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		AGTCTTTTCTGAACAATGCTT	0.398000													8	398					0	0	0.003080	0	0
DTX1	1840	broad.mit.edu	37	12	113496166	113496166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:113496166C>T	ENST00000257600.3	+	1	672	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	57	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAGGACGCTCGCGGTTCCGT	0.642000													26	101					0	0	0.006320	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279983	47279983	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:47279983C>T	ENST00000271153.4	+	7	911	c.875C>T	c.(874-876)gCc>gTc	p.A292V	CYP4B1_ENST00000452782.2_Missense_Mutation_p.A130V|CYP4B1_ENST00000371923.4_Missense_Mutation_p.A293V|CYP4B1_ENST00000371919.4_Missense_Mutation_p.A278V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	292					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTCCTGGGTGCCCGGGTGAGT	0.582000													12	16					0	0	0.001368	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080272	70080272	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr4:70080272C>G	ENST00000446444.1	-	1	177	c.169G>C	c.(169-171)Gca>Cca	p.A57P	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	57					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTGAAGATGCCAGTACAGTC	0.393000													17	214					0	0	0.007413	0	0
TBCEL	219899	broad.mit.edu	37	11	120925792	120925792	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:120925792T>C	ENST00000422003.2	+	5	675	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TBCEL_ENST00000529397.1_Missense_Mutation_p.Y163H	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	163						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTTAATGACTATGAAACAGT	0.348000													10	46					0	0	0.008291	0	0
ANO4	121601	broad.mit.edu	37	12	101295618	101295618	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:101295618G>A	ENST00000392979.3	+	2	416	c.55_splice	c.e2+1	p.V19_splice	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Splice_Site_p.E19_splice|ANO4_ENST00000538618.1_Splice_Site_p.E185_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	54						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTTCCACCCAGGTGATGCATG	0.443000										HNSCC(74;0.22)			29	69					0	0	0.007291	0	0
TRIM51	84767	broad.mit.edu	37	11	55653067	55653067	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:55653067T>G	ENST00000449290.2	+	2	255	c.163T>G	c.(163-165)Tgc>Ggc	p.C55G		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	55						intracellular	zinc ion binding										GTGCTCTGAATGCAAGAAGAC	0.507000													7	38					0	0	0.001984	0	0
P2RX1	5023	broad.mit.edu	37	17	3819557	3819557	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:3819557C>T	ENST00000225538.3	-	0	237					NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1						platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCCTGCACGGCCTCTGCT	0.677000													17	40					0	0	0.004007	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127348	20127348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr22:20127348G>A	ENST00000334554.7	+	4	631	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.V164M|ZDHHC8_ENST00000320602.7_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	164						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTGGGCGTCGTGGCCTTCGG	0.602000													8	60					0	0	0.004482	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839869	27839869	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chrX:27839869T>A	ENST00000356790.2	+	3	691	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	149	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGAGCCAGTTCCCTGTAATC	0.438000													23	30					0	0	0.002299	0	0
PIK3IP1	113791	broad.mit.edu	37	22	31688261	31688261	+	Splice_Site	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr22:31688261C>T	ENST00000215912.5	-	1	253	c.70_splice	c.e1+1	p.G24_splice	PIK3IP1_ENST00000487265.2_Splice_Site_p.E24_splice|PIK3IP1_ENST00000441972.1_Splice_Site_p.G24_splice|PIK3IP1_ENST00000402249.3_Splice_Site_p.G24_splice	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	24	Kringle.					integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						GTAATCTCACCTCCAGATCCA	0.502000											OREG0026478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	56					0	0	0.002299	0	0
MUC5B	727897	broad.mit.edu	37	11	1272638	1272638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:1272638G>A	ENST00000447027.1	+	31	14595	c.14537G>A	c.(14536-14538)gGg>gAg	p.G4846E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G4843E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4843	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCACCCCAGGGACCACCTGG	0.637000													52	84					0	0	0.003610	0	0
VPS13A	23230	broad.mit.edu	37	9	79955422	79955422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr9:79955422G>A	ENST00000360280.3	+	50	7242	c.6982G>A	c.(6982-6984)Gct>Act	p.A2328T	VPS13A_ENST00000376634.4_Missense_Mutation_p.A2328T|VPS13A_ENST00000376636.3_Missense_Mutation_p.A2289T|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2328T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2328					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATCAGTGGCTGAAGAAGG	0.338000													17	56					0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82585666	82585666	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:82585666A>G	ENST00000423517.2	-	5	4940	c.4603T>C	c.(4603-4605)Tca>Cca	p.S1535P	PCLO_ENST00000333891.8_Missense_Mutation_p.S1535P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1466					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						CTGCTTGATGAGCCAACACTA	0.403000													6	83					0	0	0.001168	0	0
LRRC6	23639	broad.mit.edu	37	8	133596002	133596002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr8:133596002G>A	ENST00000519595.1	-	11	1263	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	LRRC6_ENST00000518642.1_Nonsense_Mutation_p.Q386*|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.Q389*			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	389	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATGCTCGCTGACCACCTGTG	0.378000													33	42					0	0	0.002096	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674022	70674022	+	Silent	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr8:70674022A>G	ENST00000260126.3	-	3	1702	c.996T>C	c.(994-996)aaT>aaC	p.N332N	SLCO5A1_ENST00000524945.1_Silent_p.N332N|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.N332N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	332						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGTGAACAGGATTTCTGGGAT	0.378000													4	55					0	0	0.000602	0	0
AOC1	26	broad.mit.edu	37	7	150556008	150556008	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:150556008C>T	ENST00000493429.1	+	5	2312	c.1728C>T	c.(1726-1728)taC>taT	p.Y576Y	AOC1_ENST00000416793.2_Silent_p.Y576Y|AOC1_ENST00000360937.4_Silent_p.Y576Y|AOC1_ENST00000467291.1_Silent_p.Y576Y|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		TGCCTAAGTACCTGCTCTTTA	0.652000													5	36					0	0	0.003080	0	0
FBXL13	222235	broad.mit.edu	37	7	102453908	102453908	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:102453908A>G	ENST00000393772.2	-	19	2431	c.2005T>C	c.(2005-2007)Ttt>Ctt	p.F669L	FBXL13_ENST00000456695.1_Missense_Mutation_p.F415L|FBXL13_ENST00000436908.1_Missense_Mutation_p.F697L|FBXL13_ENST00000455112.2_Missense_Mutation_p.F652L|FBXL13_ENST00000379308.3_Missense_Mutation_p.F652L|FBXL13_ENST00000379305.3_Missense_Mutation_p.F669L|FBXL13_ENST00000379306.3_Missense_Mutation_p.F415L|FBXL13_ENST00000313221.4_Missense_Mutation_p.F697L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	697										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATAGCCAAACCAACGTGGA	0.408000													12	117					0	0	0.002450	0	0
OBSCN	84033	broad.mit.edu	37	1	228548417	228548417	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:228548417C>T	ENST00000284548.11	+	81	19898	c.19824C>T	c.(19822-19824)atC>atT	p.I6608I	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Silent_p.I3727I|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTTCACATCTGCCCAGACA	0.632000													17	29					0	0	0.004007	0	0
PCSK7	9159	broad.mit.edu	37	11	117095455	117095455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:117095455C>T	ENST00000320934.3	-	7	1507	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	293	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCTTCCCATCGTCATCTGGT	0.577000			T	IGH@	MLCLS								50	191					0	0	0.003610	0	0
MED12	9968	broad.mit.edu	37	X	70350030	70350030	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chrX:70350030A>G	ENST00000333646.6	+	28	4212	c.4013A>G	c.(4012-4014)aAc>aGc	p.N1338S	MED12_ENST00000374080.3_Missense_Mutation_p.N1338S|MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.N1338S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1338					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGGGGAAAACCCCCAGCGG	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						2	11					0	0	0.004672	0	0
OR6K2	81448	broad.mit.edu	37	1	158669807	158669807	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:158669807C>T	ENST00000359610.2	-	1	679	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGATGAGCATCACAGCTGTAA	0.498000													24	99					0	0	0.003330	0	0
PTPRC	5788	broad.mit.edu	37	1	198665840	198665840	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:198665840G>A	ENST00000367376.2	+	4	265		c.e4-1		PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000391970.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAATTAACAGGATTGACTAC	0.418000													32	83					0	0	0.002096	0	0
PHTF1	10745	broad.mit.edu	37	1	114267424	114267424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:114267424C>T	ENST00000369604.1	-	7	1063	c.580G>A	c.(580-582)Gta>Ata	p.V194I	PHTF1_ENST00000369600.1_Missense_Mutation_p.V141I|PHTF1_ENST00000357783.2_Missense_Mutation_p.V194I|PHTF1_ENST00000393357.2_Missense_Mutation_p.V194I|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.V141I|PHTF1_ENST00000447664.2_Missense_Mutation_p.V194I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATGGGTACAGATTCCAAA	0.353000													25	42					0	0	0.003330	0	0
GFRA1	2674	broad.mit.edu	37	10	118030435	118030435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:118030435G>A	ENST00000439649.3	-	3	600	c.233C>T	c.(232-234)gCc>gTc	p.A78V	GFRA1_ENST00000369236.1_Missense_Mutation_p.A78V|GFRA1_ENST00000355422.6_Missense_Mutation_p.A78V	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	78					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGCTTCAGGGCCTCCATGGC	0.602000													13	34					0	0	0.001855	0	0
CHD3	1107	broad.mit.edu	37	17	7802768	7802768	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:7802768G>A	ENST00000380358.4	+	15	2629	c.2628G>A	c.(2626-2628)acG>acA	p.T876T	CHD3_ENST00000358181.4_Silent_p.T817T|CHD3_ENST00000330494.7_Silent_p.T817T	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	817	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGACATACACGGGTGACAAGG	0.498000													43	78					0	0	0.002222	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46096159	46096159	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:46096159C>A	ENST00000355105.3	-	11	2524	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E388D	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTTACCTGTGCTCTGCTTCTA	0.488000													20	69					7.41877e-09	2.87227e-08	0.001882	1	0
KIF5C	3800	broad.mit.edu	37	2	149806405	149806405	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:149806405A>G	ENST00000435030.1	+	9	1135	c.767A>G	c.(766-768)aAt>aGt	p.N256S	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.N24S|KIF5C_ENST00000414838.2_Missense_Mutation_p.N161S			O60282	KIF5C_HUMAN	kinesin family member 5C	256	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAATATCAATAAGTCTTTG	0.453000													9	44					0	0	0.006214	0	0
LAMA1	284217	broad.mit.edu	37	18	6956637	6956637	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr18:6956637G>A	ENST00000389658.3	-	56	8185	c.8092C>T	c.(8092-8094)Cca>Tca	p.P2698S	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2698					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCCTACTGGAAAAGCCCGG	0.572000													13	77					0	0	0.001855	0	0
TUBD1	51174	broad.mit.edu	37	17	57951968	57951968	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:57951968G>A	ENST00000325752.3	-	6	1143	c.866C>T	c.(865-867)aCa>aTa	p.T289I	TUBD1_ENST00000539018.1_Missense_Mutation_p.T73I|TUBD1_ENST00000592426.1_Missense_Mutation_p.T289I|TUBD1_ENST00000394239.3_Missense_Mutation_p.T289I|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	289					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CCAAGTAAATGTGGTGTATGC	0.423000													31	218					0	0	0.007291	0	0
SYNE2	23224	broad.mit.edu	37	14	64522880	64522880	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr14:64522880C>T	ENST00000358025.3	+	49	10193	c.9963C>T	c.(9961-9963)tcC>tcT	p.S3321S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.S3321S|SYNE2_ENST00000554584.1_Silent_p.S3354S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3321					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATGATATCCAGCCCCGAAG	0.433000													8	31					0	0	0.003080	0	0
SLC52A3	113278	broad.mit.edu	37	20	744241	744241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr20:744241G>A	ENST00000381944.3	-	3	1215	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.S325F			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	325					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GGACAGGCAGGAGTAGGTCTG	0.627000													22	118					0	0	0.003954	0	0
VPS4B	9525	broad.mit.edu	37	18	61074674	61074674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr18:61074674G>A	ENST00000238497.5	-	4	558	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	VPS4B_ENST00000591519.1_Nonsense_Mutation_p.Q119*	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	119					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CCTTGAAGTTGATTCTGTAGT	0.289000													5	14					0	0	0.000602	0	0
MAPK13	5603	broad.mit.edu	37	6	36106785	36106785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr6:36106785T>C	ENST00000211287.4	+	11	1233	c.971T>C	c.(970-972)tTt>tCt	p.F324S	MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.F314S|MAPK13_ENST00000373766.5_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	324					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CAGCAGCCGTTTGATGATTCC	0.602000													15	39					0	0	0.003163	0	0
SELO	83642	broad.mit.edu	37	22	50654274	50654274	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr22:50654274T>C	ENST00000380903.2	+	6	1538	c.1480T>C	c.(1480-1482)Ttc>Ctc	p.F494L	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					GAGGCTGGCCTTCCGGCCCCA	0.582000													19	58					0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13817734	13817734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr5:13817734C>T	ENST00000265104.4	-	42	7015	c.6911G>A	c.(6910-6912)cGg>cAg	p.R2304Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2304	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACGTCCAGCCGACCAAACAT	0.403000									Kartagener syndrome				27	48					0	0	0.007291	0	0
UBR1	197131	broad.mit.edu	37	15	43360173	43360173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr15:43360173C>T	ENST00000290650.4	-	6	799	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	UBR1_ENST00000382177.2_Missense_Mutation_p.V241I	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	241					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTGTATATGACGTGGTCATAT	0.388000													11	83					0	0	0.008291	0	0
LRRC41	10489	broad.mit.edu	37	1	46751227	46751227	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:46751227T>C	ENST00000343304.6	-	4	1587	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	434										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACAAGCCACTTCCCCAATCT	0.547000													34	57					0	0	0.002096	0	0
AGPS	8540	broad.mit.edu	37	2	178388494	178388494	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:178388494A>G	ENST00000264167.4	+	19	1962	c.1816A>G	c.(1816-1818)Atc>Gtc	p.I606V	AGPS_ENST00000409888.1_Missense_Mutation_p.I137V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	606					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TAGAGAAGAAATCCTTGCTAA	0.358000													18	58					0	0	0.001882	0	0
NDUFS1	4719	broad.mit.edu	37	2	206988923	206988923	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:206988923G>A	ENST00000233190.5	-	19	2436	c.2170C>T	c.(2170-2172)Cca>Tca	p.P724S	NDUFS1_ENST00000455934.2_Missense_Mutation_p.P738S|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P724S|NDUFS1_ENST00000440274.1_Missense_Mutation_p.P688S|NDUFS1_ENST00000432169.1_Missense_Mutation_p.P613S|NDUFS1_ENST00000423725.1_Missense_Mutation_p.P667S|NDUFS1_ENST00000457011.1_Missense_Mutation_p.P608S	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	724					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CATATGGATGGTTCCTCTACT	0.418000													15	46					0	0	0.004990	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839984	27839984	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr6:27839984T>A	ENST00000328488.2	-	1	115	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGCTTCTTGACGCCACC	0.672000													16	68					0	0	0.004007	0	0
IDO1	3620	broad.mit.edu	37	8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					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)	GGAGATGTCCGTAAGGTTTGG	0.393000													16	80					0	0	0.004990	0	0
ENOSF1	55556	broad.mit.edu	37	18	683302	683302	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr18:683302A>C	ENST00000319815.6	-	3	1394	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G	ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000580982.1_Missense_Mutation_p.W198G|ENOSF1_ENST00000251101.7_Missense_Mutation_p.W274G|ENOSF1_ENST00000340116.7_Missense_Mutation_p.W295G|ENOSF1_ENST00000383578.3_Missense_Mutation_p.W192G			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	274					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TCCTCAATCCACAATGGCTTG	0.532000													35	73					0	0	0.004289	0	0
NRGN	4900	broad.mit.edu	37	11	124615418	124615418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:124615418C>T	ENST00000526916.2	+	2	175	c.35C>T	c.(34-36)cCg>cTg	p.P12L	NRGN_ENST00000284292.5_Missense_Mutation_p.P12L|NRGN_ENST00000412681.1_Missense_Mutation_p.P12L|RP11-677M14.2_ENST00000531241.1_RNA			Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	12					nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCTCCAAGCCGGACGACGAC	0.647000													9	56					0	0	0.006214	0	0
SH3D21	79729	broad.mit.edu	37	1	36785374	36785374	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:36785374C>T	ENST00000453908.2	+	14	1138	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	SH3D21_ENST00000505871.1_Silent_p.N259N|SH3D21_ENST00000312808.4_Silent_p.N16N|SH3D21_ENST00000426732.2_Silent_p.N254N	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	254										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CTCCAGAGAACGCCCCCAGCT	0.622000													12	23					0	0	0.000978	0	0
KRT39	390792	broad.mit.edu	37	17	39118751	39118751	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:39118751G>A	ENST00000355612.2	-	4	808	c.773C>T	c.(772-774)tCt>tTt	p.S258F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	258	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TAGGTCAGCAGAAGGGGCAGC	0.448000													129	256					0	0	0.003610	0	0
MYH10	4628	broad.mit.edu	37	17	8398540	8398540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:8398540G>A	ENST00000360416.3	-	31	4109	c.3971C>T	c.(3970-3972)tCc>tTc	p.S1324F	MYH10_ENST00000396239.1_Missense_Mutation_p.S1314F|MYH10_ENST00000379980.4_Missense_Mutation_p.S1309F|MYH10_ENST00000269243.4_Missense_Mutation_p.S1293F	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1293					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAGAAGGGTGGAGACATTATC	0.413000													11	22					0	0	0.001368	0	0
GIPC1	10755	broad.mit.edu	37	19	14593541	14593541	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr19:14593541T>C	ENST00000393033.4	-	4	517	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000586027.1_Missense_Mutation_p.Y83C|GIPC1_ENST00000345425.2_Missense_Mutation_p.Y83C	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	83					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						GATCTTGCCATACAGCTCCTT	0.682000													8	26					0	0	0.003080	0	0
PTPN11	5781	broad.mit.edu	37	12	112940027	112940027	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:112940027T>C	ENST00000351677.2	+	14	1877	c.1679T>C	c.(1678-1680)cTc>cCc	p.L560P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	564					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAGCCCTCTCCCGCCTTGT	0.428000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				5	164					0	0	0.001984	0	0
NR2E1	7101	broad.mit.edu	37	6	108502785	108502785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr6:108502785C>T	ENST00000368986.4	+	8	1633	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	NR2E1_ENST00000368983.3_Missense_Mutation_p.R346W	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	309	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GAGAAGTTTCCGGAATGCTGC	0.483000													16	60					0	0	0.007413	0	0
C10orf12	26148	broad.mit.edu	37	10	98742212	98742212	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:98742212C>T	ENST00000286067.2	+	1	1172	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	355										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGTGTACCCCAGGACTGTC	0.522000													37	80					0	0	0.004878	0	0
AK5	26289	broad.mit.edu	37	1	77806144	77806144	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:77806144A>G	ENST00000344720.5	+	6	1730	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	AK5_ENST00000354567.2_Missense_Mutation_p.Q261R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	261					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCAGAACAGCAGGGCCGACCA	0.468000													24	91					0	0	0.003330	0	0
CLCF1	23529	broad.mit.edu	37	11	67134940	67134940	+	Silent	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:67134940A>T	ENST00000312438.7	-	2	371	c.174T>A	c.(172-174)gcT>gcA	p.A58A	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_Silent_p.A48A|CLCF1_ENST00000533438.1_Silent_p.A48A	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	58					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CATAGGTCCCAGCCAAGCTGC	0.577000													38	68					0	0	0.006230	0	0
TJP1	7082	broad.mit.edu	37	15	30008972	30008972	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr15:30008972C>T	ENST00000346128.6	-	23	4519	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	TJP1_ENST00000545208.2_Missense_Mutation_p.E1269K|TJP1_ENST00000356107.6_Missense_Mutation_p.E1349K|TJP1_ENST00000400011.2_Missense_Mutation_p.E1273K	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1349					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCATCTTCTTCAGGGTCATAA	0.428000													9	46					0	0	0.006214	0	0
MGP	4256	broad.mit.edu	37	12	15035958	15035958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:15035958C>T	ENST00000539261.1	-	3	252	c.118G>A	c.(118-120)Gca>Aca	p.A40T	MGP_ENST00000228938.5_Missense_Mutation_p.A65T|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	40					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						AAGGTATTTGCATTTCTCCTG	0.383000													11	32					0	0	0.000978	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940829	52940829	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:52940829G>C	ENST00000371544.3	-	13	2664	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S801C|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	801					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						TTTGCTGGTAGAAAGAGATGA	0.358000													23	133					0	0	0.002299	0	0
C22orf42	150297	broad.mit.edu	37	22	32545757	32545757	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr22:32545757C>T	ENST00000382097.3	-	8	737	c.665G>A	c.(664-666)aGa>aAa	p.R222K	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	222										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATCTTCATATCTCTCCTTTGC	0.338000													9	48					0	0	0.006214	0	0
PRPF4B	8899	broad.mit.edu	37	6	4052307	4052307	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr6:4052307G>A	ENST00000337659.6	+	10	2391	c.2291G>A	c.(2290-2292)tGt>tAt	p.C764Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.C750Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	764	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGCATCTTTGTCTGGTATTC	0.353000													20	38					0	0	0.001882	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303096	117303096	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:117303096G>A	ENST00000321322.6	-	30	5332	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	DSCAML1_ENST00000527706.1_Silent_p.I1507I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1717					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGACATGTCGATGAGGGGTC	0.572000													6	42					0	0	0.001168	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964789	88964789	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:88964789C>T	ENST00000333190.4	+	4	3102	c.2493C>T	c.(2491-2493)aaC>aaT	p.N831N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	831						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGATTCTAACTCACAGATTT	0.373000										HNSCC(36;0.09)			14	43					0	0	0.002450	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098107	220098107	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:220098107C>T	ENST00000323348.5	+	7	945	c.771C>T	c.(769-771)caC>caT	p.H257H	ANKZF1_ENST00000410034.3_Silent_p.H257H|ANKZF1_ENST00000409849.1_Silent_p.H47H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	257						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCATCACACTCTGCTGGAG	0.522000													17	52					0	0	0.004990	0	0
MASP1	5648	broad.mit.edu	37	3	186953699	186953699	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr3:186953699C>T	ENST00000296280.6	-	11	2185	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E541K	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	636	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGCCGCCCTCGTAGTAGCCA	0.577000													15	66					0	0	0.002450	0	0
RTTN	25914	broad.mit.edu	37	18	67687941	67687941	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr18:67687941C>T	ENST00000255674.6	-	45	6349	c.6063G>A	c.(6061-6063)atG>atA	p.M2021I	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2021							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTCCAGTGGCATCTGGGAAG	0.468000													19	115					0	0	0.006122	0	0
OR1L8	138881	broad.mit.edu	37	9	125330736	125330736	+	Silent	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr9:125330736G>T	ENST00000304865.2	-	1	102	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGACACTGCTGGTGTGGTTGA	0.448000													7	54					2.74318e-10	1.0766e-09	0.006214	1	0
GAS2L2	246176	broad.mit.edu	37	17	34077293	34077293	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:34077293C>A	ENST00000254466.6	-	2	457	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.V144L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	144	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGTTCTTCACGTTCTTGCGC	0.642000													34	235					6.29468e-14	2.54004e-13	0.004878	1	0
HOXA11	3207	broad.mit.edu	37	7	27224479	27224479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:27224479C>A	ENST00000006015.3	-	1	356	c.285G>T	c.(283-285)caG>caT	p.Q95H	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	95					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CGCTGGGCGCCTGCAGGCAGT	0.657000			T	NUP98	CML								15	54					6.72482e-11	2.65746e-10	0.003163	1	0
LCT	3938	broad.mit.edu	37	2	136570169	136570169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:136570169G>A	ENST00000264162.2	-	7	2075	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	689	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGATGAGGCGGGAGGTGTAA	0.557000													20	55					0	0	0.001882	0	0
LGR4	55366	broad.mit.edu	37	11	27397864	27397864	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:27397864A>G	ENST00000379214.4	-	13	1606	c.1163T>C	c.(1162-1164)cTg>cCg	p.L388P	LGR4_ENST00000389858.4_Missense_Mutation_p.L364P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	388						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAGAGATATCAGGCCTTGAAA	0.294000													3	123					0	0	0.000248	0	0
NFX1	4799	broad.mit.edu	37	9	33294473	33294473	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr9:33294473T>A	ENST00000379540.3	+	2	143	c.81T>A	c.(79-81)aaT>aaA	p.N27K	NFX1_ENST00000318524.6_Missense_Mutation_p.N27K|NFX1_ENST00000379521.4_Missense_Mutation_p.N27K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	27					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGAAAAAAAATTCTGGTCTAA	0.383000													84	104					0	0	0.003610	0	0
NHLRC4	283948	broad.mit.edu	37	16	618123	618123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr16:618123G>A	ENST00000424439.2	+	2	733	c.76G>A	c.(76-78)Gat>Aat	p.D26N	PIGQ_ENST00000409527.2_Intron|NHLRC4_ENST00000540585.1_Missense_Mutation_p.D26N			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	26																	GGAGTTTGGGGATGTGAGGCT	0.687000													6	14					0	0	0.001984	0	0
SP5	389058	broad.mit.edu	37	2	171573597	171573597	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:171573597A>C	ENST00000375281.3	+	2	1042	c.880A>C	c.(880-882)Aag>Cag	p.K294Q		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GGGGAAGAAGAAGCAGCACGT	0.741000													3	9					0	0	0.000248	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr15:102304883C>G	ENST00000561463.1	+	0	12929																											CGCGTGGGAACGAGAAGACAC	0.562000													3	26					0	0	0.000602	0	0
RXFP1	59350	broad.mit.edu	37	4	159573014	159573014	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr4:159573014G>A	ENST00000307765.5	+	18	2332	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	RXFP1_ENST00000470033.1_Missense_Mutation_p.R661Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.R646Q|RXFP1_ENST00000460056.2_Missense_Mutation_p.R613Q|RXFP1_ENST00000448688.2_Missense_Mutation_p.R589Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	694						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGATTCATCGGTTTTGGTAT	0.393000													21	54					0	0	0.001523	0	0
PDE10A	10846	broad.mit.edu	37	6	165806230	165806230	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr6:165806230G>A	ENST00000366882.1	-	17	1685	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	PDE10A_ENST00000354448.4_Missense_Mutation_p.R511W|PDE10A_ENST00000539869.2_Missense_Mutation_p.R521W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	511					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAAGGAACCCGCCGATAGTTC	0.428000													6	41					0	0	0.001168	0	0
MCCC2	64087	broad.mit.edu	37	5	70927976	70927976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr5:70927976C>T	ENST00000340941.6	+	8	896	c.767C>T	c.(766-768)tCt>tTt	p.S256F	MCCC2_ENST00000323375.8_Missense_Mutation_p.S218F|MCCC2_ENST00000509358.2_Missense_Mutation_p.S256F|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	256	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGAAGTATCTGCTGAGGAT	0.398000													18	70					0	0	0.007413	0	0
CPXM2	119587	broad.mit.edu	37	10	125530495	125530495	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:125530495T>C	ENST00000241305.3	-	8	1193	c.1039A>G	c.(1039-1041)Agc>Ggc	p.S347G	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCCTGGTGGCTTTTTCCAATG	0.458000													4	337					0	0	0.000248	0	0
CSPG5	10675	broad.mit.edu	37	3	47618893	47618893	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr3:47618893A>T	ENST00000383738.2	-	2	2721	c.623T>A	c.(622-624)aTt>aAt	p.I208N	CSPG5_ENST00000456150.1_Missense_Mutation_p.I70N|CSPG5_ENST00000264723.4_Missense_Mutation_p.I208N	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	208					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCGATGTCAATGATATCTGA	0.587000													13	24					0	0	0.001368	0	0
MST1R	4486	broad.mit.edu	37	3	49933239	49933239	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr3:49933239C>T	ENST00000296474.3	-	12	2898	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	MST1R_ENST00000344206.4_Silent_p.T908T	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	957					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.T957T(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TACCAAGGAGCGTGCTCTGTG	0.607000													6	46					0	0	0.001168	0	0
MYO10	4651	broad.mit.edu	37	5	16682073	16682073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr5:16682073C>T	ENST00000513610.1	-	31	4550	c.4096G>A	c.(4096-4098)Gcc>Acc	p.A1366T	MYO10_ENST00000505695.1_Missense_Mutation_p.A705T|MYO10_ENST00000427430.2_Missense_Mutation_p.A723T|MYO10_ENST00000515803.1_Missense_Mutation_p.A705T|MYO10_ENST00000274203.9_Missense_Mutation_p.A723T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1366					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCGTGTCGGCGTTGCAGTGC	0.577000													22	110					0	0	0.003330	0	0
ODF2	4957	broad.mit.edu	37	9	131247076	131247076	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr9:131247076A>T	ENST00000303890.5	+	14	1714	c.1129A>T	c.(1129-1131)Agc>Tgc	p.S377C	ODF2_ENST00000372796.4_Missense_Mutation_p.S401C|ODF2_ENST00000351030.3_Missense_Mutation_p.S396C|ODF2_ENST00000546203.1_Missense_Mutation_p.S382C|ODF2_ENST00000393533.2_Missense_Mutation_p.S401C|ODF2_ENST00000372791.3_Missense_Mutation_p.S382C|ODF2_ENST00000448249.3_Missense_Mutation_p.S320C|ODF2_ENST00000372814.3_Missense_Mutation_p.S445C|ODF2_ENST00000444119.2_Missense_Mutation_p.S377C|ODF2_ENST00000434106.2_Missense_Mutation_p.S401C|ODF2_ENST00000372807.5_Missense_Mutation_p.S396C	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	401					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGACAAAGAGAGCTTGAAGAA	0.577000													5	16					0	0	0.000602	0	0
MMP20	9313	broad.mit.edu	37	11	102480739	102480739	+	Silent	SNP	G	G	A	rs148659857	byFrequency	TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:102480739G>A	ENST00000260228.2	-	4	558	c.546C>T	c.(544-546)ttC>ttT	p.F182F	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	182					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAGGCCCATCGAATGGATAGG	0.498000													8	40					0	0	0.003080	0	0
RBPJ	3516	broad.mit.edu	37	4	26407892	26407892	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr4:26407892G>A	ENST00000342320.4	+	3	328	c.152_splice	c.e3+1	p.R51_splice	RBPJ_ENST00000345843.3_Splice_Site_p.R50_splice|RBPJ_ENST00000342295.1_Splice_Site_p.R65_splice|RBPJ_ENST00000504907.1_Splice_Site_p.R51_splice|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000355476.3_Splice_Site_p.R51_splice|RBPJ_ENST00000507561.1_Splice_Site_p.R30_splice|RBPJ_ENST00000361572.6_Splice_Site_p.R65_splice|RBPJ_ENST00000348160.4_Splice_Site_p.R52_splice			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	65					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATGAAAAAAGGTAAGATTAT	0.333000													56	37					0	0	0.003610	0	0
ZNF12	7559	broad.mit.edu	37	7	6731206	6731206	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:6731206T>C	ENST00000405858.1	-	5	1908	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y418C|ZNF12_ENST00000404360.1_Missense_Mutation_p.Y382C	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	456					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATGAGTTCTATAATGTACAGT	0.433000													17	49					0	0	0.006122	0	0
TACC3	10460	broad.mit.edu	37	4	1746264	1746264	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr4:1746264A>G	ENST00000313288.4	+	14	2349	c.2243A>G	c.(2242-2244)aAg>aGg	p.K748R		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	748						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCACTGAAGAAGTGCGTGGAG	0.612000													41	21					0	0	0.002222	0	0
ALPPL2	251	broad.mit.edu	37	2	233272011	233272011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:233272011C>T	ENST00000295453.3	+	3	252	c.200C>T	c.(199-201)aCg>aTg	p.T67M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	67					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGGGTGTCTACGGTGACAGCT	0.627000													22	59					0	0	0.001523	0	0
RNF103	7844	broad.mit.edu	37	2	86831161	86831161	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:86831161A>C	ENST00000237455.4	-	4	2831	c.1863T>G	c.(1861-1863)tgT>tgG	p.C621W	AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	621					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGCAAACAACACATTCAGTAC	0.423000													22	166					0	0	0.002299	0	0
DPP6	1804	broad.mit.edu	37	7	154172049	154172049	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:154172049G>T	ENST00000404039.1	+	3	779	c.192G>T	c.(190-192)aaG>aaT	p.K64N	DPP6_ENST00000427557.1_Missense_Mutation_p.K66N|DPP6_ENST00000406326.1_Missense_Mutation_p.K128N|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.K128N|DPP6_ENST00000332007.3_Missense_Mutation_p.K66N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	128					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGTCTCAAAAGAAGAAGGTCA	0.378000													17	48					3.99206e-14	1.6223e-13	0.007413	1	0
XKRX	402415	broad.mit.edu	37	X	100183281	100183281	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chrX:100183281A>G	ENST00000328526.5	-	1	617	c.52T>C	c.(52-54)Tat>Cat	p.Y18H	XKRX_ENST00000372956.2_Missense_Mutation_p.Y5H|XKRX_ENST00000468904.1_Missense_Mutation_p.Y5H	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	5						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGAATTTCATAAACTCTGTCC	0.488000													72	65					0	0	0.003610	0	0
STAT5B	6777	broad.mit.edu	37	17	40359689	40359689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:40359689G>T	ENST00000293328.3	-	16	2132	c.1964C>A	c.(1963-1965)tCc>tAc	p.S655Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	655	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTCGGCTAGGGACCGAATGGA	0.418000													13	46					7.03913e-09	2.74382e-08	0.001368	1	0
MTHFR	4524	broad.mit.edu	37	1	11854027	11854027	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:11854027G>A	ENST00000376592.1	-	8	1595	c.1467C>T	c.(1465-1467)aaC>aaT	p.N489N	MTHFR_ENST00000376583.3_Silent_p.N530N|MTHFR_ENST00000376585.1_Silent_p.N530N|MTHFR_ENST00000376590.3_Silent_p.N489N			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	489					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACGGCTTCCCGTTGATGTTGG	0.657000													35	73					0	0	0.002445	0	0
SMG1	23049	broad.mit.edu	37	16	18828771	18828771	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr16:18828771T>C	ENST00000446231.2	-	57	10328	c.9916A>G	c.(9916-9918)Atc>Gtc	p.I3306V	SMG1_ENST00000389467.3_Missense_Mutation_p.I3307V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3306					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAATGAATGATATTGCTGCAG	0.413000													2	8					0	0	0.004672	0	0
WARS2	10352	broad.mit.edu	37	1	119683180	119683180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:119683180G>A	ENST00000369426.5	-	1	91	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000235521.4_Nonsense_Mutation_p.Q30*|RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000497761.1_5'UTR			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	30					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTGGTTACCTGGAGAGCGGGA	0.597000													6	31					0	0	0.001168	0	0
NUP107	57122	broad.mit.edu	37	12	69083344	69083344	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:69083344T>C	ENST00000539906.1	+	3	261	c.17T>C	c.(16-18)aTa>aCa	p.I6T	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000229179.4_Silent_p.N44N			P57740	NU107_HUMAN	nucleoporin 107kDa	0					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTTTGGTAATACTACACCAA	0.328000													16	48					0	0	0.001882	0	0
TP53	7157	broad.mit.edu	37	17	7579378	7579378	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:7579378G>C	ENST00000420246.2	-	4	441	c.309C>G	c.(307-309)taC>taG	p.Y103*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1 (By similarity).|Interaction with WWOX.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCCCTGGTAGGTTTTCT	0.637000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	46					0	0	0.006320	0	0
SNTB1	6641	broad.mit.edu	37	8	121706116	121706116	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr8:121706116T>C	ENST00000395601.3	-	3	1018	c.604A>G	c.(604-606)Aag>Gag	p.K202E	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.K202E	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	202	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCCTTTCTTCACATAGGGC	0.517000													21	86					0	0	0.004656	0	0
LAMC1	3915	broad.mit.edu	37	1	183106849	183106849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:183106849G>A	ENST00000258341.4	+	26	4617	c.4360G>A	c.(4360-4362)Gtt>Att	p.V1454I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1454	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGCAGAAGTTACAGATCT	0.383000													8	39					0	0	0.003080	0	0
METAP1D	254042	broad.mit.edu	37	2	172942597	172942597	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:172942597T>C	ENST00000315796.4	+	7	1164	c.777T>C	c.(775-777)caT>caC	p.H259H	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	259					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CTTACTTTCATGGACATCCAG	0.383000													22	40					0	0	0.002780	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46096158	46096158	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr1:46096158G>A	ENST00000355105.3	-	11	2525	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.H389Y	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACTTACCTGTGCTCTGCTTCT	0.488000													18	69					0	0	0.008871	0	0
PLXNA1	5361	broad.mit.edu	37	3	126752808	126752808	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr3:126752808G>A	ENST00000251772.4	+	31	5639	c.5570G>A	c.(5569-5571)cGg>cAg	p.R1857Q	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1880Q|PLXNA1_ENST00000505278.1_3'UTR			Q9UIW2	PLXA1_HUMAN	plexin A1	1880					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)		CGGCGGCAGCGGCTGCGGAGC	0.652000													4	16					0	0	0.001168	0	0
KAT6B	23522	broad.mit.edu	37	10	76788252	76788252	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:76788252A>G	ENST00000287239.4	+	18	4159	c.3670A>G	c.(3670-3672)Atg>Gtg	p.M1224V	KAT6B_ENST00000372711.1_Missense_Mutation_p.M1041V|KAT6B_ENST00000372725.1_Missense_Mutation_p.M932V|KAT6B_ENST00000372714.1_Missense_Mutation_p.M932V|KAT6B_ENST00000372724.1_Missense_Mutation_p.M932V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1224					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTAAGACAATATGAATGATGA	0.373000													16	116					0	0	0.003163	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027417	26027417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr6:26027417C>T	ENST00000377364.3	-	1	63	c.64G>A	c.(64-66)Gtg>Atg	p.V22M		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	22					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TCCCGCAGCACTTTTCGGTGA	0.532000													10	64					0	0	0.008291	0	0
EVI5L	115704	broad.mit.edu	37	19	7916351	7916351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr19:7916351G>A	ENST00000270530.4	+	7	981	c.785G>A	c.(784-786)cGt>cAt	p.R262H	EVI5L_ENST00000538904.2_Missense_Mutation_p.R262H	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	262	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACCCACTTCCGTTCCCAAAGC	0.647000													39	81					0	0	0.005524	0	0
PYGM	5837	broad.mit.edu	37	11	64519456	64519456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr11:64519456G>A	ENST00000164139.3	-	14	2106	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	PYGM_ENST00000377432.3_Missense_Mutation_p.R482W|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	570					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCGTGAATCCGCTTCACCTGG	0.512000													15	81					0	0	0.003163	0	0
DPP6	1804	broad.mit.edu	37	7	154561189	154561189	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr7:154561189G>A	ENST00000404039.1	+	9	1341	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	DPP6_ENST00000427557.1_Missense_Mutation_p.A209T|DPP6_ENST00000377770.3_Missense_Mutation_p.A316T|DPP6_ENST00000332007.3_Missense_Mutation_p.A254T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	316					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACTCGCCTACGCCGCCATCAA	0.522000													12	65					0	0	0.001368	0	0
FAT1	2195	broad.mit.edu	37	4	187540845	187540845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr4:187540845C>A	ENST00000441802.2	-	10	7104	c.6895G>T	c.(6895-6897)Gga>Tga	p.G2299*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2299	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGACGTTCCAATTACAGAT	0.433000										HNSCC(5;0.00058)			82	54					1.15773e-35	4.77251e-35	0.003610	1	0
MBL2	4153	broad.mit.edu	37	10	54528241	54528241	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:54528241C>T	ENST00000373968.3	-	4	467	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	135	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						AACTTGTTCCCAACTTGTTTG	0.453000													18	103					0	0	0.002299	0	0
NRXN1	9378	broad.mit.edu	37	2	50149201	50149201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:50149201G>A	ENST00000404971.1	-	24	5864	c.4525C>T	c.(4525-4527)Cga>Tga	p.R1509*	NRXN1_ENST00000405472.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.R1469*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.R457*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.R404*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.R1439*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.R1439*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.R1461*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1439					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1510*(1)|p.R1439*(1)|p.R404*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTAGTTTCGACTCTCGTCC	0.478000													37	60					0	0	0.003755	0	0
DUPD1	338599	broad.mit.edu	37	10	76797686	76797686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:76797686T>G	ENST00000338487.5	-	3	570	c.571A>C	c.(571-573)Aag>Cag	p.K191Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	191	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGAGCTGCTTCAAAAAGCCC	0.642000													19	65					0	0	0.008871	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131890487	131890487	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:131890487T>C	ENST00000403716.1	+	6	906	c.346T>C	c.(346-348)Tct>Cct	p.S116P	PLEKHB2_ENST00000404460.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.S68P|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.S116P|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.S116P|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.S116P	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	116						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GTATGTGGGCTCTGCAGTCAT	0.572000													31	85					0	0	0.002836	0	0
SOX11	6664	broad.mit.edu	37	2	5833737	5833737	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:5833737A>T	ENST00000322002.3	+	1	939	c.884A>T	c.(883-885)gAc>gTc	p.D295V		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	295					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCCTCTACGACGAGGTGCGG	0.711000													3	5					0	0	0.000248	0	0
BMP2	650	broad.mit.edu	37	20	6759194	6759194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr20:6759194A>G	ENST00000378827.4	+	3	1868	c.649A>G	c.(649-651)Act>Gct	p.T217A		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	217					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GATGCGGTGGACTGCACAGGG	0.522000													4	49					0	0	0.000248	0	0
GRK5	2869	broad.mit.edu	37	10	121212266	121212266	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr10:121212266C>T	ENST00000392870.2	+	14	1817	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	GRK5_ENST00000369108.3_Silent_p.D391D|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	496	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACACAGACGACGACTTCTACT	0.597000													9	25					0	0	0.006214	0	0
PDE3A	5139	broad.mit.edu	37	12	20782996	20782996	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:20782996A>T	ENST00000359062.3	+	6	1735	c.1695A>T	c.(1693-1695)ttA>ttT	p.L565F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	565					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACAGGGCCTTAACTTACACTC	0.453000													77	121					0	0	0.003610	0	0
SOX9	6662	broad.mit.edu	37	17	70120341	70120341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:70120341C>T	ENST00000245479.2	+	3	1715	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	448					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACCAGAACTCCAGCTCCTAC	0.637000													21	151					0	0	0.001523	0	0
BAP1	8314	broad.mit.edu	37	3	52439912	52439913	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:52439912_52439913delTG	ENST00000460680.1	-	10	1270_1271	c.799_800delCA	c.(799-801)gfs	p.Q267fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q249fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	267					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q267*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGCTCTGGCTGTGTTACTCTT	0.520			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							21	44	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153251878	153251886	+	Splice_Site	DEL	AGTTACCTT	AGTTACCTT	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:153251878_153251886delAGTTACCTT	ENST00000281708.4	-	7	2349_2352	c.1122_splice	c.e7+1	p.374_splice	FBXW7_ENST00000603841.1_Splice_Site_p.374_splice|FBXW7_ENST00000263981.5_Splice_Site_p.294_splice|FBXW7_ENST00000393956.3_Splice_Site_p.198_splice|FBXW7_ENST00000296555.5_Splice_Site_p.256_splice|FBXW7_ENST00000603548.1_Splice_Site_p.374_splice	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	374					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCAGAGTTCAGTTACCTTAGGAGATTTG	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								43	56	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													7	158	---	---	---	---					
CD300E	342510	broad.mit.edu	37	17	72608823	72608823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:72608823delT	ENST00000392619.1	-	4	703	c.668delA	c.(667-669)acfs	p.N223fs	CD300E_ENST00000426295.2_Frame_Shift_Del_p.N237fs|CD300E_ENST00000328630.3_Frame_Shift_Del_p.N196fs	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	196						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGAGGCCTGTTCACCCAGAA	0.632													26	98	---	---	---	---					
TLDC2	140711	broad.mit.edu	37	20	35515884	35515884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:35515884delT	ENST00000217320.3	+	5	509	c.465delT	c.(463-465)tcfs	p.S155fs	TLDC2_ENST00000602922.1_Frame_Shift_Del_p.S155fs	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GAAGCAACTCTTTCTTTGTGA	0.532											OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	112	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33060638	33060639	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr21:33060638_33060639insA	ENST00000286835.7	-	16	2406_2407	c.2024_2025insT	c.(2023-2025)aacfs	p.N675fs	SCAF4_ENST00000434667.3_Frame_Shift_Ins_p.N660fs|SCAF4_ENST00000399804.1_Frame_Shift_Ins_p.N675fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	675						nucleus	nucleotide binding|RNA binding	p.I675T(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTGGCACTGTTATAGGTGCAGG	0.441													38	118	---	---	---	---					
LINC01122	400955	broad.mit.edu	37	2	58687298	58687298	+	RNA	DEL	T	T	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr2:58687298delT	ENST00000452840.1	+	0	127																											TCTGTGTTTCTTTTTTTTTTC	0.313													3	4	---	---	---	---					
BAP1	8314	broad.mit.edu	37	3	52439912	52439913	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr3:52439912_52439913delTG	ENST00000460680.1	-	10	1270_1271	c.799_800delCA	c.(799-801)gfs	p.Q267fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q249fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	267					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q267*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGCTCTGGCTGTGTTACTCTT	0.520			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							21	44	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153251878	153251886	+	Splice_Site	DEL	AGTTACCTT	AGTTACCTT	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr4:153251878_153251886delAGTTACCTT	ENST00000281708.4	-	7	2349_2352	c.1122_splice	c.e7+1	p.374_splice	FBXW7_ENST00000296555.5_Splice_Site_p.256_splice|FBXW7_ENST00000603841.1_Splice_Site_p.374_splice|FBXW7_ENST00000393956.3_Splice_Site_p.198_splice|FBXW7_ENST00000603548.1_Splice_Site_p.374_splice|FBXW7_ENST00000263981.5_Splice_Site_p.294_splice	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	374					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCAGAGTTCAGTTACCTTAGGAGATTTG	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								43	56	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406													2	4	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													6	2	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													4	6	---	---	---	---					
CD300E	342510	broad.mit.edu	37	17	72608823	72608823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr17:72608823delT	ENST00000392619.1	-	4	703	c.668delA	c.(667-669)acfs	p.N223fs	CD300E_ENST00000426295.2_Frame_Shift_Del_p.N237fs|CD300E_ENST00000328630.3_Frame_Shift_Del_p.N196fs	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	196						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGAGGCCTGTTCACCCAGAA	0.632													26	98	---	---	---	---					
TLDC2	140711	broad.mit.edu	37	20	35515884	35515884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr20:35515884delT	ENST00000217320.3	+	5	509	c.465delT	c.(463-465)tcfs	p.S155fs	TLDC2_ENST00000602922.1_Frame_Shift_Del_p.S155fs	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GAAGCAACTCTTTCTTTGTGA	0.532											OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	112	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33060638	33060639	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d7331dbc-eaef-46db-be3f-7e6864aaaa82	g.chr21:33060638_33060639insA	ENST00000286835.7	-	16	2406_2407	c.2024_2025insT	c.(2023-2025)aacfs	p.N675fs	SCAF4_ENST00000434667.3_Frame_Shift_Ins_p.N660fs|SCAF4_ENST00000399804.1_Frame_Shift_Ins_p.N675fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	675						nucleus	nucleotide binding|RNA binding	p.I675T(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTGGCACTGTTATAGGTGCAGG	0.441													38	118	---	---	---	---