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
CROCCP2	84809	broad.mit.edu	37	1	16958833	16958833	+	RNA	SNP	T	T	A	rs28687450	by1000genomes	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:16958833T>A	ENST00000412962.1	-	0	74																											TCTGCTTCTGTAGACGCTTCA	0.587000													6	26					0	0	0.00116845	0	0
PRR12	57479	broad.mit.edu	37	19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:50098071G>A	ENST00000418929.2	+	4	491	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	573	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662000													6	13					0	0	0.00116845	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6820509	6820509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:6820509C>A	ENST00000403107.1	+	13	1986	c.1599C>A	c.(1597-1599)tgC>tgA	p.C533*	RSPH10B2_ENST00000433859.2_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000297186.3_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000404077.1_Nonsense_Mutation_p.C533*					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CAAATGCCTGCCAGATAAAAG	0.398000													5	140					4.68919e-08	1.92021e-07	0.000673444	1	0
TLR8	51311	broad.mit.edu	37	X	12938009	12938009	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:12938009C>G	ENST00000218032.6	+	2	937	c.850C>G	c.(850-852)Caa>Gaa	p.Q284E	TLR8_ENST00000311912.5_Missense_Mutation_p.Q302E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	284					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTTGCTTTTCAAAACTTGAC	0.438000													14	19					0	0	0.000308642	0	0
SPZ1	84654	broad.mit.edu	37	5	79616524	79616524	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:79616524C>G	ENST00000296739.4	+	1	735	c.490C>G	c.(490-492)Ctt>Gtt	p.L164V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TATCAGAGGACTTGACAAAAT	0.368000													7	33					0	0	0.000157383	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816398	156816398	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:156816398T>A	ENST00000347377.6	+	29	3840	c.3409T>A	c.(3409-3411)Tac>Aac	p.Y1137N	CYFIP2_ENST00000521420.1_Missense_Mutation_p.Y1111N|CYFIP2_ENST00000435847.2_Missense_Mutation_p.Y836N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.Y941N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.Y1137N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.Y1162N|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.Y1062N	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1162					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGTTCGTGTACTGCATCCC	0.622000													7	15					0	0	0.00198382	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229858	154229858	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154229858C>T	ENST00000428931.1	+	20	2557	c.2390C>T	c.(2389-2391)cCg>cTg	p.P797L	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P797L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P797L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P808L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	797					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTCCCGCCGTTGTTGCCT	0.473000													14	77					0	0	0.00074312	0	0
YWHAH	7533	broad.mit.edu	37	22	32352249	32352249	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:32352249A>G	ENST00000248975.5	+	2	484	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	71					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GCAGAAAACCATGGCTGATGG	0.468000													12	70					0	0	0.000978159	0	0
NCOA1	8648	broad.mit.edu	37	2	24929454	24929454	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24929454C>G	ENST00000405141.1	+	14	1826	c.1115C>G	c.(1114-1116)tCt>tGt	p.S372C	NCOA1_ENST00000407230.1_Missense_Mutation_p.S221C|NCOA1_ENST00000406961.1_Missense_Mutation_p.S372C|NCOA1_ENST00000395856.3_Missense_Mutation_p.S372C|NCOA1_ENST00000348332.3_Missense_Mutation_p.S372C|NCOA1_ENST00000288599.5_Missense_Mutation_p.S372C|NCOA1_ENST00000538539.1_Missense_Mutation_p.S372C			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	372	Interaction with STAT3.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGCTTTCTCCTCAAGAT	0.383000			T	PAX3	alveolar rhadomyosarcoma								23	36					0	0	0.00229938	0	0
TESK2	10420	broad.mit.edu	37	1	45923296	45923296	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:45923296C>T	ENST00000372086.3	-	2	562	c.162G>A	c.(160-162)acG>acA	p.T54T	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000451835.2_Silent_p.T54T|TESK2_ENST00000372084.1_Silent_p.T54T|TESK2_ENST00000341771.6_Silent_p.T54T	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	54					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CATCCAAACGCGTCAGTCTGG	0.453000													14	59					0	0	0.00185496	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143663	142143663	+	RNA	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:142143663G>T	ENST00000390373.2	-	0	332																											AGTAACTGCTGGCACAGAAGT	0.542000													53	99					1.4374e-25	6.27151e-25	0.000781405	1	0
HSFY1P1	27437	broad.mit.edu	37	22	17308543	17308543	+	RNA	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:17308543G>A	ENST00000425038.1	+	0	180					NR_003607.1																						CATAATCCCTGGGGATTCAGA	0.413000													4	16					0	0	0.00024832	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515481	70515481	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:70515481C>T	ENST00000533541.1	-	4	719	c.481G>A	c.(481-483)Gag>Aag	p.E161K	SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000357887.3_Intron			P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	0					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCTCACTCTCACCTGGGACA	0.488000													4	20					0	0	0.00024832	0	0
IDH3B	3420	broad.mit.edu	37	20	2640753	2640753	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:2640753G>A	ENST00000380843.4	-	9	868	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	IDH3B_ENST00000380851.5_Silent_p.L280L|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	280					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCAGCAGCCAGATTGTCAATA	0.517000													18	89					0	0	0.000958276	0	0
SDHAP1	255812	broad.mit.edu	37	3	195706728	195706728	+	RNA	SNP	C	C	T	rs3963740	by1000genomes	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:195706728C>T	ENST00000427841.1	-	0	908					NR_003264.2																						CAAGTAGTTGCGCCAGTAGCC	0.597000													4	23					0	0	0.000274275	0	0
DOCK7	85440	broad.mit.edu	37	1	63005304	63005304	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:63005304T>C	ENST00000251157.5	-	27	3245	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	DOCK7_ENST00000340370.5_Missense_Mutation_p.N1040S	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1071					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAGGCTTGTATTGAGTCTCTC	0.343000													17	77					0	0	0.000958276	0	0
AMPH	273	broad.mit.edu	37	7	38530746	38530746	+	Splice_Site	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:38530746C>G	ENST00000356264.2	-	5	516		c.e5-1		AMPH_ENST00000325590.5_Splice_Site|AMPH_ENST00000428293.2_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CATCACATTTCTAAAAGAAAT	0.353000													16	143					0	0	0.000422831	0	0
SON	6651	broad.mit.edu	37	21	34923284	34923284	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr21:34923284G>C	ENST00000356577.4	+	3	2222	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	SON_ENST00000381679.4_Missense_Mutation_p.E583Q|SON_ENST00000290239.6_Missense_Mutation_p.E583Q|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E583Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	583					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAGGGCACTGGAGTTGTCGGG	0.667000													12	50					0	0	0.000978159	0	0
CPNE2	221184	broad.mit.edu	37	16	57147238	57147238	+	Silent	SNP	C	C	T	rs138897886		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:57147238C>T	ENST00000535318.2	+	4	580	c.219C>T	c.(217-219)ccC>ccT	p.P73P	CPNE2_ENST00000565874.1_Silent_p.P73P|CPNE2_ENST00000290776.8_Silent_p.P73P|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	73	C2 1.							p.P73P(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ACCTCAACCCCGCCTTCTCCA	0.552000													9	66					0	0	0.000442599	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584478	145584478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr8:145584478C>G	ENST00000532887.1	+	5	1724	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	SLC52A2_ENST00000527078.1_Missense_Mutation_p.L381V|SLC52A2_ENST00000402965.1_Missense_Mutation_p.L381V|SLC52A2_ENST00000526752.1_Missense_Mutation_p.A49G|SLC52A2_ENST00000329994.2_Missense_Mutation_p.L381V|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L293V|SLC52A2_ENST00000530047.1_Missense_Mutation_p.L381V			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	381						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTCGTGGGTGCTGTGTCTTGG	0.677000													18	76					0	0	0.00074312	0	0
KIAA0319	9856	broad.mit.edu	37	6	24570136	24570136	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:24570136G>A	ENST00000535378.1	-	13	2601	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	KIAA0319_ENST00000378214.3_Silent_p.H662H|KIAA0319_ENST00000430948.2_Silent_p.H617H|KIAA0319_ENST00000543707.1_Silent_p.H662H|KIAA0319_ENST00000537886.1_Silent_p.H662H	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	662	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTACCTGACGTGCTCCCAGT	0.527000													10	21					0	0	0.000978159	0	0
NLRP8	126205	broad.mit.edu	37	19	56490773	56490773	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56490773C>T	ENST00000291971.3	+	9	2961	c.2890C>T	c.(2890-2892)Ctg>Ttg	p.L964L	NLRP8_ENST00000590542.1_Silent_p.L945L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	964						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAAAACTGCCTGTTCACCTC	0.517000													29	48					0	0	0.00127121	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561108	32561108	+	Silent	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:32561108A>G	ENST00000345122.3	+	2	1548	c.1233A>G	c.(1231-1233)gaA>gaG	p.E411E	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.E411E|ARHGAP5_ENST00000432921.1_Silent_p.E411E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.E411E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	411	FF 2.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAGAAGCTGAAAAAGTCTATC	0.368000													37	75					0	0	0.00170553	0	0
EPHA4	2043	broad.mit.edu	37	2	222298932	222298932	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:222298932C>T	ENST00000281821.2	-	14	2467	c.2426G>A	c.(2425-2427)aGc>aAc	p.S809N	EPHA4_ENST00000409854.1_Missense_Mutation_p.S809N|EPHA4_ENST00000392071.4_Missense_Mutation_p.S758N|EPHA4_ENST00000409938.1_Missense_Mutation_p.S809N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	809	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GATTCCATAGCTCCATACATC	0.433000													34	57					0	0	0.00058488	0	0
OR2T4	127074	broad.mit.edu	37	1	248525032	248525032	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:248525032C>G	ENST00000366475.1	+	1	150	c.150C>G	c.(148-150)ttC>ttG	p.F50L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGACTCTTCAGACAATCCA	0.468000													15	125					0	0	0.00244969	0	0
NPTN	27020	broad.mit.edu	37	15	73925476	73925476	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:73925476G>C	ENST00000351217.6	-	1	999	c.81C>G	c.(79-81)gcC>gcG	p.A27A	NPTN_ENST00000562924.1_Silent_p.A27A|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000545878.1_Silent_p.A27A|NPTN_ENST00000542234.1_Silent_p.A27A|NPTN_ENST00000345330.4_Silent_p.A27A|NPTN_ENST00000287226.8_Silent_p.A27A|NPTN_ENST00000563691.1_Silent_p.A27A	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	27					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CGTTCTGAGCGGCGCCTGGCC	0.751000													15	19					0	0	0.000308642	0	0
ARSJ	79642	broad.mit.edu	37	4	114824711	114824711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:114824711C>T	ENST00000315366.7	-	2	1385	c.519G>A	c.(517-519)atG>atA	p.M173I	ARSJ_ENST00000541197.1_Missense_Mutation_p.M173I	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	173						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ATTTTCCGACCATATGCGTTG	0.433000													16	83					0	0	0.000566183	0	0
PPEF1	5475	broad.mit.edu	37	X	18748392	18748392	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:18748392C>G	ENST00000361511.4	+	5	634	c.140C>G	c.(139-141)tCc>tGc	p.S47C	PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.S47C|PPEF1_ENST00000543630.1_Missense_Mutation_p.S47C|PPEF1_ENST00000349874.5_Missense_Mutation_p.S47C|PPEF1_ENST00000471570.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	47					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATCTTCCAGTCCATCGAATAT	0.443000													18	28					0	0	0.00121646	0	0
NEXN	91624	broad.mit.edu	37	1	78395180	78395180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:78395180G>C	ENST00000330010.8	+	8	1149	c.852G>C	c.(850-852)agG>agC	p.R284S	NEXN_ENST00000457030.1_Missense_Mutation_p.R334S|NEXN_ENST00000334785.7_Missense_Mutation_p.R348S	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	348	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTGAAGCAAGGAGAAATATGG	0.353000													14	63					0	0	0.000308642	0	0
TBL2	26608	broad.mit.edu	37	7	72988772	72988772	+	Silent	SNP	G	G	T	rs145718922		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:72988772G>T	ENST00000305632.5	-	2	443	c.202C>A	c.(202-204)Cgg>Agg	p.R68R	TBL2_ENST00000452475.1_Silent_p.R68R|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.R32R	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	68										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTCCTTCCGAATCCGCTGA	0.522000													14	59					9.31168e-06	3.68944e-05	0.00185496	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119133482	119133482	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:119133482G>A	ENST00000264245.4	+	12	3238	c.2706G>A	c.(2704-2706)ctG>ctA	p.L902L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	902					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCATGGCCTGGAGATGGTGG	0.572000													36	141					0	0	0.00283554	0	0
EN1	2019	broad.mit.edu	37	2	119600538	119600538	+	Silent	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:119600538G>T	ENST00000295206.6	-	2	1665	c.1155C>A	c.(1153-1155)gtC>gtA	p.V385V		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	385					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTTTGTCCTGGACCGTGGTGG	0.692000													8	41					1.12685e-05	4.44076e-05	0.000274275	1	0
SLC6A18	348932	broad.mit.edu	37	5	1232407	1232407	+	Silent	SNP	C	C	T	rs141321317	byFrequency	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:1232407C>T	ENST00000324642.3	+	2	357	c.234C>T	c.(232-234)atC>atT	p.I78I	SLC6A18_ENST00000296821.4_Silent_p.I78I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	78					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGCTCGCCATCGGCCAGCGGC	0.662000													5	44					0	0	0.00116845	0	0
RBM17	84991	broad.mit.edu	37	10	6148125	6148125	+	Silent	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:6148125A>G	ENST00000446108.1	+	5	1073	c.429A>G	c.(427-429)gaA>gaG	p.E143E	RBM17_ENST00000379888.4_Silent_p.E143E	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	143					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						ACAGACATGAAGCAAGTGGGT	0.408000													5	18					0	0	0.00116845	0	0
MPDZ	8777	broad.mit.edu	37	9	13107074	13107074	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:13107074C>T	ENST00000319217.7	-	47	6350	c.6103G>A	c.(6103-6105)Gat>Aat	p.D2035N	MPDZ_ENST00000538841.1_Missense_Mutation_p.D894N|MPDZ_ENST00000541093.1_Missense_Mutation_p.D269N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D2049N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1973N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D2002N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D2006N|MPDZ_ENST00000381022.2_Missense_Mutation_p.D2006N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D2035N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2035	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGATCTGATCGCCCCTTTTC	0.448000													63	89					0	0	0.000781405	0	0
IL17RE	132014	broad.mit.edu	37	3	9944734	9944734	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:9944734C>G	ENST00000454190.2	+	1	203	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	IL17RE_ENST00000383814.3_Missense_Mutation_p.L40V|IL17RE_ENST00000421412.1_Missense_Mutation_p.L73V|IL17RE_ENST00000295980.3_Missense_Mutation_p.L40V	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	40						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CCGCTGTCCTCTGGCCTCCCA	0.637000													14	45					0	0	0.00244969	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73969808	73969808	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:73969808G>A	ENST00000476977.1	+	19	3698	c.2007G>A	c.(2005-2007)aaG>aaA	p.K669K	GTF2IRD1_ENST00000455841.2_Silent_p.K701K|GTF2IRD1_ENST00000489094.1_Intron|GTF2IRD1_ENST00000424337.2_Silent_p.K669K|GTF2IRD1_ENST00000265755.3_Silent_p.K684K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	684						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGCCTGAAGAGACAGGGCT	0.607000													6	27					0	0	0.00198382	0	0
ZIC4	84107	broad.mit.edu	37	3	147114162	147114162	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:147114162G>C	ENST00000383075.3	-	3	677	c.165C>G	c.(163-165)ccC>ccG	p.P55P	ZIC4_ENST00000473123.1_Silent_p.P55P|ZIC4_ENST00000425731.3_Silent_p.P93P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Silent_p.P55P|ZIC4_ENST00000525172.2_Silent_p.P105P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	55						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGACGGCTGGGGGAGGCCT	0.721000													7	33					0	0	0.00198382	0	0
C17orf77	146723	broad.mit.edu	37	17	72588200	72588200	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:72588200G>A	ENST00000392620.1	+	3	377	c.15G>A	c.(13-15)gcG>gcA	p.A5A	C17orf77_ENST00000328023.2_Silent_p.A5A|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	5						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATGAATTGGCGCTGTCATTTT	0.453000													21	159					0	0	0.00278032	0	0
LRRC31	79782	broad.mit.edu	37	3	169569457	169569457	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:169569457G>A	ENST00000316428.5	-	7	1166	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	LRRC31_ENST00000523069.1_Missense_Mutation_p.S370L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S314L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	370										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GATAACTAATGACTTCAATGC	0.413000													9	78					0	0	0.000274275	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351117	89351117	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89351117G>A	ENST00000301030.4	-	9	2293	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ANKRD11_ENST00000378330.2_Silent_p.F611F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	611						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCTGGACAGGAAGGGGCTCT	0.537000													12	65					0	0	0.000978159	0	0
FNBP4	23360	broad.mit.edu	37	11	47753052	47753052	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:47753052C>G	ENST00000263773.5	-	12	1894	c.1882G>C	c.(1882-1884)Gat>Cat	p.D628H		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	628	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTTCACCATCTGGAAACTCC	0.403000													14	78					0	0	0.000422831	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499644	104499644	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:104499644C>G	ENST00000361820.3	-	1	1218	c.618G>C	c.(616-618)atG>atC	p.M206I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	206					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CGAGCTCCATCATTTCGCCCT	0.602000													36	22					0	0	0.000692331	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407451	75407451	+	Silent	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:75407451T>C	ENST00000394810.2	-	4	2108	c.1959A>G	c.(1957-1959)ctA>ctG	p.L653L	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Silent_p.L429L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	653	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTACCAGCGATAGCAGCTCGG	0.632000													31	157					0	0	0.00283554	0	0
FAM102A	399665	broad.mit.edu	37	9	130712747	130712747	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:130712747C>T	ENST00000373095.1	-	4	744	c.369G>A	c.(367-369)gaG>gaA	p.E123E	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	123										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TGTCATATCCCTCGAGCAGGC	0.622000													10	91					0	0	0.000978159	0	0
FAT1	2195	broad.mit.edu	37	4	187517874	187517874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:187517874C>A	ENST00000441802.2	-	25	13029	c.12820G>T	c.(12820-12822)Gaa>Taa	p.E4274*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4274					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						GCAGATCCTTCGAAGGAATTT	0.532000										HNSCC(5;0.00058)			19	14					7.45023e-12	3.17501e-11	0.00152264	1	0
TNRC6C	57690	broad.mit.edu	37	17	76045219	76045219	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:76045219G>A	ENST00000335749.4	+	3	645	c.76G>A	c.(76-78)Gca>Aca	p.A26T	TNRC6C_ENST00000541771.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A26T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A26T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	26	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAATGGCGCACTCGTCCA	0.552000													13	74					0	0	0.00136819	0	0
WNK3	65267	broad.mit.edu	37	X	54259359	54259359	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:54259359G>T	ENST00000354646.2	-	21	5161	c.4723C>A	c.(4723-4725)Caa>Aaa	p.Q1575K	WNK3_ENST00000375159.2_Missense_Mutation_p.Q1575K|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1528K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1528					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.Q1575*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCAGTAGATTGGGTTTTGCTA	0.468000													18	28					8.10497e-08	3.30052e-07	0.00152264	1	0
CABIN1	23523	broad.mit.edu	37	22	24567922	24567922	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:24567922A>G	ENST00000398319.2	+	34	6384	c.5999A>G	c.(5998-6000)cAc>cGc	p.H2000R	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Missense_Mutation_p.H1921R|CABIN1_ENST00000337989.7_Missense_Mutation_p.H425R|CABIN1_ENST00000263119.5_Missense_Mutation_p.H2000R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2000					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCGGCCACACAGGCCTGAA	0.657000													9	42					0	0	0.000274275	0	0
GOLM1	51280	broad.mit.edu	37	9	88650342	88650342	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:88650342T>A	ENST00000388712.3	-	8	1124	c.956A>T	c.(955-957)gAg>gTg	p.E319V	GOLM1_ENST00000388711.3_Missense_Mutation_p.E319V	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	319						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGGTCTCGCTCAGGGCCCTC	0.647000											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	110					0	0	0.000958276	0	0
SNX16	64089	broad.mit.edu	37	8	82752108	82752108	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr8:82752108A>T	ENST00000396330.2	-	3	620	c.114T>A	c.(112-114)aaT>aaA	p.N38K	SNX16_ENST00000345957.4_Missense_Mutation_p.N38K|SNX16_ENST00000353788.4_Missense_Mutation_p.N38K	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	38					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CCTTAGAAGAATTTGAGCTTG	0.393000													37	64					0	0	0.000814825	0	0
TRAC	28755	broad.mit.edu	37	14	23021075	23021075	+	RNA	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23021075C>T	ENST00000478163.3	+	0	952																											CCGATGCCTTCATTAAAATGA	0.473000													8	41					0	0	0.000157383	0	0
ZNF43	7594	broad.mit.edu	37	19	21992242	21992242	+	Silent	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:21992242C>A	ENST00000594012.1	-	7	1093	c.579G>T	c.(577-579)gtG>gtT	p.V193V	ZNF43_ENST00000354959.4_Silent_p.V199V|ZNF43_ENST00000595461.1_Silent_p.V193V|ZNF43_ENST00000598381.1_Silent_p.V193V	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGCAGAAATTCACTCTGGTAT	0.333000													9	40					0.000442599	0.00171654	0.000442599	1	0
SLC4A11	83959	broad.mit.edu	37	20	3214600	3214600	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:3214600C>T	ENST00000380059.3	-	6	802	c.701G>A	c.(700-702)gGg>gAg	p.G234E	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.G207E|SLC4A11_ENST00000539553.1_Missense_Mutation_p.G191E	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	207					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTACCGCACCCCTGTCACTGT	0.622000													18	81					0	0	0.000958276	0	0
KPNB1	3837	broad.mit.edu	37	17	45745744	45745744	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:45745744G>C	ENST00000290158.4	+	10	1599	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	KPNB1_ENST00000540627.1_Missense_Mutation_p.E253Q|KPNB1_ENST00000537679.1_Missense_Mutation_p.E182Q|KPNB1_ENST00000535458.2_Missense_Mutation_p.E253Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	398	Ran-GTP binding.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GGAAGGACCAGAGCCCAGTCA	0.423000													9	65					0	0	0.000442599	0	0
MDC1	9656	broad.mit.edu	37	6	30668370	30668370	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:30668370G>T	ENST00000376406.3	-	15	6789	c.6142C>A	c.(6142-6144)Cat>Aat	p.H2048N	MDC1_ENST00000376405.2_Missense_Mutation_p.H1784N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2048	BRCT 2.|Required for nuclear localization (NLS2).			H -> R (in Ref. 2).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ATGGAGCAATGAGGGAAGTCC	0.537000								Other conserved DNA damage response genes					6	91					2.0095e-06	8.04897e-06	0.00198382	1	0
RABGGTB	5876	broad.mit.edu	37	1	76257189	76257189	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:76257189T>C	ENST00000319942.3	+	6	583	c.512T>C	c.(511-513)gTt>gCt	p.V171A	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	171					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						ATCGAATTTGTTTTATCCTGT	0.383000													19	70					0	0	0.00229938	0	0
USH2A	7399	broad.mit.edu	37	1	216497666	216497666	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:216497666C>G	ENST00000366943.2	-	7	1558	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	USH2A_ENST00000307340.3_Missense_Mutation_p.S391T|USH2A_ENST00000366942.3_Missense_Mutation_p.S391T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	391	Laminin N-terminal.		S -> I (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTTGTGGACTAAAGAACTG	0.318000										HNSCC(13;0.011)			4	24					0	0	0.00024832	0	0
ASCL1	429	broad.mit.edu	37	12	103352724	103352724	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:103352724C>G	ENST00000266744.3	+	1	1261	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	234					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						ACTTCACCAACTGGTTCTGAG	0.617000													6	34					0	0	0.000157383	0	0
OR51L1	119682	broad.mit.edu	37	11	5020608	5020608	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:5020608G>A	ENST00000321543.1	+	1	396	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCCACTGCACTACCCCA	0.493000													33	155					0	0	0.0024448	0	0
FAM175A	84142	broad.mit.edu	37	4	84383771	84383771	+	Silent	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:84383771G>T	ENST00000321945.7	-	9	1189	c.1081C>A	c.(1081-1083)Cgg>Agg	p.R361R	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.R312R	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	361					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TCTAACAACCGAGATCTCTTG	0.393000													34	120					1.26612e-14	5.4592e-14	0.00058488	1	0
LRFN5	145581	broad.mit.edu	37	14	42356819	42356819	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:42356819G>T	ENST00000554171.1	+	5	3423	c.991G>T	c.(991-993)Gca>Tca	p.A331S	LRFN5_ENST00000554120.1_Missense_Mutation_p.A331S|LRFN5_ENST00000298119.4_Missense_Mutation_p.A331S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	331	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TATTTCAAATGCAACAAGATC	0.468000										HNSCC(30;0.082)			11	77					0.000978159	0.00375388	0.000978159	1	0
ITGA2	3673	broad.mit.edu	37	5	52376453	52376453	+	Splice_Site	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:52376453T>C	ENST00000296585.5	+	25	3182		c.e25+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACAGACAAGGTAAAGATTAAA	0.383000													19	47					0	0	0.00152264	0	0
TMEM183A	92703	broad.mit.edu	37	1	202984173	202984173	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:202984173G>A	ENST00000367242.3	+	4	604	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			AGGTTGTACCGAAGGTGCGAC	0.463000													7	43					0	0	0.000157383	0	0
ZNF667	63934	broad.mit.edu	37	19	56953707	56953707	+	Missense_Mutation	SNP	C	C	G	rs140879761		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953707C>G	ENST00000504904.3	-	7	1376	c.657G>C	c.(655-657)atG>atC	p.M219I	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.M347I|ZNF667_ENST00000292069.6_Missense_Mutation_p.M219I			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATGAATTCTCATATGTAGAA	0.373000													26	69					0	0	0.000878237	0	0
ITGA11	22801	broad.mit.edu	37	15	68623327	68623327	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:68623327C>T	ENST00000423218.2	-	15	1988	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V	ITGA11_ENST00000315757.7_Silent_p.V631V			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	631					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACCACAGAATCACAGCGTTGC	0.547000													7	33					0	0	0.000442599	0	0
MOB1B	92597	broad.mit.edu	37	4	71840892	71840892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:71840892G>T	ENST00000309395.2	+	4	499	c.298G>T	c.(298-300)Gga>Tga	p.G100*	MOB1B_ENST00000396051.2_Nonsense_Mutation_p.G105*|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	100					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										TTGGGCAGATGGAACGAACAT	0.348000													6	43					5.9392e-07	2.40521e-06	0.00116845	1	0
ZNF862	643641	broad.mit.edu	37	7	149557670	149557670	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:149557670C>A	ENST00000223210.4	+	7	1666	c.1421C>A	c.(1420-1422)cCa>cAa	p.P474Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGGCAGTTCCCATGGTTAGTA	0.473000													30	145					7.01153e-11	2.93683e-10	0.00127121	1	0
TEAD3	7005	broad.mit.edu	37	6	35443391	35443391	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:35443391G>A	ENST00000338863.7	-	11	1220	c.993C>T	c.(991-993)gtC>gtT	p.V331V	TEAD3_ENST00000402886.3_Silent_p.V271V	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	331	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCTTGGTGGAGACGCTGATGG	0.617000													13	42					0	0	0.00136819	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828902	125828902	+	Silent	SNP	G	G	A	rs141918591		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125828902G>A	ENST00000393434.2	-	20	2581	c.2232C>T	c.(2230-2232)acC>acT	p.T744T	ALDH1L1_ENST00000472186.1_Silent_p.T744T|ALDH1L1_ENST00000452905.2_Silent_p.T643T|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.T754T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	744	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T744T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCCGTGGTCGGTGTCCCTGT	0.597000													10	86					0	0	0.000442599	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348862	89348862	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89348862C>T	ENST00000301030.4	-	9	4548	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1363Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1363	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCTCGCTCTCGGTCGTGGCT	0.562000													20	106					0	0	0.00121646	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18806883	18806883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:18806883C>G	ENST00000304414.7	-	4	522	c.311G>C	c.(310-312)aGa>aCa	p.R104T	RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.R104T|ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.R75T	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	104						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						TTCATGGAATCTTTGCTGTTG	0.388000													4	30					0	0	0.00024832	0	0
PRDM16	63976	broad.mit.edu	37	1	3319474	3319474	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:3319474G>A	ENST00000378398.3	+	7	881	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.E266K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E266K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E267K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E267K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E266K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E266K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	266					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCCTGGCTGAGGAGCTCAA	0.637000			T	EVI1	"""MDS, AML"""								17	60					0	0	0.000422831	0	0
ZBTB24	9841	broad.mit.edu	37	6	109796641	109796641	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:109796641C>A	ENST00000230122.3	-	5	1416	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.D417Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGAGACACATCCATGAATTTG	0.458000													16	73					3.41278e-10	1.42135e-09	0.000566183	1	0
LMAN2L	81562	broad.mit.edu	37	2	97377727	97377727	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:97377727G>A	ENST00000264963.4	-	5	565	c.543C>T	c.(541-543)aaC>aaT	p.N181N	LMAN2L_ENST00000537039.1_Silent_p.N43N|LMAN2L_ENST00000426463.2_Silent_p.N47N|LMAN2L_ENST00000377079.4_Silent_p.N192N|LMAN2L_ENST00000534882.1_Silent_p.N36N	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	181	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGAGGGAGCCGTTGTTCACCA	0.552000													16	121					0	0	0.000958276	0	0
CUBN	8029	broad.mit.edu	37	10	16918966	16918966	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:16918966C>T	ENST00000377833.4	-	57	9101	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3012	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAGCAGAACCGGCCCAGCGA	0.483000													24	57					0	0	0.000720815	0	0
NPAS4	266743	broad.mit.edu	37	11	66192179	66192179	+	Silent	SNP	C	C	T	rs141846354		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:66192179C>T	ENST00000311034.2	+	7	1994	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	606					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCTGGTGCCCGAAGGCCTGC	0.587000													57	108					0	0	0.000781405	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402771	139402771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:139402771G>A	ENST00000277541.6	-	20	3313	c.3238C>T	c.(3238-3240)Cag>Tag	p.Q1080*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1080	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGTACTGGGTGTGGGTC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			68	64					0	0	0.000781405	0	0
KLHL1	57626	broad.mit.edu	37	13	70370888	70370888	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:70370888T>C	ENST00000377844.4	-	7	2380	c.1621A>G	c.(1621-1623)Aca>Gca	p.T541A	KLHL1_ENST00000545028.1_Missense_Mutation_p.T348A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	541					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCTGTGTGTTGACATTGGT	0.323000													5	48					0	0	0.000602214	0	0
CENPJ	55835	broad.mit.edu	37	13	25483949	25483949	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:25483949C>T	ENST00000381884.4	-	4	1029	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E282K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	282					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTACGGTTTTCTTCTTTTAAA	0.358000													3	14					0	0	0.00024832	0	0
HDC	3067	broad.mit.edu	37	15	50534531	50534531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:50534531C>T	ENST00000267845.3	-	12	2317	c.1915G>A	c.(1915-1917)Gtc>Atc	p.V639I	HDC_ENST00000543581.1_Missense_Mutation_p.V606I	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	639					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.V639F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAGCTGGGGACGCTGTAGAAT	0.507000													23	125					0	0	0.00229938	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38600875	38600875	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:38600875G>A	ENST00000222345.6	+	8	2651	c.2142G>A	c.(2140-2142)cgG>cgA	p.R714R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	714	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCTGCTACGGAAGAGGCACA	0.617000													12	84					0	0	0.000978159	0	0
KRT37	8688	broad.mit.edu	37	17	39580043	39580043	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39580043C>T	ENST00000225550.3	-	2	545	c.546G>A	c.(544-546)gcG>gcA	p.A182A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	182	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.A182A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGCCAGCTTCGCGTTGTCAA	0.493000													12	63					0	0	0.00136819	0	0
FGFBP3	143282	broad.mit.edu	37	10	93668075	93668075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:93668075C>A	ENST00000311575.5	-	2	815	c.652G>T	c.(652-654)Gag>Tag	p.E218*		NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	218					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				ATGGGTCGCTCCTCGTTGGGG	0.667000													14	62					1.5842e-08	6.56056e-08	0.00185496	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140793166	140793166	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:140793166C>G	ENST00000398610.2	+	1	424	c.424C>G	c.(424-426)Cta>Gta	p.L142V	PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAAAATCTAGACGTAAA	0.413000													10	26					0	0	0.000442599	0	0
SNX3	8724	broad.mit.edu	37	6	108533400	108533400	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:108533400C>T	ENST00000230085.8	-	4	780	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SNX3_ENST00000426155.2_Missense_Mutation_p.E116K|SNX3_ENST00000349379.5_Missense_Mutation_p.E126K	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	148	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		TCTATTATTTCATCTTGTAAA	0.338000													4	23					0	0	0.00024832	0	0
SBF2	81846	broad.mit.edu	37	11	9838470	9838470	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:9838470A>G	ENST00000256190.8	-	29	4032	c.3895T>C	c.(3895-3897)Ttc>Ctc	p.F1299L		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1299	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGTTACTGAAGGAGGCCGAG	0.493000													16	47					0	0	0.000422831	0	0
EPHA7	2045	broad.mit.edu	37	6	94066437	94066437	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:94066437G>T	ENST00000369303.4	-	5	1506	c.1322C>A	c.(1321-1323)gCa>gAa	p.A441E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	441						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAACATACCTGCTTGACCAGT	0.398000													9	39					7.48243e-07	3.01353e-06	0.000442599	1	0
TTN	7273	broad.mit.edu	37	2	179539081	179539081	+	Silent	SNP	T	T	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:179539081T>G	ENST00000589042.1	-	151	34892	c.34668A>C	c.(34666-34668)ccA>ccC	p.P11556P	TTN_ENST00000591111.1_Silent_p.P11182P|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P10255P|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11319	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGCTAGGTGGTTCTTCTG	0.343000													4	6					0	0	0.00116845	0	0
GCNT2	2651	broad.mit.edu	37	6	10557455	10557455	+	Silent	SNP	C	C	T	rs56224370		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:10557455C>T	ENST00000316170.3	+	1	1216	c.799C>T	c.(799-801)Cta>Tta	p.L267L	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	269						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTATGTGGCTCTATCAAGAGA	0.488000													23	87					0	0	0.00047179	0	0
C12orf71	728858	broad.mit.edu	37	12	27235255	27235255	+	Silent	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:27235255C>G	ENST00000429849.2	-	1	192	c.162G>C	c.(160-162)ctG>ctC	p.L54L		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	54										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGACGGGAGGCAGAAAGTGGA	0.537000													3	65					0	0	0.00024832	0	0
HMCN1	83872	broad.mit.edu	37	1	185902690	185902690	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:185902690C>T	ENST00000271588.4	+	11	1791	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P521L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	521	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGCCCCCTCCGGTCATCCAA	0.413000													13	29					0	0	0.00185496	0	0
MPO	4353	broad.mit.edu	37	17	56355308	56355308	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:56355308G>A	ENST00000340482.3	-	6	1356	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	MPO_ENST00000225275.3_Silent_p.L362L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	362					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACGGCCAGCAGCCCCAGCTGG	0.647000													12	63					0	0	0.00136819	0	0
FAM13C	220965	broad.mit.edu	37	10	61012750	61012750	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:61012750T>A	ENST00000373867.3	-	13	1554	c.1089A>T	c.(1087-1089)gaA>gaT	p.E363D	FAM13C_ENST00000277705.6_Missense_Mutation_p.E467D|FAM13C_ENST00000468840.2_Missense_Mutation_p.E364D|FAM13C_ENST00000442566.3_Missense_Mutation_p.E468D|FAM13C_ENST00000435852.2_Missense_Mutation_p.E447D|FAM13C_ENST00000373868.2_Missense_Mutation_p.E447D|FAM13C_ENST00000419214.2_Missense_Mutation_p.E349D	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	447										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGAGTCCTCTTCCTCCTGCT	0.463000													13	65					0	0	0.000308642	0	0
ABCC8	6833	broad.mit.edu	37	11	17428228	17428228	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:17428228C>T	ENST00000302539.4	-	26	3398	c.3273G>A	c.(3271-3273)ctG>ctA	p.L1091L	ABCC8_ENST00000389817.3_Silent_p.L1090L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1090	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGCCACCTTCAGCCCTGTCC	0.612000													9	46					0	0	0.000442599	0	0
DENND6B	414918	broad.mit.edu	37	22	50752289	50752289	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:50752289G>A	ENST00000413817.2	-	14	1228	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		GAGGTGGGCCGTGTAAGCGGT	0.672000													9	21					0	0	0.00244969	0	0
DOCK4	9732	broad.mit.edu	37	7	111617324	111617324	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:111617324A>T	ENST00000428084.1	-	8	836	c.564T>A	c.(562-564)caT>caA	p.H188Q	DOCK4_ENST00000437633.1_Missense_Mutation_p.H188Q|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTTCTTCCGATGTCGATGTT	0.502000													5	16					0	0	0.000602214	0	0
BPIFB2	80341	broad.mit.edu	37	20	31604856	31604856	+	Silent	SNP	G	G	C	rs142934424	by1000genomes	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:31604856G>C	ENST00000170150.3	+	7	720	c.525G>C	c.(523-525)ctG>ctC	p.L175L		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	175						extracellular region	lipid binding										AGCTGTGCCTGAGCATCTCCA	0.617000													28	112					0	0	0.00106085	0	0
FCRL1	115350	broad.mit.edu	37	1	157773648	157773648	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:157773648C>T	ENST00000358292.3	-	3	357	c.306G>A	c.(304-306)caG>caA	p.Q102Q	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.Q102Q|FCRL1_ENST00000368176.3_Silent_p.Q102Q	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	102	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCACATTTATCTGGGATCTCC	0.527000													16	76					0	0	0.000308642	0	0
SP4	6671	broad.mit.edu	37	7	21550740	21550740	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21550740G>A	ENST00000222584.3	+	6	2426	c.2208G>A	c.(2206-2208)ggG>ggA	p.G736G		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	736					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AAGGTGGTGGGACAGCTCTTG	0.448000													9	92					0	0	0.000442599	0	0
DOCK6	57572	broad.mit.edu	37	19	11348922	11348922	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:11348922G>C	ENST00000294618.7	-	15	1713	c.1702C>G	c.(1702-1704)Cgc>Ggc	p.R568G	C19orf80_ENST00000591200.1_Intron	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	568	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCAAGGTTGCGCACGGAGCCC	0.672000													9	38					0	0	0.000673444	0	0
AP1G2	8906	broad.mit.edu	37	14	24030798	24030798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:24030798G>A	ENST00000308724.5	-	17	2535	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q594*	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	594					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCATCAGCCTGAGGGCCATCT	0.557000													8	36					0	0	0.000274275	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917279	97917279	+	RNA	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:97917279A>T	ENST00000534948.1	+	0	2057							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCACTGGGCAAGGTAATAGAG	0.403000													17	44					0	0	0.000958276	0	0
OR6C65	403282	broad.mit.edu	37	12	55794454	55794454	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:55794454T>A	ENST00000379665.2	+	1	241	c.142T>A	c.(142-144)Ttg>Atg	p.L48M		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATGTTAACATTGTCAAATAT	0.299000													11	19					0	0	0.000673444	0	0
ABL2	27	broad.mit.edu	37	1	179077340	179077340	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:179077340C>T	ENST00000502732.1	-	12	3265	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	ABL2_ENST00000344730.3_Missense_Mutation_p.G903E|ABL2_ENST00000512653.1_Missense_Mutation_p.G1006E|ABL2_ENST00000507173.1_Missense_Mutation_p.G897E|ABL2_ENST00000504405.1_Missense_Mutation_p.G882E|ABL2_ENST00000408940.3_Missense_Mutation_p.G985E|ABL2_ENST00000511413.1_Missense_Mutation_p.G918E|ABL2_ENST00000367623.4_Missense_Mutation_p.G1000E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1021	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTCTTTCCTCCTTCCTGTGT	0.567000			T	ETV6	AML								14	120					0	0	0.00244969	0	0
SETDB1	9869	broad.mit.edu	37	1	150923394	150923394	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:150923394G>A	ENST00000271640.5	+	13	2231	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.D681N	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATATTTTGGACATCACTTA	0.478000													14	80					0	0	0.00244969	0	0
ZNF536	9745	broad.mit.edu	37	19	30936342	30936342	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:30936342A>G	ENST00000355537.3	+	2	2020	c.1873A>G	c.(1873-1875)Aac>Gac	p.N625D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGTCCTGGGAACATGAAGGA	0.587000													22	108					0	0	0.00229938	0	0
ISLR2	57611	broad.mit.edu	37	15	74426446	74426446	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:74426446G>A	ENST00000361742.3	+	4	2120	c.1351G>A	c.(1351-1353)Gcg>Acg	p.A451T	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.A451T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A451T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A451T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A451T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A451T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A451T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	451					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCAGATCCTCGCGGACCCGGC	0.642000													5	17					0	0	0.00116845	0	0
FBXO18	84893	broad.mit.edu	37	10	5951018	5951018	+	Splice_Site	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:5951018G>A	ENST00000379999.5	+	5	1141	c.1037_splice	c.e5+1	p.R346_splice	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Splice_Site_p.R295_splice|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Splice_Site_p.R32_splice	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	295					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AACCTCATACGGTGAGCTTTG	0.478000													13	88					0	0	0.00136819	0	0
LAMA3	3909	broad.mit.edu	37	18	21330996	21330996	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr18:21330996A>C	ENST00000313654.9	+	5	1040	c.799A>C	c.(799-801)Acg>Ccg	p.T267P	LAMA3_ENST00000399516.3_Missense_Mutation_p.T267P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	267	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGAACCAATACGCTTCTTGG	0.438000													12	83					0	0	0.00185496	0	0
ZNF667	63934	broad.mit.edu	37	19	56953462	56953462	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953462C>A	ENST00000504904.3	-	7	1621	c.902G>T	c.(901-903)aGa>aTa	p.R301I	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.R429I|ZNF667_ENST00000292069.6_Missense_Mutation_p.R301I			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGCATGAATTCTTTTATGTAC	0.328000													14	54					0.000219431	0.000855549	0.00244969	1	0
CMKLR1	1240	broad.mit.edu	37	12	108686177	108686177	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:108686177G>A	ENST00000312143.7	-	3	926	c.563C>T	c.(562-564)tCc>tTc	p.S188F	CMKLR1_ENST00000550402.1_Missense_Mutation_p.S188F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S186F|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S188F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S186F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	188					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.S186F(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTGAAGCAGGATATTTTCCC	0.557000													6	41					0	0	0.00116845	0	0
RXFP3	51289	broad.mit.edu	37	5	33937333	33937333	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:33937333C>T	ENST00000330120.3	+	1	843	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	163						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ATGGTGACGTCCATGAACATG	0.582000													18	66					0	0	0.00074312	0	0
ANKHD1	54882	broad.mit.edu	37	5	139865277	139865277	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:139865277A>T	ENST00000297183.6	+	13	2226	c.2102A>T	c.(2101-2103)gAt>gTt	p.D701V	ANKHD1_ENST00000360839.2_Missense_Mutation_p.D701V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D701V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCACAGATGTGTCTCAG	0.378000													9	34					0	0	0.000673444	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258233	25258233	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:25258233G>A	ENST00000264864.6	+	4	882	c.693G>A	c.(691-693)aaG>aaA	p.K231K	PI4K2B_ENST00000512921.1_Silent_p.K135K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	231	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	p.K231K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAGGCAAAAAGTATGCTTTAG	0.373000													5	35					0	0	0.00116845	0	0
FOS	2353	broad.mit.edu	37	14	75746698	75746698	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:75746698C>G	ENST00000303562.4	+	2	469	c.260C>G	c.(259-261)cCa>cGa	p.P87R	FOS_ENST00000555242.1_Missense_Mutation_p.P87R|FOS_ENST00000535987.1_Missense_Mutation_p.P87R|FOS_ENST00000555686.1_5'UTR|FOS_ENST00000554617.1_Missense_Mutation_p.P87R	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	87					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		TCCGTGGCCCCATCGCAGACC	0.672000													8	64					0	0	0.000673444	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567050	84567050	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:84567050C>G	ENST00000369689.1	+	4	480	c.329C>G	c.(328-330)tCa>tGa	p.S110*	RIPPLY2_ENST00000369687.1_Nonsense_Mutation_p.S52*	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	110	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCCACAATTTCATTTTATGAA	0.323000													15	53					0	0	0.000958276	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833454	125833454	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125833454C>T	ENST00000393434.2	-	18	2377	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G	ALDH1L1_ENST00000472186.1_Silent_p.G676G|ALDH1L1_ENST00000452905.2_Silent_p.G575G|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Silent_p.G686G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	676	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGGGTGACTTCCCGCCCAGTT	0.617000													6	194					0	0	0.00116845	0	0
SCYL1	57410	broad.mit.edu	37	11	65294570	65294570	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:65294570C>T	ENST00000524944.1	+	6	864	c.831C>T	c.(829-831)ctC>ctT	p.L277L	SCYL1_ENST00000279270.6_Silent_p.L277L|SCYL1_ENST00000527009.1_Silent_p.L134L|SCYL1_ENST00000420247.2_Silent_p.L277L|SCYL1_ENST00000270176.5_Silent_p.L277L|SCYL1_ENST00000533862.1_Silent_p.L277L|SCYL1_ENST00000527630.1_Silent_p.L277L|SCYL1_ENST00000525364.1_Silent_p.L277L			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	277	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AAACCAACCTCTTCCTGGAGG	0.572000													8	74					0	0	0.000274275	0	0
MYH4	4622	broad.mit.edu	37	17	10352202	10352202	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:10352202C>T	ENST00000255381.2	-	31	4454	c.4344G>A	c.(4342-4344)aaG>aaA	p.K1448K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1448					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTTTGCTTCTTATCGAGAG	0.433000													4	52					0	0	0.00024832	0	0
GPR68	8111	broad.mit.edu	37	14	91701408	91701408	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:91701408G>A	ENST00000238699.3	-	2	281	c.17C>T	c.(16-18)cCt>cTt	p.P6L	GPR68_ENST00000531499.2_5'UTR|GPR68_ENST00000535815.1_5'UTR	NM_003485.3	NP_003476.3	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	0					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGGCCTGAAGGGGCCACACT	0.577000													5	66					0	0	0.000602214	0	0
GBA2	57704	broad.mit.edu	37	9	35741826	35741826	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:35741826C>T	ENST00000378094.4	-	4	1142	c.629G>A	c.(628-630)cGc>cAc	p.R210H	GBA2_ENST00000545786.1_Missense_Mutation_p.R216H|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Missense_Mutation_p.R210H			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	210					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACTTGGGCGCTCCAGGGA	0.587000													15	66					0	0	0.00244969	0	0
NLN	57486	broad.mit.edu	37	5	65054536	65054536	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:65054536G>C	ENST00000380985.5	+	2	362	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	62					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACAAGAACTGAGGAGCTCAT	0.448000													15	39					0	0	0.00244969	0	0
TRPV5	56302	broad.mit.edu	37	7	142606703	142606703	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:142606703G>A	ENST00000265310.1	-	14	2196	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	616					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGATCCCGGAGCGAGGCC	0.597000													10	64					0	0	0.000673444	0	0
BMPER	168667	broad.mit.edu	37	7	34125518	34125518	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:34125518A>T	ENST00000297161.2	+	14	1933	c.1559A>T	c.(1558-1560)gAt>gTt	p.D520V	BMPER_ENST00000426693.1_Missense_Mutation_p.D520V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	520	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTTGATGTGGATGACTTTGCT	0.468000													27	88					0	0	0.000878237	0	0
PIWIL3	440822	broad.mit.edu	37	22	25120933	25120933	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:25120933C>G	ENST00000332271.5	-	18	2595	c.2179G>C	c.(2179-2181)Gga>Cga	p.G727R	PIWIL3_ENST00000533313.1_Missense_Mutation_p.G609R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.G609R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	727	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGACCATCTCCCACTCCATCC	0.393000													10	32					0	0	0.000442599	0	0
COL11A1	1301	broad.mit.edu	37	1	103488537	103488537	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:103488537C>G	ENST00000358392.2	-	8	1359	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	COL11A1_ENST00000370096.3_Missense_Mutation_p.E336Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.E297Q|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	336	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTAAATATTTCTTCAACTGGA	0.318000													11	42					0	0	0.000978159	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964569	32964569	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:32964569C>T	ENST00000321639.5	+	10	2601	c.2273C>T	c.(2272-2274)gCg>gTg	p.A758V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	758						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGCTCTGCGCTACCCGCA	0.746000													5	17					0	0	0.000602214	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876495	53876495	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:53876495G>T	ENST00000267079.2	-	12	2218	c.1993C>A	c.(1993-1995)Cca>Aca	p.P665T	MAP3K12_ENST00000547488.1_Missense_Mutation_p.P698T|MAP3K12_ENST00000547035.1_Missense_Mutation_p.P698T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	665	Poly-Pro.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAGGAGGTGGTTCCCCTTTG	0.672000													25	94					1.5548e-18	6.7436e-18	0.000878237	1	0
WBP1	23559	broad.mit.edu	37	2	74687380	74687380	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:74687380G>C	ENST00000393972.3	+	5	687	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	WBP1_ENST00000233615.2_Missense_Mutation_p.E128Q|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Missense_Mutation_p.E125Q			Q96G27	WBP1_HUMAN	WW domain binding protein 1	128	Poly-Ser.						WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCCAGCCTACGAGGATGTGGT	0.552000													46	146					0	0	0.000781405	0	0
RAD52	5893	broad.mit.edu	37	12	1023104	1023104	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:1023104C>A	ENST00000358495.3	-	11	1289	c.1151G>T	c.(1150-1152)gGa>gTa	p.G384V	RAD52_ENST00000539046.1_Missense_Mutation_p.G307V|RAD52_ENST00000430095.2_Missense_Mutation_p.G384V|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	384					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCCCAAGATCCAGATTTTGC	0.488000								Homologous recombination					29	65					3.57733e-08	1.47314e-07	0.00178596	1	0
CD2BP2	10421	broad.mit.edu	37	16	30364884	30364884	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:30364884A>C	ENST00000305596.3	-	5	788	c.613T>G	c.(613-615)Ttg>Gtg	p.L205V	CD2BP2_ENST00000569466.1_Missense_Mutation_p.L205V	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	205					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TGGTCGGCCAACCCGGAGAGC	0.657000													10	22					0	0	0.000673444	0	0
PBLD	64081	broad.mit.edu	37	10	70044029	70044029	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:70044029G>C	ENST00000358769.2	-	10	974	c.772C>G	c.(772-774)Cga>Gga	p.R258G	PBLD_ENST00000336578.1_Missense_Mutation_p.R225G|PBLD_ENST00000309049.4_Missense_Mutation_p.R258G	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	258					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCTCCTCGGTGGGAACAC	0.423000													9	67					0	0	0.000274275	0	0
ITGB8	3696	broad.mit.edu	37	7	20421484	20421484	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:20421484C>T	ENST00000222573.3	+	6	1620	c.936C>T	c.(934-936)aaC>aaT	p.N312N	ITGB8_ENST00000537992.1_Silent_p.N177N	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	312	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGAAAAACAACGTCTATGTCA	0.413000													5	52					0	0	0.00116845	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221532	117221532	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:117221532C>A	ENST00000355044.3	+	22	3530	c.3404C>A	c.(3403-3405)gCa>gAa	p.A1135E	ATRNL1_ENST00000423111.2_Missense_Mutation_p.A186E|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1135						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACTTTATAGCAAACCCAGAA	0.318000													5	41					0.000602214	0.00232328	0.000602214	1	0
LY75	4065	broad.mit.edu	37	2	160673380	160673380	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:160673380G>C	ENST00000263636.4	-	30	4344	c.4317C>G	c.(4315-4317)ctC>ctG	p.L1439L	LY75_ENST00000554112.1_Silent_p.L1439L|LY75_ENST00000553424.1_Silent_p.L1439L|LY75-CD302_ENST00000504764.1_Silent_p.L1439L|LY75-CD302_ENST00000505052.1_Silent_p.L1439L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTCCAGAAAGAGCTGGCCAT	0.393000													15	84					0	0	0.00244969	0	0
TAF3	83860	broad.mit.edu	37	10	8007660	8007660	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:8007660G>A	ENST00000344293.5	+	3	2393	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	729	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agaagagagagcgagagaaga	0.383000													3	21					0	0	6.4e-05	0	0
ITFG1	81533	broad.mit.edu	37	16	47196540	47196540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:47196540G>A	ENST00000320640.6	-	15	1717	c.1489C>T	c.(1489-1491)Caa>Taa	p.Q497*	ITFG1_ENST00000544001.2_Nonsense_Mutation_p.Q384*|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	497						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TATGGTAGTTGGAGAGCTAAA	0.393000													19	77					0	0	0.00152264	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058853	81058853	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:81058853C>T	ENST00000334512.5	+	16	2285	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	571					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.G571G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCGGGATGGCGTGGTGCTGG	0.647000													5	48					0	0	0.000602214	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													6	75					0	0	0.00116845	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175777	40175777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:40175777G>T	ENST00000307641.5	+	4	1063	c.442G>T	c.(442-444)Gag>Tag	p.E148*	NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.E186*|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.E148*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.E148*|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.E146*|NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.E92*|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.E148*	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	148	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAAGCTGTGGGAGGTGTCAGT	0.607000													12	64					2.61681e-11	1.10237e-10	0.00244969	1	0
SLC17A6	57084	broad.mit.edu	37	11	22397578	22397578	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:22397578A>G	ENST00000263160.3	+	10	1662	c.1225A>G	c.(1225-1227)Aga>Gga	p.R409G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	409					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTCTCATACTAGAGGGGTAGC	0.383000													32	156					0	0	0.000814825	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387622	3387622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:3387622G>A	ENST00000011898.5	+	4	260	c.99G>A	c.(97-99)tgG>tgA	p.W33*	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Nonsense_Mutation_p.W33*|TSPAN9_ENST00000537971.1_Nonsense_Mutation_p.W33*	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	33						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGGGCATCTGGCTCTCCGTGT	0.577000													38	118					0	0	0.00111076	0	0
TP53BP1	7158	broad.mit.edu	37	15	43762178	43762178	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:43762178C>T	ENST00000263801.3	-	11	1504	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E423K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E423K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E423K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	418					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGGGTTTTCTAACTCCACT	0.483000								Other conserved DNA damage response genes					19	118					0	0	0.000958276	0	0
SRRT	51593	broad.mit.edu	37	7	100485056	100485056	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:100485056G>A	ENST00000388793.4	+	16	2308	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	SRRT_ENST00000432932.1_Silent_p.V696V|SRRT_ENST00000347433.4_Silent_p.V697V|SRRT_ENST00000457580.2_Silent_p.V697V	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	697					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCAGGAAGTGGAGAAGTTCG	0.547000													31	62					0	0	0.00127121	0	0
ALK	238	broad.mit.edu	37	2	29606696	29606696	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:29606696C>T	ENST00000389048.3	-	5	2090	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	395	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTGTCTGGACGCCCGATTCT	0.493000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	103					0	0	0.00136819	0	0
TRBV2	28620	broad.mit.edu	37	7	142000966	142000966	+	RNA	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:142000966G>A	ENST00000455382.2	+	0	132																											AGGACTCACAGAACCTGAAGT	0.433000													11	28					0	0	0.000673444	0	0
WDR52	55779	broad.mit.edu	37	3	113098399	113098399	+	Splice_Site	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:113098399C>G	ENST00000393845.2	-	17	2119		c.e17-1		WDR52_ENST00000295868.2_Splice_Site	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52											breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTATTAATCTCTTTTAAAATA	0.343000													7	61					0	0	0.00198382	0	0
PER3	8863	broad.mit.edu	37	1	7848168	7848168	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:7848168G>T	ENST00000377532.3	+	4	678	c.454G>T	c.(454-456)Gct>Tct	p.A152S	PER3_ENST00000377541.1_Missense_Mutation_p.A152S|PER3_ENST00000361923.2_Missense_Mutation_p.A152S			P56645	PER3_HUMAN	period circadian clock 3	152	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACAGGCTGCTTTGATCCT	0.413000													24	107					2.48779e-11	1.05408e-10	0.000878237	1	0
BCHE	590	broad.mit.edu	37	3	165547586	165547586	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:165547586G>A	ENST00000264381.3	-	2	1402	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	412					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCTCACGGTAGTTTTCAGGTC	0.408000													70	35					0	0	0.000781405	0	0
MYH7	4625	broad.mit.edu	37	14	23902836	23902836	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23902836C>T	ENST00000355349.3	-	3	268	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	36	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGAAGACATCCTTCTTGAGG	0.567000													18	106					0	0	0.00074312	0	0
DNAH11	8701	broad.mit.edu	37	7	21639716	21639716	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21639716C>T	ENST00000328843.6	+	15	3010	c.2979C>T	c.(2977-2979)caC>caT	p.H993H	DNAH11_ENST00000409508.3_Silent_p.H993H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	993	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGCAACACACCTGGAAATTA	0.358000									Kartagener syndrome				5	61					0	0	0.000602214	0	0
FOXC2	2303	broad.mit.edu	37	16	86600960	86600960	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:86600960G>A	ENST00000320354.4	+	1	104	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCGCTACTCCGTGTCCGACCC	0.721000									Late-onset Hereditary Lymphedema				15	55					0	0	0.00074312	0	0
ITSN2	50618	broad.mit.edu	37	2	24432884	24432884	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24432884G>C	ENST00000355123.4	-	35	4719	c.4276C>G	c.(4276-4278)Ctc>Gtc	p.L1426V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L1399V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1426					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTGGTGAGAGAGTTGAAA	0.478000													32	106					0	0	0.00178596	0	0
TSPEAR	54084	broad.mit.edu	37	21	45919706	45919706	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr21:45919706T>A	ENST00000323084.4	-	12	2035	c.1970A>T	c.(1969-1971)aAg>aTg	p.K657M		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	657					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGGGGCTCCTTGGCGCTGGA	0.716000													3	6					0	0	6.4e-05	0	0
OR56A4	120793	broad.mit.edu	37	11	6024283	6024283	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:6024283G>A	ENST00000330728.4	-	1	141	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAGTACAGAAACATAAAA	0.433000													12	45					0	0	0.000978159	0	0
TP53	7157	broad.mit.edu	37	17	7579369	7579369	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:7579369G>C	ENST00000420246.2	-	4	450	c.318C>G	c.(316-318)agC>agG	p.S106R	TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000269305.4_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R|TP53_ENST00000445888.2_Missense_Mutation_p.S106R|TP53_ENST00000359597.4_Missense_Mutation_p.S106R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	106	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(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)		GGAAACCGTAGCTGCCCTGGT	0.617000		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)			42	29					0	0	0.00195071	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703916	52703916	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:52703916A>T	ENST00000287727.3	+	4	999	c.827A>T	c.(826-828)gAt>gTt	p.D276V	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D276V|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D276V|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D276V	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	276					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CAGGGAACAGATGGATGTCCT	0.443000													40	194					0	0	0.00195071	0	0
SLC7A8	23428	broad.mit.edu	37	14	23608670	23608670	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23608670G>A	ENST00000316902.7	-	6	1600	c.875C>T	c.(874-876)tCc>tTc	p.S292F	SLC7A8_ENST00000453702.1_Missense_Mutation_p.S89F|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Missense_Mutation_p.S68F|SLC7A8_ENST00000529705.2_Missense_Mutation_p.S187F|SLC7A8_ENST00000532568.1_5'UTR	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	292					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTCCTGGGGGGACATTGCAGT	0.517000													19	130					0	0	0.00152264	0	0
NXPH1	30010	broad.mit.edu	37	7	8791329	8791329	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:8791329A>G	ENST00000405863.1	+	3	1657	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	NXPH1_ENST00000602349.1_Missense_Mutation_p.Y132C|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	249	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTACAGATTATAAACTGGTA	0.448000													7	20					0	0	0.000274275	0	0
GGA3	23163	broad.mit.edu	37	17	73235980	73235980	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:73235980G>A	ENST00000245541.6	-	13	1689	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	GGA3_ENST00000578348.1_Silent_p.A369A|GGA3_ENST00000351904.7_Silent_p.A458A|GGA3_ENST00000582717.1_Silent_p.A419A|GGA3_ENST00000538886.1_Silent_p.A369A|GGA3_ENST00000582486.1_Silent_p.A419A	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	491	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTGGGGCCAAGGCTGGGGCCA	0.637000													5	33					0	0	0.000602214	0	0
RBM15	64783	broad.mit.edu	37	1	110882111	110882111	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:110882111G>A	ENST00000369784.3	+	1	984	c.84G>A	c.(82-84)ggG>ggA	p.G28G	RBM15_ENST00000602849.1_Silent_p.G28G|RBM15_ENST00000487146.2_Silent_p.G28G	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	28					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGAGCGCGGGGCGGCGGGTTA	0.662000			T	MKL1	acute megakaryocytic leukemia								6	22					0	0	0.00116845	0	0
GALNT3	2591	broad.mit.edu	37	2	166621528	166621528	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:166621528G>A	ENST00000392701.3	-	3	1329	c.554C>T	c.(553-555)cCc>cTc	p.P185L		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	185	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ACTGGTGGTGGGCAGGGGAGG	0.383000													27	25					0	0	0.000720815	0	0
CNTN5	53942	broad.mit.edu	37	11	100169983	100169983	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:100169983G>T	ENST00000524871.1	+	20	2765	c.2475G>T	c.(2473-2475)atG>atT	p.M825I	CNTN5_ENST00000418526.2_Missense_Mutation_p.M751I|CNTN5_ENST00000528682.1_Missense_Mutation_p.M825I|CNTN5_ENST00000279463.3_Missense_Mutation_p.M825I|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.M825I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	825	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGGAAAAAATGGTGACATCCT	0.423000													7	31					8.12818e-05	0.000318607	0.00198382	1	0
HSPA1L	3305	broad.mit.edu	37	6	31778361	31778361	+	Silent	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:31778361C>G	ENST00000375654.4	-	2	1578	c.1389G>C	c.(1387-1389)ctG>ctC	p.L463L	HSPA1L_ENST00000417199.3_Silent_p.L463L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	463					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTCCAGTCAGGTCAAACC	0.552000													34	100					0	0	0.0024448	0	0
TMEM168	64418	broad.mit.edu	37	7	112407527	112407527	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:112407527C>T	ENST00000312814.5	-	5	2379	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	TMEM168_ENST00000454074.1_Missense_Mutation_p.E607K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	607						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CGTCCCTTTTCAGTCCAGCAG	0.463000													8	58					0	0	0.000274275	0	0
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154962050delA	ENST00000368433.1	+	3	1475	c.1132delA	c.(1132-1134)aafs	p.K379fs	FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000292180.3_Frame_Shift_Del_p.K379fs|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	379					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567													7	167	---	---	---	---					
MR1	3140	broad.mit.edu	37	1	181021478	181021478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:181021478delA	ENST00000367580.5	+	4	717	c.712delA	c.(712-714)aafs	p.K238fs	MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Frame_Shift_Del_p.K193fs|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GACATGGATGAAAAACGGGGA	0.443													8	60	---	---	---	---					
ATP11B	23200	broad.mit.edu	37	3	182575744	182575745	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:182575744_182575745insT	ENST00000323116.5	+	11	1190_1191	c.930_931insT	c.(928-933)acggcafs	p.A311fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	311					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGAAGTATACATGGCAAGCTGA	0.312													23	79	---	---	---	---					
CTB-57H20.1	0	broad.mit.edu	37	5	143043713	143043713	+	RNA	DEL	A	A	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:143043713delA	ENST00000503323.1	+	0	167																											ctaattagggaaaaggagtca	0.463													2	4	---	---	---	---					
DST	667	broad.mit.edu	37	6	56426298	56426313	+	Frame_Shift_Del	DEL	TTCATAACCATGACTT	TTCATAACCATGACTT	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:56426298_56426313delTTCATAACCATGACTT	ENST00000370754.5	-	57	14009_14024	c.14010_14025delAAGTCATGGTTATGAA	c.(14008-14025)atfs	p.ISHGYE4670fs	DST_ENST00000446842.2_Frame_Shift_Del_p.ISHGYE4166fs|DST_ENST00000421834.2_Frame_Shift_Del_p.ISHGYE2404fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Frame_Shift_Del_p.ISHGYE4492fs|DST_ENST00000370788.2_Frame_Shift_Del_p.ISHGYE2404fs|DST_ENST00000361203.3_Frame_Shift_Del_p.ISHGYE4490fs|DST_ENST00000244364.6_Frame_Shift_Del_p.ISHGYE2078fs			Q03001	DYST_HUMAN	dystonin	4490					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCAAGATCTTCATAACCATGACTTATGTCAGTCA	0.384													10	90	---	---	---	---					
CEP164	22897	broad.mit.edu	37	11	117266774	117266780	+	Frame_Shift_Del	DEL	CTGGAGG	CTGGAGG	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:117266774_117266780delCTGGAGG	ENST00000278935.3	+	25	3241_3247	c.3094_3100delCTGGAGG	c.(3094-3102)ctfs	p.LEA1032fs	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1032					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		CCACAGCAGCCTGGAGGCTGAAGCTCA	0.546													17	75	---	---	---	---					
KRT14	3861	broad.mit.edu	37	17	39742774	39742785	+	In_Frame_Del	DEL	CAAAGCCACCAC	CAAAGCCACCAC	-	rs57278315		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39742774_39742785delCAAAGCCACCAC	ENST00000167586.6	-	1	388_399	c.302_313delGTGGTGGCTTTG	c.(301-315)gct>g	p.GGGFA101del		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	101	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				tcaccaccagcaaagccaccaccaaagccacc	0.604													12	91	---	---	---	---