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
APOB	338	broad.mit.edu	37	2	21263858	21263858	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:21263858A>C	ENST00000233242.1	-	4	462	c.335T>G	c.(334-336)tTg>tGg	p.L112W	APOB_ENST00000399256.4_Missense_Mutation_p.L112W	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	112	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCTTCAGCAAGGCTTTGCC	0.527000													5	18					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33933502	33933502	+	Silent	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:33933502G>A	ENST00000379238.1	-	18	2211	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	UBAP2_ENST00000449054.1_Silent_p.L698L|UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000418786.2_Silent_p.L645L			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	698										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TAAGCTGAGAGAGAGGGCTGC	0.592000													7	20					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639254	149639254	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:149639254A>G	ENST00000370401.2	+	4	1719	c.1409A>G	c.(1408-1410)cAg>cGg	p.Q470R	MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	470					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTTGCCACAGCAGTCCTTC	0.592000													13	107					0	0	1	0	0
PCDHB3	0	broad.mit.edu	37	5	140481350	140481350	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:140481350C>G	ENST00000231130.2	+	1	1117	c.1117C>G	c.(1117-1119)Cta>Gta	p.L373V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		373	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCTGATCTAGACTCTGG	0.458000													11	42					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54573643	54573643	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:54573643C>T	ENST00000064571.2	-	3	1876	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	192	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGCCAGAAAACGTGGAATACT	0.443000													15	90					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129784846	129784846	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr11:129784846G>A	ENST00000358825.5	-	18	2837	c.2606C>T	c.(2605-2607)aCa>aTa	p.T869I	PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I|PRDM10_ENST00000360871.3_Missense_Mutation_p.T865I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	869	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGTCAGTGGTGTGTGTATGGT	0.512000													42	71					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47219549	47219549	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:47219549C>T	ENST00000433867.1	-	2	556	c.79G>A	c.(79-81)Gag>Aag	p.E27K	PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000291281.4_Missense_Mutation_p.E27K|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	27					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GACTGCAGCTCTAGGCCGCCG	0.741000													4	30					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324409	24324409	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:24324409C>A	ENST00000175238.6	+	6	570	c.487C>A	c.(487-489)Ccg>Acg	p.P163T	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	163					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCTGAGGGTGCCGTATGGTGC	0.393000													4	113					1	1	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92734114	92734114	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:92734114C>T	ENST00000379958.2	-	3	1566	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	433						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTTAATTTCCTTCAGGAAA	0.353000													17	17					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	78					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94041967	94041967	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:94041967T>C	ENST00000297268.6	+	25	1947	c.1476T>C	c.(1474-1476)atT>atC	p.I492I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	492					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCAACATTGGATTCCCTG	0.498000										HNSCC(75;0.22)			5	27					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20215787	20215787	+	Silent	SNP	T	T	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:20215787T>A	ENST00000412997.1	-	6	1587	c.1236A>T	c.(1234-1236)acA>acT	p.T412T	SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Silent_p.T412T|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	412					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CTTTTTCATCTGTGTATTTCA	0.403000													21	100					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101119	27101119	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:27101119C>T	ENST00000324856.7	+	18	4772	c.4401C>T	c.(4399-4401)ccC>ccT	p.P1467P	ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1467					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCTGCACCCCCTGGCACCA	0.612000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	79					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901729	52901729	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:52901729T>C	ENST00000261844.7	-	6	1534	c.1382A>G	c.(1381-1383)gAc>gGc	p.D461G	FAM214A_ENST00000546305.2_Missense_Mutation_p.D468G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	461																	AGAATAAAAGTCATTAGAAAT	0.413000													9	68					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338418	122338418	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:122338418G>C	ENST00000340112.2	-	1	792	c.555C>G	c.(553-555)atC>atG	p.I185M	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	185						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GATTCATCCAGATGATGTGCT	0.373000													27	122					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10107547	10107547	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10107547G>A	ENST00000380861.4	+	22	3570	c.3179G>A	c.(3178-3180)aGc>aAc	p.S1060N	WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1060										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGTGGGCAGAGCCACAAAGAG	0.582000													16	73					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24890933	24890933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:24890933G>A	ENST00000396432.2	-	13	3307	c.2821C>T	c.(2821-2823)Cga>Tga	p.R941*	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	940	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACAAGGGGTCGGAAATGAAGC	0.478000													39	29					0	0	1	0	0
MSRA	4482	broad.mit.edu	37	8	9912035	9912035	+	Silent	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:9912035G>C	ENST00000317173.4	+	1	258	c.9G>C	c.(7-9)tcG>tcC	p.S3S	MSRA_ENST00000518255.1_Silent_p.S3S|MSRA_ENST00000441698.2_Silent_p.S3S	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	3					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCATGCTCTCGGCCACCCGGA	0.726000													3	38					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	93					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41575698	41575698	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:41575698C>T	ENST00000396942.1	-	11	1215	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	ANK1_ENST00000396945.1_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000289734.7_Missense_Mutation_p.A378T|ANK1_ENST00000347528.4_Missense_Mutation_p.A378T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	378	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTTTGCAGGCGATGTGTAAG	0.592000													4	63					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100374723	100374723	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:100374723G>A	ENST00000370552.3	-	9	1317	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	420					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AATGAGTGCCGTATCACGACA	0.398000													13	78					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													3	37					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271196	140271196	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140271196T>C	ENST00000370526.2	-	1	114	c.11A>G	c.(10-12)gAg>gGg	p.E4G	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	4					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGCACCAACTCATCCACCAT	0.662000													5	18					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927680	23927680	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:23927680T>C	ENST00000402377.3	-	4	813	c.672A>G	c.(670-672)aaA>aaG	p.K224K	ZNF681_ENST00000395385.3_Silent_p.K155K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	224				K -> R (in Ref. 1; BAG53769).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATGTACGATTTCTCTCCAA	0.328000													9	15					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17056281	17056281	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:17056281C>T	ENST00000418129.2	+	3	2983	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C|PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	966	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTGTCTCCCCGCTTTCTGGG	0.537000													26	140					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10786670	10786670	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:10786670T>C	ENST00000075503.3	-	4	626	c.106A>G	c.(106-108)Atc>Gtc	p.I36V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	36						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATGAGGAAGATAGTAACCAAC	0.453000										HNSCC(73;0.22)			83	123					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24793576	24793576	+	Silent	SNP	C	C	T	rs141339113		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000554068.2_Silent_p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567000													11	63					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	24995135	24995135	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:24995135G>A	ENST00000261192.7	-	7	1224	c.698C>T	c.(697-699)gCc>gTc	p.A233V	BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	233					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TTCACATTGGGCAAAAAGAGA	0.433000													3	39					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468117	61468117	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:61468117C>T	ENST00000398019.2	+	7	940	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SERPINB7_ENST00000546027.1_Silent_p.V205V|SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	205					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAAGGCAGTCGCCATGATGC	0.368000													14	78					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97051578	97051578	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:97051578T>C	ENST00000326771.2	+	3	469	c.89T>C	c.(88-90)gTt>gCt	p.V30A	FHL5_ENST00000541107.1_Missense_Mutation_p.V30A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	30						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCATACTGTGTTACATGTTAT	0.353000													3	73					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78055796	78055796	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:78055796A>G	ENST00000397545.4	+	12	1955	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	643					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATGACCTCCAACAAGACCACC	0.612000													5	35					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21964706	21964706	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:21964706A>G	ENST00000405508.1	+	10	2084	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	TOX4_ENST00000448790.2_Missense_Mutation_p.D580G|TOX4_ENST00000262709.3_Missense_Mutation_p.D603G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	603						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCTTAGGGATGTATTCTTG	0.393000													6	77					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								21	41					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323245	57323245	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:57323245C>T	ENST00000293502.1	-	3	796	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	218						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTTCGCATGCGTGACTCCAG	0.557000													25	63					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116276827	116276827	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:116276827G>A	ENST00000374140.2	+	16	1776	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	523					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGGGCCACGGGAACTACCA	0.572000													9	63					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558563	113558563	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:113558563T>C	ENST00000284601.3	-	1	557	c.489A>G	c.(487-489)ttA>ttG	p.L163L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	163	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCCAGTCATCTAAAGACATTC	0.358000													11	38					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53412741	53412741	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:53412741C>T	ENST00000262056.9	+	3	637	c.311C>T	c.(310-312)cCc>cTc	p.P104L	RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	104	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAACCTACCCTATGATGTT	0.423000													8	48					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999831	72999831	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:72999831C>T	ENST00000322038.5	+	2	2918	c.2334C>T	c.(2332-2334)agC>agT	p.S778S	TSHZ1_ENST00000580243.1_Silent_p.S823S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	823						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGTGTCCAGCGTGGCTGATT	0.572000													4	80					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138667250	138667250	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:138667250C>T	ENST00000298480.5	+	20	2412	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W|KCNT1_ENST00000263604.3_Missense_Mutation_p.R761W			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	780						membrane	binding|calcium-activated potassium channel activity	p.R780R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCTGCCTGCGGCTGGACAA	0.642000													6	64					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129190022	129190022	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:129190022T>C	ENST00000540052.1	+	12	5091	c.5047T>C	c.(5047-5049)Tcc>Ccc	p.S1683P	BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1683P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1683					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCCCCAGGCTCCTCTGAGAC	0.617000													8	95					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594964	55594964	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:55594964G>A	ENST00000586329.1	+	10	1557	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R132Q|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000201647.6_Intron			Q8TE68	ES8L1_HUMAN	EPS8-like 1	452						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGCCTGACCCGACTGTCTTAC	0.716000													3	3					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622000		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)			43	18					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771700	143771700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:143771700C>T	ENST00000408898.2	+	1	426	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCACCCTCTCCGATATTCTAC	0.463000													40	93					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98256572	98256572	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642000													4	54					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	7					0	0	1	0	0
MID1	0	broad.mit.edu	37	X	10442675	10442675	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10442675C>G	ENST00000317552.4	-	6	1529	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H|MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	377	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTAAGGTAATCCAGACATTCT	0.383000													29	50					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154567848	154567848	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:154567848G>A	ENST00000337049.4	+	4	1236	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	IPCEF1_ENST00000367220.4_Silent_p.G41G|IPCEF1_ENST00000519344.1_Silent_p.G12G|IPCEF1_ENST00000265198.4_Silent_p.G40G|IPCEF1_ENST00000422970.2_Silent_p.G41G	NM_001008503.1	NP_001008503.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	0					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AGTCAGCATGGCCCAGATCTT	0.433000													34	55					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110497569	110497569	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:110497569C>T	ENST00000324068.1	-	3	395	c.228G>A	c.(226-228)ggG>ggA	p.G76G	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	76	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCCCCAGTCTCCCTTGGGTCA	0.468000													17	88					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552268	100552268	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:100552268T>C	ENST00000319509.7	+	1	1019	c.1019T>C	c.(1018-1020)gTt>gCt	p.V340A						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GATCCATGTGTTGAAATGGAT	0.478000													87	296					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:248436203G>A	ENST00000318021.2	-	1	935	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTTTACACACGTCCCCAGCCA	0.423000													75	102					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238675	179238675	+	Missense_Mutation	SNP	G	G	A	rs149806664		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:179238675G>A	ENST00000190611.4	+	15	1830	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	485					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AATGAGAGCCGCCTCTCCATG	0.483000													10	46					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77663122	77663122	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr13:77663122G>A	ENST00000407578.2	-	61	10836	c.10570C>T	c.(10570-10572)Cgg>Tgg	p.R3524W	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3486W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGATTAGCCGAGAAAGCTCA	0.363000													8	67					0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335727	140335727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140335727G>A	ENST00000358993.2	-	2	255	c.217C>T	c.(217-219)Cga>Tga	p.R73*		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	73						cytoplasm|nucleus		p.R73R(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTGTTCTCTCGGGCGTGGTCA	0.443000													33	93					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55221934	55221934	+	RNA	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:55221934C>A	ENST00000413439.1	+	0	1461																											CCGGGCCCCACGGTGGCCTCA	0.637000													3	33					0.00909568	0.00919455	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53694205	53694205	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:53694205C>T	ENST00000288139.3	+	5	787	c.669C>T	c.(667-669)ggC>ggT	p.G223G	CACNA1D_ENST00000350061.5_Silent_p.G223G|CACNA1D_ENST00000422281.2_Silent_p.G223G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	223					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACAGAAGGCGGGAACCACT	0.458000													17	31					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22379553	22379553	+	Translation_Start_Site	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:22379553T>C	ENST00000397121.2	-	0	200					NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAAACACATATATTTACCAAT	0.408000													9	76					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160182	132160182	+	Silent	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:132160182A>G	ENST00000511190.1	-	6	2536	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	USP26_ENST00000370832.1_Silent_p.F689F|USP26_ENST00000406273.1_Silent_p.F689F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	689					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCACTGTTTGAAAGTCAACTT	0.398000													26	72					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117681518	117681518	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:117681518C>A	ENST00000368508.3	-	22	3630	c.3432G>T	c.(3430-3432)aaG>aaT	p.K1144N	ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1144	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGTTGTAGACTTTACAACGT	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								3	34					0.004672	0.00477468	1	1	0
SETDB1	9869	broad.mit.edu	37	1	150933218	150933218	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:150933218G>A	ENST00000271640.5	+	16	2870	c.2680G>A	c.(2680-2682)Ggt>Agt	p.G894S	SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	894	SET.				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)			TGGCAACAGCGGTACAGAGGA	0.502000													3	66					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285784	223285784	+	Missense_Mutation	SNP	G	G	A	rs146146738		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:223285784G>A	ENST00000540964.1	-	4	1051	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TLR5_ENST00000342210.6_Missense_Mutation_p.T197M			O60602	TLR5_HUMAN	toll-like receptor 5	197					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGGAGAGCGTTTTCCCTTG	0.428000													10	42					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493378	71493378	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:71493378G>A	ENST00000296755.7	+	5	4494	c.4196G>A	c.(4195-4197)cGc>cAc	p.R1399H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1399						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCTTTACGCAGCCCGCCC	0.478000													4	57					0	0	1	0	0
ANXA2	302	broad.mit.edu	37	15	60644017	60644017	+	Splice_Site	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:60644017T>C	ENST00000396024.3	-	11	843	c.682_splice	c.e11-1	p.V228_splice	ANXA2_ENST00000451270.2_Splice_Site_p.V228_splice|ANXA2_ENST00000421017.2_Splice_Site_p.V228_splice|ANXA2_ENST00000332680.4_Splice_Site_p.V246_splice	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	228					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ACCTATCAAATACTGAGGAAA	0.388000													6	68					0	0	1	0	0
SPAM1	0	broad.mit.edu	37	7	123594538	123594538	+	Missense_Mutation	SNP	G	G	A	rs150235912	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:123594538G>A	ENST00000340011.5	+	3	1271	c.914G>A	c.(913-915)cGc>cAc	p.R305H	SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000439500.1_Missense_Mutation_p.R305H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	305					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GCATATACCCGCATAGTTTTT	0.388000													4	41					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64947733	64947733	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:64947733A>G	ENST00000360270.5	+	3	326	c.154A>G	c.(154-156)Act>Gct	p.T52A		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	52	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GTACCAGGACACTAAAGGTTT	0.403000			T	ALK	ALCL								22	25					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29074043	29074043	+	Nonsense_Mutation	SNP	C	C	A	rs147013173		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:29074043C>A	ENST00000306108.5	-	5	1230	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	403							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GCTAAAATTCCATTTTTCTGT	0.363000													17	32					4.75885e-15	5.08705e-15	1	1	0
ALOX15	246	broad.mit.edu	37	17	4534928	4534928	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:4534928C>T	ENST00000570836.1	-	15	2052	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	ALOX15_ENST00000293761.3_Silent_p.R652R|ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000545513.1_Silent_p.R674R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	652	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCACGCTGGGCCGCAGGTACT	0.552000													17	92					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102510228	102510228	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:102510228C>T	ENST00000360184.4	+	70	12694	c.12530C>T	c.(12529-12531)gCc>gTc	p.A4177V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4177	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AACGAGCGTGCCCGCTTGTAC	0.507000													3	50					0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31796608	31796608	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:31796608G>T	ENST00000331457.4	+	2	206	c.45G>T	c.(43-45)atG>atT	p.M15I	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	15					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCTTTTAGATGGCTCGGACTC	0.468000													4	55					2.56e-06	2.64533e-06	1	1	0
AC011537.3	0	broad.mit.edu	37	19	15871633	15871633	+	RNA	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:15871633C>T	ENST00000595525.1	+	0	449				CYP4F24P_ENST00000587443.2_RNA																							ACCTGGGTCCCGCAGAGAAGG	0.552000													6	90					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104030019	104030019	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr4:104030019G>C	ENST00000265148.3	-	48	8041	c.7952C>G	c.(7951-7953)tCt>tGt	p.S2651C	CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2651	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.S2614Y(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGATGGTAAAGACTTTGATCG	0.378000													9	74					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44514963	44514963	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:44514963A>G	ENST00000338758.6	+	4	382	c.319A>G	c.(319-321)Att>Gtt	p.I107V	PARVB_ENST00000406477.3_Missense_Mutation_p.I140V|PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000402876.3_Missense_Mutation_p.I107V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	107	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGAGAGGATCATTGTGAAGCA	0.592000													19	30					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95111508	95111508	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:95111508C>T	ENST00000371501.4	-	33	3699	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N			Q9NZM1	MYOF_HUMAN	myoferlin	1193	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAACTTCATCGAATATAATT	0.413000													10	41					0	0	1	0	0
AC005562.1	0	broad.mit.edu	37	17	28960294	28960294	+	RNA	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:28960294C>T	ENST00000417404.1	+	0	1155				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							AGCTTCTCAGCGAGCAGCAGG	0.433000													21	28					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131020288	131020288	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:131020288C>T	ENST00000421699.2	-	22	2410	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	800						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTGCAGGGCCCGGTGGGTC	0.677000													8	36					0	0	1	0	0
SRXN1	140809	broad.mit.edu	37	20	629365	629365	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:629365A>C	ENST00000381962.3	-	2	591	c.407T>G	c.(406-408)tTg>tGg	p.L136W	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	136					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTACTGCAAGTCTGGTGT	0.612000													9	134					0	0	1	0	0
SNHG12	0	broad.mit.edu	37	1	28906819	28906821	+	RNA	DEL	CAA	CAA	-	rs147786269		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:28906819_28906821delCAA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA																							gactccgtctcaaaaaaaaaaaa	0.493													3	5	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145103950	145103950	+	RNA	DEL	C	C	-			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:145103950delC	ENST00000453618.1	+	0	445							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GGCTAAGTAACTCTTTCGAAA	0.393													7	21	---	---	---	---					
SERAC1	84947	broad.mit.edu	37	6	158576366	158576366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:158576366delT	ENST00000367102.2	-	3	250	c.109delA	c.(109-111)ctfs	p.T37fs	SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367104.3_Frame_Shift_Del_p.T37fs			Q96JX3	SRAC1_HUMAN	serine active site containing 1	37					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGTGATCCAGTAAACTTTATT	0.318													2	4	---	---	---	---					
