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
YIF1A	10897	broad.mit.edu	37	11	66055104	66055104	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:66055104C>T	ENST00000376901.4	-	4	576	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	YIF1A_ENST00000359461.6_Missense_Mutation_p.R131Q|YIF1A_ENST00000471387.2_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAG	0.622000													7	18					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28436193	28436193	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:28436193G>A	ENST00000261609.7	-	55	8675	c.8567C>T	c.(8566-8568)tCc>tTc	p.S2856F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2856	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTATTCAGGGAATTTCCACC	0.368000													5	29					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138942	126138942	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:126138942G>A	ENST00000299308.3	+	9	2931	c.2923G>A	c.(2923-2925)Ggc>Agc	p.G975S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G487S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	975						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GATAGACAGGGGCCTGCAGTT	0.483000													8	20					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543900	46543900	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:46543900G>A	ENST00000242848.4	-	14	3127	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	ZC3H13_ENST00000282007.3_Silent_p.L927L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	927							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAGCTTTCCAGGATTTCTGTC	0.433000													19	134					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44218815	44218815	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:44218815A>T	ENST00000371554.1	+	7	1202	c.988A>T	c.(988-990)Agg>Tgg	p.R330W	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R330W|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R330W			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	330					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTGGAATTCAGGGCATTGCT	0.393000													18	92					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66478837	66478837	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:66478837A>T	ENST00000256447.4	-	3	1991	c.1834T>A	c.(1834-1836)Tct>Act	p.S612T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	612	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CCCCTTAGAGATGGCGGGTTT	0.428000													25	89					0	0	1	0	0
RAB30	27314	broad.mit.edu	37	11	82698775	82698775	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:82698775C>T	ENST00000533486.1	-	5	499	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	RAB30_ENST00000532548.1_Missense_Mutation_p.R72Q|RAB30_ENST00000527633.1_Missense_Mutation_p.R72Q|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Missense_Mutation_p.R44Q|RAB30_ENST00000534141.1_Missense_Mutation_p.R72Q|RAB30_ENST00000260056.2_Missense_Mutation_p.R72Q	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	72					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGTAATGGACCGAAATCTCTC	0.463000													11	60					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140161696	140161696	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:140161696C>T	ENST00000343053.4	+	10	1580	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GCGCAGGTTTCTGCAGGAGCA	0.701000													11	27					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38994972	38994972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:38994972G>A	ENST00000355481.4	+	50	8170	c.8039G>A	c.(8038-8040)tGg>tAg	p.W2680*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.W2680*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.W2680*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2680	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAACTCTTCTGGGGCATCTTT	0.582000													13	25					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777489	43777489	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:43777489C>T	ENST00000389420.3	-	31	4668	c.4669G>A	c.(4669-4671)Gag>Aag	p.E1557K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1557	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTGTGCACTCCATTCGTTGA	0.338000													4	14					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9413102	9413102	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9413102G>A	ENST00000591998.1	-	3	355	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	ZNF699_ENST00000308650.3_Missense_Mutation_p.L43F			Q32M78	ZN699_HUMAN	zinc finger protein 699	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTCTGTAGAGGTTTCTCTGA	0.423000													24	52					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500219	71500219	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:71500219A>C	ENST00000396073.3	+	6	686	c.405A>C	c.(403-405)caA>caC	p.Q135H		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	135					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCCACCACAAAAGCGGCCTT	0.483000													9	33					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187540610	187540610	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:187540610C>T	ENST00000261023.3	+	28	3158	c.2884C>T	c.(2884-2886)Cct>Tct	p.P962S	ITGAV_ENST00000374907.3_Missense_Mutation_p.P926S|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.P916S	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	962					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CATAGAGTTTCCTTATAAGAA	0.318000													5	31					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962836	55962836	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:55962836G>A	ENST00000577830.1	-	2	503	c.90C>T	c.(88-90)ccC>ccT	p.P30P	CUEDC1_ENST00000407144.2_Silent_p.P30P|CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000360238.2_Silent_p.P30P	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	30										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGAGCTCCTggggggcggccg	0.706000													10	25					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91163358	91163358	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:91163358C>T	ENST00000546318.1	+	2	2520	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.L442L	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	442					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTTGAGCCTCCTTGGGTTCG	0.428000													13	30					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35561051	35561051	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:35561051C>T	ENST00000455600.1	+	11	4875	c.4306C>T	c.(4306-4308)Ctg>Ttg	p.L1436L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1436						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAAGGAGAGCCTGCAGGAGCC	0.662000													8	25					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173883428	173883428	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:173883428C>T	ENST00000264111.6	+	22	2237	c.2050C>T	c.(2050-2052)Cgg>Tgg	p.R684W	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R532W|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R514W|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R685W|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R541W|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R685W|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R532W|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R465W			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	685					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CACAACCATTCGGGTGCCAGT	0.483000													14	74					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92161850	92161850	+	Silent	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:92161850T>C	ENST00000481551.1	+	3	476	c.435T>C	c.(433-435)acT>acC	p.T145T	RBM48_ENST00000265732.5_Silent_p.T145T			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	145							nucleotide binding										TAGTAAAAACTACTGAAAATA	0.408000													7	30					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92498153	92498153	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92498153C>T	ENST00000298047.6	+	5	4110	c.4093C>T	c.(4093-4095)Ccg>Tcg	p.P1365S	FAT3_ENST00000409404.2_Missense_Mutation_p.P1365S|FAT3_ENST00000525166.1_Missense_Mutation_p.P1215S|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1365	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTCGATGAGCCGTTTTATAA	0.493000										TCGA Ovarian(4;0.039)			12	43					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454320	48454320	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:48454320C>T	ENST00000358536.4	-	25	4954	c.4685G>A	c.(4684-4686)gGc>gAc	p.G1562D	PLXNB1_ENST00000296440.6_Missense_Mutation_p.G1562D|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G1379D|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G1379D|PLXNB1_ENST00000448774.2_Missense_Mutation_p.G173D	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1562					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGGGGATGCCGCTGCCCAG	0.582000													4	61					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401178	89401178	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89401178G>A	ENST00000439576.2	+	12	5736	c.5362G>A	c.(5362-5364)Gaa>Aaa	p.E1788K	ACAN_ENST00000352105.7_Missense_Mutation_p.E1788K|ACAN_ENST00000561243.1_Missense_Mutation_p.E1788K|ACAN_ENST00000559004.1_Missense_Mutation_p.E1788K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1788					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGAGTGGAGAAACATCTGG	0.532000													9	38					0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38977332	38977332	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:38977332G>A	ENST00000313117.6	-	2	270	c.33C>T	c.(31-33)acC>acT	p.T11T	SRSF7_ENST00000409276.1_Silent_p.T11T|SRSF7_ENST00000446327.2_Silent_p.T11T	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	11	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CATACACCTTGGTTTCTGTTT	0.413000													18	70					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85665966	85665966	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:85665966C>T	ENST00000341460.5	-	1	763	c.714G>A	c.(712-714)tcG>tcA	p.S238S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	238					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTGGAGGCACCGACAGGACAC	0.547000													18	69					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116406784	116406784	+	Silent	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:116406784A>C	ENST00000281928.3	-	28	6392	c.6186T>G	c.(6184-6186)ccT>ccG	p.P2062P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2062					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAATTCCAGAAGGAGAGCCTG	0.463000													6	45					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40665947	40665947	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:40665947C>T	ENST00000343619.4	+	20	2322	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	ATP6V0A1_ENST00000585525.1_Silent_p.S690S|ATP6V0A1_ENST00000546249.1_Silent_p.S733S|ATP6V0A1_ENST00000544137.1_Silent_p.S379S|ATP6V0A1_ENST00000537728.1_Silent_p.S684S|ATP6V0A1_ENST00000393829.2_Silent_p.S727S|ATP6V0A1_ENST00000264649.6_Silent_p.S734S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	733					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCTGCATCTCCAACACTGCCT	0.592000													35	128					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444847	234444847	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:234444847G>A	ENST00000366618.3	+	4	754	c.608_splice	c.e4-1	p.R203_splice	SLC35F3_ENST00000366617.3_Splice_Site_p.R134_splice	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	134					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTTGTTTTAGGGAATGCTGTC	0.373000													5	34					0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73100984	73100984	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:73100984C>T	ENST00000423166.2	+	3	221	c.174C>T	c.(172-174)atC>atT	p.I58I	WBSCR22_ENST00000265758.2_Silent_p.I35I|WBSCR22_ENST00000423497.1_Silent_p.I35I|WBSCR22_ENST00000464615.1_3'UTR			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	35						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGATTGATATCCAGACCAGGA	0.473000													46	148					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51464835	51464835	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:51464835C>T	ENST00000374095.5	-	7	1746	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	541	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATCCACCGTTCCTTCTCTTCC	0.572000													17	54					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193597	68193597	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:68193597C>T	ENST00000294304.7	+	16	3685	c.3579C>T	c.(3577-3579)ggC>ggT	p.G1193G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1193	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATCCAGGGCCGTGTCGCCC	0.622000													30	74					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51196695	51196695	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:51196695G>A	ENST00000266037.9	+	11	872	c.849G>A	c.(847-849)atG>atA	p.M283I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	283						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAAGATATGAAGAGAGATT	0.353000													6	44					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	980798	980798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:980798C>T	ENST00000379370.2	+	14	2481	c.2431C>T	c.(2431-2433)Cag>Tag	p.Q811*		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	811	Laminin EGF-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGCCACAGGCCAGTGCTCCTG	0.667000													6	33					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235093	57235093	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:57235093G>A	ENST00000335099.3	+	2	360	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.A15T|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.A15T	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	15					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCCGCCTCGGCCTGCCTCCT	0.687000													40	127					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25599758	25599758	+	Missense_Mutation	SNP	C	C	T	rs141617094		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:25599758C>T	ENST00000215855.2	+	4	303	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CRYBB3_ENST00000404334.1_Missense_Mutation_p.R75C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	75	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						CAGGGCCTTCCGCGGGGAGCA	0.572000													18	137					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57552264	57552264	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:57552264C>T	ENST00000243077.3	+	11	2107	c.1641C>T	c.(1639-1641)gtC>gtT	p.V547V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	547					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCCAAGGTCCCGGATGAGC	0.602000													13	23					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704684	109704684	+	Missense_Mutation	SNP	C	C	T	rs45520342		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:109704684C>T	ENST00000356711.2	+	25	2969	c.2843C>T	c.(2842-2844)tCg>tTg	p.S948L	MYO16_ENST00000457511.2_Missense_Mutation_p.S460L|MYO16_ENST00000357550.2_Missense_Mutation_p.S948L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	948	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.S948*(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTGTTCCAGTCGAAATTGTCA	0.363000													11	57					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54371833	54371833	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:54371833G>A	ENST00000361921.3	+	3	571	c.547G>A	c.(547-549)Gca>Aca	p.A183T	DIO1_ENST00000388876.3_Missense_Mutation_p.A135T|DIO1_ENST00000524406.1_Missense_Mutation_p.A54T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.A119T|DIO1_ENST00000532493.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	183					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TCGCCTGCAGGCAGCCCATCT	0.572000													10	36					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048423	2048423	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:2048423C>T	ENST00000563630.1	-	12	2602	c.2360G>A	c.(2359-2361)aGc>aAc	p.S787N	ZNF598_ENST00000431526.1_Missense_Mutation_p.S842N|ZNF598_ENST00000562103.1_Missense_Mutation_p.S787N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	842						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGACTTGGTGCTCAGAGGCTT	0.632000													31	81					0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64717902	64717902	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:64717902C>T	ENST00000301896.5	-	5	221	c.147_splice	c.e5-1	p.D50_splice	C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000432175.1_Splice_Site_p.D50_splice|C11orf85_ENST00000536065.1_5'UTR	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	50										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						CGGACAGAATCCTGAAAAACA	0.358000													5	28					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095627	130095627	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:130095627C>T	ENST00000265379.6	+	3	1109	c.615C>T	c.(613-615)atC>atT	p.I205I	COL6A5_ENST00000432398.2_Silent_p.I205I			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	205	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGACACAGATCATCAAGGATG	0.478000													6	29					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9014253	9014253	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:9014253C>T	ENST00000344836.4	-	5	772	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	USP7_ENST00000381886.4_Missense_Mutation_p.E176K|USP7_ENST00000535863.1_Missense_Mutation_p.E93K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	192	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACAAAGACTTCAAAGGTAACT	0.363000													14	53					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28211921	28211921	+	Silent	SNP	G	G	A	rs138450833	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:28211921G>A	ENST00000284984.2	-	7	2467	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	671	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCTGCAAAACGAAGAAGTAGC	0.458000													20	99					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761099	27761099	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:27761099C>T	ENST00000261588.4	+	16	2837	c.2818C>T	c.(2818-2820)Ccc>Tcc	p.P940S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	940										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CGACTTGCCCCCCTCCAAGAA	0.632000													6	38					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179979887	179979887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179979887G>A	ENST00000428443.3	-	16	2060	c.1744C>T	c.(1744-1746)Cga>Tga	p.R582*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	582					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGTTCAGTCGAGGAAGTGTA	0.428000													4	26					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4446005	4446005	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:4446005G>C	ENST00000254718.4	-	21	3230	c.2924C>G	c.(2923-2925)aCc>aGc	p.T975S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.T975S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	975					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTACACCCGGGTCACCAGGTT	0.647000													21	107					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284741	223284741	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:223284741C>T	ENST00000540964.1	-	4	2094	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	TLR5_ENST00000342210.6_Missense_Mutation_p.D545N			O60602	TLR5_HUMAN	toll-like receptor 5	545			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		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)		GCAGGTAAATCATTGTGAGAA	0.413000													28	80					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614919	3614919	+	RNA	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3614919G>A	ENST00000301749.7	-	0	524				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGGGCCTGGGAGCCTTGACT	0.711000													9	33					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210766	37210766	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37210766C>T	ENST00000585696.1	+	3	2277	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	ZNF567_ENST00000588311.1_Silent_p.L349L|ZNF567_ENST00000536254.2_Silent_p.L380L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.L349L|ZNF567_ENST00000360729.4_Silent_p.L349L			Q8N184	ZN567_HUMAN	zinc finger protein 567	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGACAACACTCTCTCTACATC	0.438000													9	63					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927479	43927479	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:43927479C>T	ENST00000282406.4	+	8	1492	c.1382C>T	c.(1381-1383)cCa>cTa	p.P461L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	461						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAAGCCAGCCACAGTTAAGC	0.428000													25	60					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37652938	37652938	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:37652938C>T	ENST00000378588.4	+	5	425	c.358C>T	c.(358-360)Cta>Tta	p.L120L	CYBB_ENST00000545017.1_Silent_p.L88L|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	120	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CATTGCACATCTATTTAATGT	0.403000													12	33					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040817	107040817	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:107040817C>T	ENST00000409886.3	-	20	3693	c.3606G>A	c.(3604-3606)ctG>ctA	p.L1202L	RGPD3_ENST00000304514.7_Silent_p.L1202L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1202					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGAAATCTTTCAGTCCACTCT	0.423000													31	79					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597231	75597231	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:75597231G>A	ENST00000502798.2	+	12	2303	c.1861G>A	c.(1861-1863)Ggg>Agg	p.G621R	SV2C_ENST00000322285.7_Missense_Mutation_p.G621R|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	621					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGTGCTTTCGGGGATCAGCTG	0.483000													25	104					0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112843836	112843836	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:112843836G>A	ENST00000424576.2	-	6	720	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	RPL6_ENST00000202773.9_Silent_p.L179L	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	179				GPLVLNR -> DLWSSIE (in Ref. 1; CAA49188).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TTGAGGACCAGAGGTCCTAAG	0.388000													7	27					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75695626	75695626	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:75695626C>T	ENST00000315758.5	+	9	1009	c.915C>T	c.(913-915)atC>atT	p.I305I	MDH2_ENST00000443006.1_Silent_p.I198I|MDH2_ENST00000432020.2_Silent_p.I263I	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	305					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	ACCTGGGCATCGGCAAAGTCT	0.498000													15	62					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32085698	32085698	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:32085698G>A	ENST00000375201.4	-	12	1398	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	ATF6B_ENST00000375203.3_Silent_p.L454L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	454					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGACCCCTGGAGAGGTTCAA	0.627000													4	11					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97839129	97839129	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:97839129C>T	ENST00000370192.3	-	16	2146	c.2046G>A	c.(2044-2046)ctG>ctA	p.L682L		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	682					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCCACAGGCCAGGCCCATTC	0.458000													9	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062543	9062543	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9062543G>A	ENST00000397910.4	-	3	25106	c.24903C>T	c.(24901-24903)aaC>aaT	p.N8301N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8303	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGCCAGGGTTGAGAAGAG	0.517000													14	48					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430375	78430375	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:78430375G>A	ENST00000370767.1	-	10	880	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	FUBP1_ENST00000370768.2_Missense_Mutation_p.R265W|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286W			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	265					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TACTCATTCCGAACTTCTCTG	0.348000			"""F, N"""		oligodendroglioma								30	115					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6935985	6935985	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:6935985G>C	ENST00000311268.3	+	5	2170	c.1383G>C	c.(1381-1383)agG>agC	p.R461S	GPR162_ENST00000428545.2_Missense_Mutation_p.R177S|GPR162_ENST00000382315.3_Missense_Mutation_p.R157S	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	461						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AAAGACACAGGTTGGAGGACG	0.642000													23	67					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117314613	117314613	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:117314613G>A	ENST00000321322.6	-	21	4032	c.4031C>T	c.(4030-4032)cCt>cTt	p.P1344L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1074L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1284	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGCCAGCAGGCTCGATGGT	0.622000													18	53					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548479	22548479	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:22548479G>C	ENST00000317216.2	-	2	1028	c.671C>G	c.(670-672)cCt>cGt	p.P224R	EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.P186R|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	224					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		AGGGGTAATAGGGGGCGGGTT	0.617000													20	93					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833265	82833265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:82833265G>A	ENST00000265077.3	+	8	5008	c.4443G>A	c.(4441-4443)tgG>tgA	p.W1481*	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W494*|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1481	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGTTACATGGAAGCCTGAGA	0.413000													14	54					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65113662	65113662	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:65113662C>T	ENST00000371073.2	+	9	1335	c.1335C>T	c.(1333-1335)aaC>aaT	p.N445N	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.N394N			Q5VU97	CAHD1_HUMAN	cache domain containing 1	445					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCTTCCCAACCGGATGATTG	0.498000													7	21					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41355729	41355729	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:41355729C>T	ENST00000301141.5	-	2	357	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	113					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TCACCATAGCCTTTGAAGACC	0.627000													17	58					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636052	7636052	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:7636052C>T	ENST00000359156.4	-	12	3201	c.2999G>A	c.(2998-3000)gGg>gAg	p.G1000E	CD163_ENST00000396620.3_Missense_Mutation_p.G1033E|CD163_ENST00000541972.1_Missense_Mutation_p.G988E|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.G1000E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1000	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGACTCATTCCCTTTGCACTT	0.512000													8	33					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251334	19251334	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:19251334G>A	ENST00000527884.1	-	10	1792	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	E2F8_ENST00000250024.4_Silent_p.S520S|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	520					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATGGCATAGGATGGGCCTG	0.612000													25	118					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226939	149226939	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:149226939C>T	ENST00000407073.1	+	9	2424	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	MBD5_ENST00000404807.1_Missense_Mutation_p.P476L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	476						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGATGCCACCTGTAGGACCC	0.507000													6	32					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682871	47682871	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:47682871C>T	ENST00000283303.2	+	6	2148	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	GPR115_ENST00000371220.1_Silent_p.S687S|GPR115_ENST00000327753.3_Silent_p.S630S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	630					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGGCACTTCCTTGACGTTCC	0.443000													31	70					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71791797	71791797	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:71791797C>T	ENST00000269500.5	-	7	1029	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	FBXO15_ENST00000419743.2_Missense_Mutation_p.E308K	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	232										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAGCCAGTTCTTCCTCCTTC	0.363000													21	61					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47774721	47774721	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:47774721C>T	ENST00000221922.6	+	12	1604	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	461										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCGGGATCCCCTGCAGTGAG	0.657000													15	47					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968876	87968876	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:87968876C>T	ENST00000369577.3	+	8	5572	c.5529C>T	c.(5527-5529)ggC>ggT	p.G1843G	ZNF292_ENST00000339907.4_Silent_p.G1838G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTTAGAAGGCTTACAGAAAT	0.373000													8	25					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898119	12898119	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:12898119G>A	ENST00000338034.4	-	21	2230	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	ELAC2_ENST00000426905.3_Missense_Mutation_p.S624F|ELAC2_ENST00000395962.2_Missense_Mutation_p.S645F	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	664					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGTGTCCCCGGAATAGACCAC	0.597000													13	44					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997708	28997708	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:28997708C>T	ENST00000395456.2	+	5	573	c.251C>T	c.(250-252)tCc>tTc	p.S84F	LAT_ENST00000563964.1_3'UTR|LAT_ENST00000566177.1_Missense_Mutation_p.S83F|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Missense_Mutation_p.S84F|LAT_ENST00000395461.3_Missense_Mutation_p.S120F|LAT_ENST00000564277.1_Missense_Mutation_p.S83F|LAT_ENST00000454369.2_Missense_Mutation_p.S83F|LAT_ENST00000360872.5_Missense_Mutation_p.S84F	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	84					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CCCAGAAGATCCCCGCAGCCC	0.622000													23	95					0	0	1	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529405	55529405	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:55529405C>T	ENST00000395468.3	+	3	265	c.88C>T	c.(88-90)Cct>Tct	p.P30S	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	30	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						ACCTGGCCAACCTCCTCAAGG	0.527000													10	26					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862765	84862765	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84862765C>G	ENST00000403245.3	-	23	3242	c.3128G>C	c.(3127-3129)aGa>aCa	p.R1043T	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R967T	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1043					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCAAGGTTTCTTACAGTGAT	0.378000													7	10					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636173	44636173	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:44636173C>T	ENST00000322734.2	+	3	821	c.488C>T	c.(487-489)tCt>tTt	p.S163F	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAGCCCTATTCTTGTATTGAG	0.438000													27	91					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3340514	3340514	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3340514C>T	ENST00000219069.5	+	6	2884	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	ZNF263_ENST00000538765.1_Missense_Mutation_p.R318W	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	670					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAGCTTCTCTCGGAGTTCCCG	0.502000													13	46					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011596	21011596	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:21011596C>T	ENST00000261383.3	-	43	6370	c.6371G>A	c.(6370-6372)cGg>cAg	p.R2124Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2124	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGGCCCTTCCGTCGTCGATC	0.512000													21	67					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816316	26816316	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:26816316C>T	ENST00000444914.3	+	2	607	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Missense_Mutation_p.P63S	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	63						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGCCCTCTTCCCCTTAATCCT	0.622000													13	46					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5262893	5262893	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:5262893C>T	ENST00000274181.7	+	18	2924	c.2786C>T	c.(2785-2787)cCc>cTc	p.P929L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	929	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCTGTCCTCCCAGGTAAGAA	0.507000													19	45					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158165144	158165144	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:158165144C>T	ENST00000259056.4	+	9	3071	c.2586C>T	c.(2584-2586)atC>atT	p.I862I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	862	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAGCCCCCATCCCTGATAAAG	0.418000													43	134					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226991	43226991	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:43226991G>A	ENST00000259750.4	+	11	1315	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	TTBK1_ENST00000304139.5_Missense_Mutation_p.R360Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	411						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AACAAACTCCGGATCAACATC	0.642000													5	71					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361640	97361640	+	RNA	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:97361640A>G	ENST00000457909.1	+	0	3559							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAAAGCTTCCAAGTACGGCCC	0.632000													3	17					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85121526	85121526	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:85121526G>A	ENST00000437941.2	-	10	1649	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	SSX2IP_ENST00000342203.3_Silent_p.L460L|SSX2IP_ENST00000370612.4_Silent_p.L460L|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Silent_p.L433L	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	460					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCCAATCCCAGGCGAATAGCG	0.418000													8	21					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249047	140249047	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140249047A>T	ENST00000398640.2	+	1	359	c.359A>T	c.(358-360)aAc>aTc	p.N120I	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCATGTGAACGTGGAGGTG	0.567000													62	170					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65890231	65890231	+	Silent	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:65890231T>C	ENST00000321892.4	+	9	2932	c.2871T>C	c.(2869-2871)gtT>gtC	p.V957V	BPTF_ENST00000335221.5_Silent_p.V957V|BPTF_ENST00000424123.3_Silent_p.V818V|BPTF_ENST00000306378.6_Silent_p.V831V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	957					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTGTGCAGTTAAACCAGTTG	0.403000													26	83					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37829901	37829901	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:37829901G>A	ENST00000300658.4	-	6	652	c.560C>T	c.(559-561)aCc>aTc	p.T187I	PGAP3_ENST00000429199.2_Missense_Mutation_p.T166I|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Missense_Mutation_p.T136I	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	187					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CAGCCCCACGGTCCTGCCCCA	0.652000													20	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424738	179424738	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179424738C>T	ENST00000589042.1	-	326	86345	c.86121G>A	c.(86119-86121)ggG>ggA	p.G28707G	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.G26139G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G27066G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.G19642G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.G19834G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.G19767G|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27066	Fibronectin type-III 109.						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)			TATATTCTGTCCCTCGTAAGC	0.428000													17	35					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74281004	74281004	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:74281004G>A	ENST00000316900.5	-	4	654	c.530C>T	c.(529-531)gCc>gTc	p.A177V	STOML1_ENST00000316911.6_Missense_Mutation_p.A127V|STOML1_ENST00000561656.1_Missense_Mutation_p.A90V|STOML1_ENST00000564777.1_Missense_Mutation_p.A127V|STOML1_ENST00000359750.4_Missense_Mutation_p.A177V|STOML1_ENST00000541638.1_Missense_Mutation_p.A135V	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	177						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTTGAGCAGGGCCTTGGTCAT	0.592000													12	68					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503613	47503613	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:47503613C>T	ENST00000404338.3	+	6	4168	c.4168C>T	c.(4168-4170)Ctc>Ttc	p.L1390F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1390	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAGGTGAATCTCATGACCAG	0.587000													41	171					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455305	70455305	+	Nonsense_Mutation	SNP	G	G	A	rs139303872	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:70455305G>A	ENST00000503640.1	-	6	1424	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.R623*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.R457*|UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.R466*|UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.R413*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R457*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGACTGCTCGATCCAGGGGC	0.448000													26	101					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78395051	78395051	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:78395051C>T	ENST00000330010.8	+	8	1020	c.723C>T	c.(721-723)taC>taT	p.Y241Y	NEXN_ENST00000334785.7_Silent_p.Y305Y|NEXN_ENST00000457030.1_Silent_p.Y291Y	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	305	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)		TTAAAGGGTACCGCCCTGGTA	0.358000													4	25					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160692157	160692157	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:160692157C>T	ENST00000263636.4	-	26	3535		c.e26-1		LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site	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)		TGAGTTCATCCTGTAAGGAGC	0.373000													13	54					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133888	74133888	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:74133888C>T	ENST00000322957.6	-	3	1166	c.812G>A	c.(811-813)gGg>gAg	p.G271E		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	271				GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDI SPNTLCPRGGQGPA (in Ref. 2; CAA67729).	actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GCGCTTATGCCCCAGCCTGCC	0.736000													4	15					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96386562	96386562	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:96386562G>A	ENST00000261208.3	-	9	979	c.611C>T	c.(610-612)cCt>cTt	p.P204L	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.P204L	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	204					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACACCTCTCAGGACTTAGTGG	0.443000													52	141					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210370	228210370	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:228210370C>T	ENST00000284523.1	+	2	152	c.74C>T	c.(73-75)tCg>tTg	p.S25L	WNT3A_ENST00000366753.2_Missense_Mutation_p.S25L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	25					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTCTGCAGGTCGCTGGCTGTT	0.637000													16	51					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4927109	4927109	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:4927109C>T	ENST00000396658.4	+	15	3965	c.3262C>T	c.(3262-3264)Cac>Tac	p.H1088Y	UBN1_ENST00000262376.6_Missense_Mutation_p.H1088Y|UBN1_ENST00000590769.1_Missense_Mutation_p.H1088Y|UBN1_ENST00000545171.1_Missense_Mutation_p.H1088Y	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1088					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGGCCTTGGCCACAGTAAGTG	0.582000													45	160					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37829900	37829900	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:37829900G>A	ENST00000300658.4	-	6	653	c.561C>T	c.(559-561)acC>acT	p.T187T	PGAP3_ENST00000429199.2_Silent_p.T166T|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Silent_p.T136T	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	187					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GCAGCCCCACGGTCCTGCCCC	0.647000													21	65					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529414	234529414	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:234529414G>A	ENST00000040877.1	-	27	4412	c.4413C>T	c.(4411-4413)atC>atT	p.I1471I	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1471					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCGGTTTGTCGATGAGCGAGG	0.463000													17	56					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233092129	233092129	+	Silent	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:233092129T>C	ENST00000366627.4	+	3	305	c.234T>C	c.(232-234)gtT>gtC	p.V78V	NTPCR_ENST00000366628.4_Silent_p.V78V			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	78							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						AATGCCGAGTTGGGCAGTATG	0.438000													12	29					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279175	74279175	+	Silent	SNP	G	G	A	rs143665140		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:74279175G>A	ENST00000295897.4	+	8	971	c.882G>A	c.(880-882)tcG>tcA	p.S294S	ALB_ENST00000401494.3_Silent_p.S179S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.S294S|ALB_ENST00000503124.1_Silent_p.S144S|ALB_ENST00000415165.2_Silent_p.S102S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	294	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATCAAGATTCGATCTCCAGTA	0.418000													27	53					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355594	34355594	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:34355594G>A	ENST00000383263.5	+	3	1346	c.676G>A	c.(676-678)Gac>Aac	p.D226N	CHRM5_ENST00000557872.1_Missense_Mutation_p.D226N	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	226					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GCGAACCAAGGACCTGGCTGA	0.527000													33	128					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67411991	67411991	+	Nonstop_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:67411991T>C	ENST00000371012.2	+	5	488	c.244T>C	c.(244-246)Tag>Cag	p.*82Q	MIER1_ENST00000371018.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000479067.1_Intron|MIER1_ENST00000401041.1_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000357692.2_Intron|MIER1_ENST00000355356.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Intron	NM_001278215.1	NP_001265144.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	0	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AAATAACATGTAGAGCTAGGG	0.333000													18	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020077	9020077	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9020077C>T	ENST00000397910.4	-	21	37621	c.37418G>A	c.(37417-37419)aGa>aAa	p.R12473K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12475	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCGCTCTCTGTTGAGTCC	0.562000													40	158					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044428	33044428	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:33044428G>A	ENST00000286835.7	-	20	3110	c.2728C>T	c.(2728-2730)Cca>Tca	p.P910S	SCAF4_ENST00000399804.1_Missense_Mutation_p.P888S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P895S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	910						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCATGCGGTGGGAAGGGACCT	0.667000													18	50					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182947467	182947467	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:182947467C>T	ENST00000328913.3	-	17	2329	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	MCF2L2_ENST00000447025.2_Missense_Mutation_p.E678K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E678K	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	678	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.E678K(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGTGAAATTCGTAAAGTTCT	0.328000													14	66					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633997	70633997	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:70633997G>A	ENST00000381269.2	-	2	1896	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	SLC8A3_ENST00000357887.3_Silent_p.S381S|SLC8A3_ENST00000356921.2_Silent_p.S381S|SLC8A3_ENST00000528359.1_Silent_p.S381S|SLC8A3_ENST00000534137.1_Silent_p.S381S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	381					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)		CGCTCATGCTGGAGGCCTTCT	0.517000													33	103					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646682	57646682	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:57646682C>T	ENST00000269834.1	-	5	1408	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAGGCCTTCTCACATATGC	0.403000													24	92					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401811	89401811	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89401811C>T	ENST00000439576.2	+	12	6369	c.5995C>T	c.(5995-5997)Cca>Tca	p.P1999S	ACAN_ENST00000352105.7_Missense_Mutation_p.P1999S|ACAN_ENST00000561243.1_Missense_Mutation_p.P1999S|ACAN_ENST00000559004.1_Missense_Mutation_p.P1999S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1999					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGGAGAGCCACCAGGTACTCC	0.552000													15	50					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836279	247836279	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:247836279C>T	ENST00000359688.2	-	1	86	c.65G>A	c.(64-66)gGa>gAa	p.G22E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGATAATTCCCTGGAGTTC	0.428000													11	36					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890662	229890662	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:229890662G>A	ENST00000392054.3	-	4	772	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	PID1_ENST00000392055.3_Missense_Mutation_p.H114Y|PID1_ENST00000354069.6_Missense_Mutation_p.H147Y|PID1_ENST00000409462.1_Missense_Mutation_p.H65Y|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	147	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGTCGAGATGATGGAGCCAA	0.582000													12	49					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30380610	30380610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:30380610C>T	ENST00000340513.4	+	14	2122	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.R496*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	496					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.R496*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAACAGAATTCGAATGCCCAC	0.418000													16	87					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4927108	4927108	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:4927108C>T	ENST00000396658.4	+	15	3964	c.3261C>T	c.(3259-3261)ggC>ggT	p.G1087G	UBN1_ENST00000262376.6_Silent_p.G1087G|UBN1_ENST00000590769.1_Silent_p.G1087G|UBN1_ENST00000545171.1_Silent_p.G1087G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1087					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGGCCTTGGCCACAGTAAGT	0.577000													44	162					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285608	27285608	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:27285608C>T	ENST00000496902.4	+	3	1274	c.788C>T	c.(787-789)gCg>gTg	p.A263V	EVX1_ENST00000535619.1_Missense_Mutation_p.A81V|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						ATGAGCCATGCGGCGGCCGCG	0.721000													3	51					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450088	158450088	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:158450088G>A	ENST00000368152.1	+	1	421	c.421G>A	c.(421-423)Gat>Aat	p.D141N	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GATGGGTTATGATCGCTATGC	0.488000													54	149					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730589	173730589	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:173730589G>A	ENST00000506823.1	+	6	1288	c.631G>A	c.(631-633)Gga>Aga	p.G211R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.G194R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	211	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAAAGAGAAGGACTCATCCG	0.512000													26	52					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43436461	43436461	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:43436461C>T	ENST00000395891.1	+	7	1209	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	HECW1_ENST00000453890.1_Missense_Mutation_p.R202W|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	202	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACAAGGAAGTCGGAGGCTGAT	0.423000													14	51					0	0	1	0	0
LOC401242	401242	broad.mit.edu	37	6	28829564	28829564	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:28829564C>T	ENST00000440244.1	-	0	295					NR_033379.1																						CATCCTCTTCCCCAGAAAGCC	0.542000													4	5					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8228877	8228877	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:8228877T>G	ENST00000539824.1	+	12	1602	c.1228T>G	c.(1228-1230)Tgc>Ggc	p.C410G	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.C486G			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	486							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCCTCCTTCTGCTTGGAAGC	0.652000													5	28					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212576880	212576880	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:212576880C>T	ENST00000342788.4	-	9	1329	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	ERBB4_ENST00000436443.1_Missense_Mutation_p.G340E|ERBB4_ENST00000402597.1_Missense_Mutation_p.G340E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	340					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATCAATGATCCTGTGCCAAT	0.363000										TSP Lung(8;0.080)			11	31					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875847	42875847	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:42875847C>T	ENST00000025301.2	+	8	3140	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	989					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCCAAATTTCCTGACTCTCA	0.403000													4	48					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101821823	101821823	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:101821823G>A	ENST00000360264.3	+	11	956	c.936G>A	c.(934-936)caG>caA	p.Q312Q	CUX1_ENST00000550008.2_Silent_p.Q301Q|CUX1_ENST00000556210.1_Silent_p.Q301Q|CUX1_ENST00000546411.2_Silent_p.Q301Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.Q296Q|CUX1_ENST00000437600.4_Silent_p.Q310Q|CUX1_ENST00000549414.2_Silent_p.Q301Q|CUX1_ENST00000292538.4_Silent_p.Q312Q|CUX1_ENST00000425244.2_Silent_p.Q266Q|CUX1_ENST00000393824.3_Silent_p.Q273Q|CUX1_ENST00000292535.7_Silent_p.Q301Q	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	301					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGATCGCACAGCTGGTGGAGG	0.597000													5	10					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294026	219294026	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:219294026G>A	ENST00000248444.5	+	7	674	c.586G>A	c.(586-588)Gag>Aag	p.E196K	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.E196K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	196	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGCCAAGGAGATCCGAGA	0.617000													23	73					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947832	68947832	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:68947832G>A	ENST00000456315.2	-	8	1773	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	553					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAGACTCTCCGAGTTCACTTT	0.388000													24	126					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122411236	122411236	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:122411236C>T	ENST00000474629.2	+	4	710	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAAATATTTCCTCTTTGGTGG	0.378000													4	44					0	0	1	0	0
IL18	3606	broad.mit.edu	37	11	112014327	112014327	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:112014327C>T	ENST00000280357.7	-	6	793	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.E192K|IL18_ENST00000524595.1_Missense_Mutation_p.E188K	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	192					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AGCTAGTCTTCGTTTTGAACA	0.443000													3	8					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214052	11214052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:11214052C>T	ENST00000533467.1	-	1	841	c.842G>A	c.(841-843)tGg>tAg	p.W281*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	281					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CTTGTTTCCCCAAATCAGGAT	0.428000													20	169					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152686	149152686	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:149152686G>A	ENST00000247930.4	-	2	751	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AACTGTTGGGGAAAGGGTCAG	0.587000													58	209					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125033	104125033	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:104125033G>A	ENST00000259407.2	-	4	1042	c.934C>T	c.(934-936)Cct>Tct	p.P312S	BAAT_ENST00000395051.3_Missense_Mutation_p.P312S	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	312					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTTCAATAGGAAACAAATAT	0.453000													9	79					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95952587	95952587	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:95952587C>T	ENST00000317620.9	+	18	2209	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	PROM2_ENST00000403131.2_Silent_p.S692S|PROM2_ENST00000317668.4_Silent_p.S692S|PROM2_ENST00000542147.1_Silent_p.S643S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	692						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.S692S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTGGAGTCCTCTGCCCCGA	0.627000													19	42					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57682846	57682846	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:57682846C>A	ENST00000451169.2	+	20	2226	c.1867C>A	c.(1867-1869)Cat>Aat	p.H623N	DHX40_ENST00000251241.4_Missense_Mutation_p.H671N|DHX40_ENST00000425628.3_Missense_Mutation_p.H594N			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	671							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATCATTTTTCATGAGGTATT	0.363000													10	37					0.000673444	0.000678208	1	1	0
PTH1R	5745	broad.mit.edu	37	3	46939361	46939361	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:46939361G>A	ENST00000313049.5	+	4	533	c.330G>A	c.(328-330)ccG>ccA	p.P110P	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Silent_p.P110P|PTH1R_ENST00000418619.1_Silent_p.P110P|PTH1R_ENST00000449590.1_Silent_p.P110P			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	110						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTGTCTGCCGGAATGGGACC	0.572000													8	30					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166218843	166218843	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:166218843G>A	ENST00000226725.6	+	7	996	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	KLHL2_ENST00000506761.1_Missense_Mutation_p.R80Q|KLHL2_ENST00000514860.1_Missense_Mutation_p.R250Q|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.R149Q|KLHL2_ENST00000538127.1_Missense_Mutation_p.R158Q	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	246					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAACATGTACGGTTACCTTTG	0.428000													15	41					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963300	196963300	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:196963300C>T	ENST00000367414.5	+	4	649	c.593C>T	c.(592-594)tCc>tTc	p.S198F	CFHR5_ENST00000256785.4_Missense_Mutation_p.S174F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	174	Sushi 3.				complement activation, alternative pathway	extracellular region		p.S174Y(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGAAATTCTCCTGCAGAAAA	0.353000													24	92					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212525	62212525	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:62212525G>A	ENST00000519846.1	+	3	611	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CLVS1_ENST00000325897.4_Missense_Mutation_p.D47N|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	47					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGAAAACCCCGATGTTTTACA	0.448000													11	48					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486466	36486466	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:36486466C>T	ENST00000342292.4	-	11	3006	c.2986G>A	c.(2986-2988)Gag>Aag	p.E996K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	996						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGCGTTCTCCCAGGGGCAG	0.637000													18	64					0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65847587	65847587	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:65847587G>A	ENST00000308259.5	+	6	646	c.372G>A	c.(370-372)gtG>gtA	p.V124V	MSRB3_ENST00000535664.1_Silent_p.V124V|MSRB3_ENST00000355192.3_Silent_p.V131V|MSRB3_ENST00000540804.1_Silent_p.V131V	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	131					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCACAGGGTGGAAACAAGCT	0.468000													3	49					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979163	51979163	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:51979163C>T	ENST00000417220.2	+	7	1272	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	PARP3_ENST00000431474.1_Missense_Mutation_p.P262S|PARP3_ENST00000398755.3_Missense_Mutation_p.P269S			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	262	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCGTCATCCCGCACAACTT	0.642000													24	109					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79255393	79255393	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:79255393C>T	ENST00000272324.5	+	6	703	c.519C>T	c.(517-519)ttC>ttT	p.F173F	REG3G_ENST00000393897.2_Silent_p.F173F|REG3G_ENST00000409471.1_Silent_p.F127F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	173					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTGCAAGTTCAAGGACTAGG	0.478000													13	57					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532635	71532635	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:71532635G>A	ENST00000265382.3	+	9	1248	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G315R	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	315	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCAGGGTCCAGGGAAATCTGG	0.527000													13	55					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91781717	91781717	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:91781717C>T	ENST00000370425.3	-	27	3021	c.2923G>A	c.(2923-2925)Gga>Aga	p.G975R	HFM1_ENST00000370424.3_Missense_Mutation_p.G654R|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.G207R	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	975	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCTGGGTTCCAAAGGGGGGA	0.254000													9	42					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230683171	230683171	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:230683171A>G	ENST00000283943.5	-	8	1542	c.1364T>C	c.(1363-1365)cTt>cCt	p.L455P	TRIP12_ENST00000389045.3_Missense_Mutation_p.L158P|TRIP12_ENST00000389044.4_Missense_Mutation_p.L503P|TRIP12_ENST00000543084.1_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	455					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACTGCCTGAAGCTGTTGACT	0.398000													12	106					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706553	96706553	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:96706553G>A	ENST00000389672.5	+	3	868	c.830G>A	c.(829-831)gGa>gAa	p.G277E	EPHA6_ENST00000470610.2_Missense_Mutation_p.G277E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G183E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	182						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAAGGAAAGGATTTTATCTG	0.458000													44	204					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588207	23588207	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:23588207C>T	ENST00000206513.5	-	1	618	c.94G>A	c.(94-96)Gac>Aac	p.D32N		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCACACATGTCCCCTAGCTCC	0.647000													24	61					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057378	9057378	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9057378G>A	ENST00000397910.4	-	3	30271	c.30068C>T	c.(30067-30069)tCt>tTt	p.S10023F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10025	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACAACAGAGAAGATGAAGA	0.438000													15	37					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804351	27804351	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:27804351C>T	ENST00000408964.2	+	1	4963	c.4912C>T	c.(4912-4914)Cat>Tat	p.H1638Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1638	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAGAGGAGCCATCGCGGTCC	0.572000													35	144					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149584095	149584095	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:149584095G>A	ENST00000230671.2	+	11	1704	c.1332_splice	c.e11-1	p.G445_splice	SLC6A7_ENST00000524041.1_Splice_Site_p.G445_splice	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	445						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGTGTTTTAGGGGGGCATGTA	0.582000													15	72					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267028	72267028	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:72267028T>C	ENST00000340726.3	-	3	752	c.113A>G	c.(112-114)aAt>aGt	p.N38S	EYA1_ENST00000419131.1_Missense_Mutation_p.N38S|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000303824.7_Missense_Mutation_p.N38S|EYA1_ENST00000388742.4_Missense_Mutation_p.N38S|EYA1_ENST00000388743.2_Missense_Mutation_p.N38S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	38					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCGGTGCCATTGGGAGTCAT	0.443000													73	103					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65631190	65631190	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:65631190C>T	ENST00000308110.4	+	9	1308	c.959C>T	c.(958-960)cCa>cTa	p.P320L	MUS81_ENST00000533035.1_Missense_Mutation_p.P245L	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	320	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCTAGAGACCCAGGTGAAGGG	0.632000								Homologous recombination					19	56					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105671242	105671242	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:105671242C>T	ENST00000542731.1	+	18	2417	c.2309C>T	c.(2308-2310)aCt>aTt	p.T770I	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.T682I|CDHR3_ENST00000343407.5_Silent_p.N272N|CDHR3_ENST00000317716.9_Missense_Mutation_p.T770I			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	770					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTTAGGAAACTATCCAGATG	0.418000													4	15					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173794477	173794477	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:173794477C>T	ENST00000361951.4	+	1	837	c.110C>T	c.(109-111)tCa>tTa	p.S37L	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	37					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTGCAGAGTTCACAGAGGAGA	0.458000													15	57					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113785528	113785528	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:113785528C>T	ENST00000327407.2	-	5	533	c.426G>A	c.(424-426)gaG>gaA	p.E142E	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	88					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TTATGCCTCTCTCCTTGGTGA	0.468000													9	34					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26694126	26694126	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:26694126C>T	ENST00000436292.1	-	3	397	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	ZNF683_ENST00000403843.1_Missense_Mutation_p.G93S|ZNF683_ENST00000374204.1_Missense_Mutation_p.G93S|ZNF683_ENST00000349618.3_Missense_Mutation_p.G93S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTCTGTGCCCAGGGGTGCC	0.692000													9	21					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089196	220089196	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:220089196G>A	ENST00000366926.3	-	4	1214	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.I106I	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	351					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TAGGATACTTGATGTGCAGGG	0.433000													29	90					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47351382	47351382	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:47351382C>T	ENST00000426342.1	-	11	2133	c.1387G>A	c.(1387-1389)Ggg>Agg	p.G463R	MDGA2_ENST00000439988.2_Missense_Mutation_p.G692R|MDGA2_ENST00000399232.2_Missense_Mutation_p.G761R|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Missense_Mutation_p.G463R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	692	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGAATATTCCCATTTATTTTA	0.378000													5	31					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374558	113374558	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:113374558G>A	ENST00000316407.4	-	7	6381	c.5971C>T	c.(5971-5973)Cgt>Tgt	p.R1991C	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1991C	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1991					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCAGGCTGACGAATTTTGGAA	0.478000													7	18					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022473	51022473	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51022473C>T	ENST00000599957.1	-	3	694	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R166Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	166						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGGGTTGTTCCGCAGCCAGAG	0.647000													21	66					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488830	19488830	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:19488830C>T	ENST00000396229.2	+	13	2908	c.2159C>T	c.(2158-2160)tCt>tTt	p.S720F	TMC5_ENST00000381414.4_Missense_Mutation_p.S720F|TMC5_ENST00000561503.1_Missense_Mutation_p.S361F|TMC5_ENST00000542583.2_Missense_Mutation_p.S720F|TMC5_ENST00000219821.5_Missense_Mutation_p.S474F|TMC5_ENST00000541464.1_Missense_Mutation_p.S668F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000564959.1_Missense_Mutation_p.S403F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	720						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGCCCTGTCTGGTGAAGAG	0.413000													19	74					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289231	46289231	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:46289231G>A	ENST00000270223.6	-	3	1568	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	AC011530.4_ENST00000593999.1_Missense_Mutation_p.R1W|DMWD_ENST00000377735.3_Missense_Mutation_p.P508L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	508					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGCCACACCCGGGCCGCCCGC	0.726000													14	23					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862229	21862229	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:21862229G>A	ENST00000399982.2	-	31	5789	c.5725C>T	c.(5725-5727)Cgg>Tgg	p.R1909W	CHD8_ENST00000557364.1_Missense_Mutation_p.R1909W|CHD8_ENST00000430710.3_Missense_Mutation_p.R1630W	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1909					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATGCCAGCCGATCTTCCAAA	0.562000													12	45					0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58059144	58059144	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:58059144G>A	ENST00000325134.5	-	3	528	c.372C>T	c.(370-372)agC>agT	p.S124S	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Silent_p.S115S|ZNF550_ENST00000457177.1_Silent_p.S156S			Q7Z398	ZN550_HUMAN	zinc finger protein 550	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACCTTCAAGGCTCACTTTCC	0.502000													70	283					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485177	31485177	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:31485177C>T	ENST00000394863.3	+	4	334	c.204C>T	c.(202-204)tcC>tcT	p.S68S	TGFB1I1_ENST00000567607.1_Silent_p.S51S|TGFB1I1_ENST00000394858.2_Silent_p.S51S|TGFB1I1_ENST00000361773.3_Silent_p.S51S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	68	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						AGCCTCGGTCCCCAAAGCCTG	0.617000													26	94					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19741117	19741117	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19741117G>A	ENST00000203556.4	-	21	2705	c.2568C>T	c.(2566-2568)ctC>ctT	p.L856L	GMIP_ENST00000587238.1_Silent_p.L830L|GMIP_ENST00000445806.2_Silent_p.L827L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	856					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTGTCCCCAGGAGTGAGTCCT	0.612000													17	57					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200954086	200954086	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:200954086C>T	ENST00000332129.2	-	27	4020	c.3704G>A	c.(3703-3705)gGa>gAa	p.G1235E	KIF21B_ENST00000461742.2_Missense_Mutation_p.G1235E|KIF21B_ENST00000360529.5_Missense_Mutation_p.G1235E|KIF21B_ENST00000422435.2_Missense_Mutation_p.G1235E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1235					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGTGTGAATCCCACATCTGT	0.612000													10	39					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51766660	51766660	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:51766660G>A	ENST00000251076.5	-	28	7378	c.7091C>T	c.(7090-7092)tCc>tTc	p.S2364F	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1728F|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2365F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2364						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTCACTGGAGGAATTTGTGGC	0.418000													13	22					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638194	145638194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:145638194C>T	ENST00000276833.5	-	10	1992	c.1689G>A	c.(1687-1689)tgG>tgA	p.W563*	SLC39A4_ENST00000301305.3_Nonsense_Mutation_p.W588*|SLC39A4_ENST00000531013.1_5'UTR	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	588						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CTGCCAGGATCCAGGCCTCGC	0.667000													19	37					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416313	9416313	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:9416313C>A	ENST00000328089.6	+	2	704	c.363C>A	c.(361-363)gaC>gaA	p.D121E	SPSB1_ENST00000357898.3_Missense_Mutation_p.D121E|SPSB1_ENST00000377399.2_Missense_Mutation_p.D121E	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	121	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CGACGGCAGACGCCCCCCTGC	0.662000													17	66					6.94344e-10	7.05493e-10	1	1	0
SLC5A2	6524	broad.mit.edu	37	16	31497532	31497532	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:31497532G>A	ENST00000330498.3	+	5	529	c.510G>A	c.(508-510)ctG>ctA	p.L170L		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	170					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCAGGCTCTGGGCTGGAACA	0.602000													20	62					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42717175	42717175	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:42717175T>C	ENST00000263805.4	-	13	5304	c.4978A>G	c.(4978-4980)Agc>Ggc	p.S1660G	ZNF106_ENST00000565380.1_Missense_Mutation_p.S888G|ZNF106_ENST00000565611.1_Missense_Mutation_p.S845G	NM_022473.1	NP_071918.1			zinc finger protein 106																		GCAAGACAGCTGACTGCCCGA	0.483000													7	54					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39847324	39847324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:39847324C>T	ENST00000502986.2	+	8	915	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Nonsense_Mutation_p.Q212*	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	212					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACTGTCTATTCAGGACATCAC	0.562000											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42742249	42742249	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:42742249C>T	ENST00000441594.1	-	2	331	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	HHATL_ENST00000310417.5_Missense_Mutation_p.A24T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	24					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCAGCATAGGCCAGGGCCCCA	0.652000													12	36					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20649538	20649538	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:20649538G>T	ENST00000274695.4	+	5	468	c.301G>T	c.(301-303)Gca>Tca	p.A101S	CDKAL1_ENST00000378610.1_Missense_Mutation_p.A101S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.A31S	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	101	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGCATCCGATGCAGATTTATG	0.348000													11	40					0.0809354	0.0812206	1	1	0
SLC25A23	79085	broad.mit.edu	37	19	6454678	6454678	+	Translation_Start_Site	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:6454678T>A	ENST00000414491.2	-	0	3				SLC25A23_ENST00000301454.4_Missense_Mutation_p.Q178H|SLC25A23_ENST00000334510.5_Missense_Mutation_p.Q178H			Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23						transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TCAGCTTCTCTTGCTTTGAGA	0.612000													11	38					0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68504116	68504116	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:68504116G>A	ENST00000283006.2	+	8	668	c.581G>A	c.(580-582)aGg>aAg	p.R194K	CENPH_ENST00000515001.1_Missense_Mutation_p.R175K	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	194					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AACTCAGAGAGGATAAAGATC	0.313000													19	48					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233410	23233410	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:23233410C>T	ENST00000400191.3	+	11	2114	c.2096C>T	c.(2095-2097)aCc>aTc	p.T699I	EPHB2_ENST00000374632.3_Missense_Mutation_p.T700I|EPHB2_ENST00000374630.3_Missense_Mutation_p.T699I|EPHB2_ENST00000374627.1_Missense_Mutation_p.T694I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	699	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATGATCATCACCGAGTTCATG	0.577000													6	23					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345308	20345308	+	Silent	SNP	A	A	C	rs150472419		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:20345308A>C	ENST00000298642.2	+	1	918	c.882A>C	c.(880-882)gtA>gtC	p.V294V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCAAGAAGTAAAGATAGCCA	0.353000													9	49					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845885	156845885	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:156845885C>T	ENST00000368196.3	+	12	1617	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	NTRK1_ENST00000524377.1_Silent_p.I505I|NTRK1_ENST00000392302.2_Silent_p.I469I|NTRK1_ENST00000358660.3_Silent_p.I502I	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	505					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TTCACCACATCAAGCGCCGGG	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			22	96					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103363592	103363592	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:103363592G>A	ENST00000428762.1	-	8	959	c.800C>T	c.(799-801)tCc>tTc	p.S267F	RELN_ENST00000343529.5_Missense_Mutation_p.S267F|RELN_ENST00000424685.2_Missense_Mutation_p.S267F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	267					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTACCAATGGAAAATTGGAG	0.333000													8	27					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827472	1827472	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:1827472G>A	ENST00000170168.4	-	2	1410	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	439						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGTGGCCGAAGATGGCTT	0.731000													7	30					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444846	234444846	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:234444846G>A	ENST00000366618.3	+	4	753		c.e4-1		SLC35F3_ENST00000366617.3_Splice_Site	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3						transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCTTGTTTTAGGGAATGCTGT	0.378000													5	33					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298667	12298667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12298667C>T	ENST00000343979.4	+	4	1614	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R426*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	492					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TAGTTCCTTTCGACTACATGA	0.423000													9	31					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29909286	29909286	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:29909286C>T	ENST00000308713.5	-	2	626	c.99G>A	c.(97-99)gaG>gaA	p.E33E	SEZ6L2_ENST00000350527.3_Silent_p.E33E|SEZ6L2_ENST00000346932.5_Silent_p.E33E|SEZ6L2_ENST00000537485.1_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	33						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAATATCTCCTCCTCCTTCA	0.577000													10	42					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968710	119968710	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:119968710G>A	ENST00000327554.2	+	13	1858	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	465										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACTGCCAGAGGATCTAAAGAA	0.493000													17	38					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212241645	212241645	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:212241645C>T	ENST00000366991.4	+	9	1107	c.793C>T	c.(793-795)Cca>Tca	p.P265S	DTL_ENST00000542077.1_Missense_Mutation_p.P223S|DTL_ENST00000475419.1_Intron	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	265					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TTTCCTGTACCCAGGTAGCAG	0.348000													15	55					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186272751	186272751	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:186272751C>T	ENST00000504273.1	+	14	2256	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	SNX25_ENST00000512853.1_Intron|SNX25_ENST00000264694.8_Silent_p.F654F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	654					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GCGACTTCTTCTCCCACCAGG	0.458000													10	38					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38192010	38192010	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:38192010C>T	ENST00000394126.1	-	4	784	c.366G>A	c.(364-366)ttG>ttA	p.L122L	MED24_ENST00000501516.3_Silent_p.L97L|MED24_ENST00000394128.2_Silent_p.L97L|MED24_ENST00000394127.2_Silent_p.L84L|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Silent_p.L84L			O75448	MED24_HUMAN	mediator complex subunit 24	97					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGTCCAGCAATGCCTGGA	0.527000													10	35					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5810031	5810031	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:5810031G>A	ENST00000382674.2	+	18	2849	c.2665G>A	c.(2665-2667)Gcc>Acc	p.A889T	EVC_ENST00000264956.6_Missense_Mutation_p.A889T			P57679	EVC_HUMAN	Ellis van Creveld syndrome	889					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCTTCTGGAAGCCCAGCTGGA	0.567000													6	41					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625533	43625533	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:43625533C>T	ENST00000586348.1	+	0	45																											TGGTAAGCTCCAGGTCCAGAG	0.527000													14	100					0	0	1	0	0
ENTHD2	146705	broad.mit.edu	37	17	79207828	79207828	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:79207828G>A	ENST00000300714.3	-	5	385	c.328C>T	c.(328-330)Cct>Tct	p.P110S	ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1			ENTH domain containing 2																		CCGTGCAGAGGATCTGGGGGC	0.677000													3	10					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124352581	124352581	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:124352581G>A	ENST00000409039.3	+	42	7105	c.7080G>A	c.(7078-7080)atG>atA	p.M2360I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2360					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGGAAGGATGAAATTTGACG	0.502000													4	23					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372236	114372236	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:114372236C>T	ENST00000359785.5	-	18	2363	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	PTPN22_ENST00000528414.1_Missense_Mutation_p.G688E|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.G743E|PTPN22_ENST00000538253.1_Missense_Mutation_p.G499E|PTPN22_ENST00000525799.1_Missense_Mutation_p.G616E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	743					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACTTTTTCCAGGAGTCTT	0.393000													22	68					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734809	176734809	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:176734809C>T	ENST00000367662.3	+	15	5323	c.4159C>T	c.(4159-4161)Cat>Tat	p.H1387Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1387					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCTGTATCCATCGGCCCTG	0.507000													28	87					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198534	20198534	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:20198534C>T	ENST00000400331.5	-	5	1758	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	MACC1_ENST00000332878.4_Missense_Mutation_p.D484N|MACC1_ENST00000589011.1_Missense_Mutation_p.D484N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	484					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACACAAAAATCAAACAAGTGC	0.388000													25	47					0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17309722	17309722	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:17309722C>T	ENST00000425038.1	+	0	878					NR_003607.1																						AAGTGGTTTCCCTCCTCTTCC	0.353000													3	6					0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31510692	31510692	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:31510692G>A	ENST00000327237.2	-	5	570	c.531C>T	c.(529-531)ttC>ttT	p.F177F	C16orf58_ENST00000567994.1_Silent_p.F132F|C16orf58_ENST00000570164.1_Silent_p.F177F|C16orf58_ENST00000430477.2_Silent_p.F35F			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	177						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TAATCTCAAGGAACATGGCTA	0.527000													19	53					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224034	23224034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:23224034C>T	ENST00000300061.2	+	9	1473	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	444					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGCCTTTGTCCAGGAAGAGCT	0.592000													20	63					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518329	41518329	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:41518329C>T	ENST00000324071.4	+	7	1098	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	CYP2B6_ENST00000593831.1_Missense_Mutation_p.P128L|CYP2B6_ENST00000330446.5_Missense_Mutation_p.P164L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	364					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GACCTTCTCCCCATGGGTGTG	0.552000													17	47					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48284285	48284285	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:48284285T>A	ENST00000435803.1	+	11	1399	c.1375T>A	c.(1375-1377)Tta>Ata	p.L459I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	459					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCTCAGAATTTACATTTTGT	0.428000													22	59					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75983079	75983079	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:75983079G>A	ENST00000308508.5	-	3	419	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	109	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCACAGTGTGGGGGATGGAGT	0.607000													28	122					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201958123	201958123	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:201958123C>T	ENST00000295640.4	+	2	582	c.539C>T	c.(538-540)cCt>cTt	p.P180L	RNPEP_ENST00000367286.3_Missense_Mutation_p.P180L|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	180					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GCCTTCTTCCCTTGCTTCGAC	0.507000													34	98					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91371713	91371713	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:91371713C>T	ENST00000307534.4	-	2	951	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	PANK1_ENST00000322191.6_Missense_Mutation_p.E41K|PANK1_ENST00000342512.3_Missense_Mutation_p.E41K|PANK1_ENST00000371774.2_Missense_Mutation_p.E68K	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	266					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTCTCCACTTCCTCTTGCTCC	0.473000													14	54					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931683	115931683	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:115931683G>A	ENST00000238256.3	-	26	3423	c.3306C>T	c.(3304-3306)ccC>ccT	p.P1102P		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1102					endocytosis|protein folding	axon|early endosome	actin binding	p.P1102P(1)|p.P1127P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCCCTCCTCGGGGTCTGAAG	0.577000													9	77					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78346417	78346417	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:78346417G>A	ENST00000409931.3	-	2	544	c.473C>T	c.(472-474)cCc>cTc	p.P158L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.P158L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	158						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AAAATCCCCGGGAGTTGGAGA	0.473000													42	93					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40665946	40665946	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:40665946C>T	ENST00000343619.4	+	20	2321	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S690F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S733F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S379F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S684F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S727F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S734F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	733					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGCTGCATCTCCAACACTGCC	0.587000													36	132					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3680978	3680978	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:3680978G>A	ENST00000250693.1	+	3	330	c.229G>A	c.(229-231)Gac>Aac	p.D77N		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	77					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGTGTATGCAGACAGCTGGAC	0.632000													5	34					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565086	58565086	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:58565086G>A	ENST00000282326.1	+	6	1141	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGACTGTGGGATGGTCTTCA	0.627000													29	65					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271514	9271514	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9271514C>T	ENST00000247956.6	+	7	1498	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	ZNF317_ENST00000360385.3_Missense_Mutation_p.S366F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGCGGGAAATCCTTTGGCGAT	0.512000													6	22					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139180954	139180954	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:139180954C>T	ENST00000232217.2	-	2	308	c.252_splice	c.e2+1	p.K84_splice	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	84					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CGGTCAGTACCTTAACATGCC	0.428000													19	55					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591780	38591780	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:38591780C>T	ENST00000222345.6	+	6	2452	c.1943C>T	c.(1942-1944)cCc>cTc	p.P648L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	648	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)			GAGGCCGGCCCCGCCTTTGAG	0.607000													6	15					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918898	144918898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:144918898G>A	ENST00000529945.1	-	6	2216	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R496*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.R217*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R593*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	430					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438000			T	PDGFRB	MPD								51	470					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083279	91083279	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:91083279T>A	ENST00000420329.2	+	2	288	c.141T>A	c.(139-141)ttT>ttA	p.F47L	CRTC3_ENST00000560098.1_Missense_Mutation_p.F47L|CRTC3_ENST00000268184.6_Missense_Mutation_p.F47L|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	47	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGTTCAATTTCAGAAGCTTC	0.453000			T	MAML2	salivary gland mucoepidermoid								12	46					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958199	143958199	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:143958199G>A	ENST00000292427.4	-	4	730	c.698C>T	c.(697-699)tCc>tTc	p.S233F	CYP11B1_ENST00000377675.3_Missense_Mutation_p.S304F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.S233F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	233					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTGGACGGTGGATTTGAACAT	0.587000									Familial Hyperaldosteronism type I				11	32					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328270	243328270	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:243328270C>T	ENST00000366542.1	-	13	3043	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.D900N|CEP170_ENST00000366543.1_Missense_Mutation_p.D900N	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	998	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAACCCACATCTGTGGAACGA	0.413000													4	57					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650896	71650896	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:71650896C>T	ENST00000409544.1	+	22	4882	c.4252C>T	c.(4252-4254)Cca>Tca	p.P1418S	ZNF638_ENST00000409407.1_Missense_Mutation_p.P358S|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1418S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1418					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAAAGTTTTCCAAAATCTGT	0.398000													11	28					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82402461	82402461	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:82402461C>T	ENST00000370728.1	+	7	982	c.337C>T	c.(337-339)Cct>Tct	p.P113S	LPHN2_ENST00000370730.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370715.1_Missense_Mutation_p.P113S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P113S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.P113S|LPHN2_ENST00000370727.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370713.1_Missense_Mutation_p.P113S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P113S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P113S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P113S|LPHN2_ENST00000271029.4_Missense_Mutation_p.P113S|LPHN2_ENST00000370717.2_Missense_Mutation_p.P113S			O95490	LPHN2_HUMAN	latrophilin 2	113	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGATGTGTTTCCTGATCCATG	0.338000													14	62					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860911	16860911	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:16860911G>A	ENST00000524140.2	+	6	1876	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	NWD1_ENST00000549814.1_Silent_p.P486P|NWD1_ENST00000379808.3_Silent_p.P486P|NWD1_ENST00000339803.6_Silent_p.P351P|NWD1_ENST00000552788.1_Silent_p.P486P|NWD1_ENST00000523826.1_Silent_p.P280P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	486	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGGACCCGGAGGCCTACT	0.647000													17	73					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501596	90501596	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:90501596G>A	ENST00000325643.5	+	4	2260	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGCTCTGGACGAAGACAAGGA	0.557000													8	41					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43905788	43905788	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:43905788C>T	ENST00000291536.3	-	5	659	c.492G>A	c.(490-492)ttG>ttA	p.L164L	RSPH1_ENST00000398352.3_Silent_p.L126L	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	164					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CATTTTTGTTCAAGAACTTGC	0.502000													11	64					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131128387	131128387	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:131128387C>T	ENST00000352689.6	+	11	1361	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	MKLN1_ENST00000421797.2_Missense_Mutation_p.L349F	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	441					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTGGAAACTTCTTCGAGAGGA	0.448000													18	44					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76969543	76969543	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:76969543C>T	ENST00000315938.4	-	10	1002	c.752G>A	c.(751-753)aGa>aAa	p.R251K	GDPD4_ENST00000376217.2_Missense_Mutation_p.R251K	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	251	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ATTGGTTGTTCTTTTCAGGTC	0.458000													25	101					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891908	45891908	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:45891908C>T	ENST00000443527.2	+	9	1459	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	CRY2_ENST00000417225.2_Silent_p.F397F	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	458	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGAAAGCGTTCCCCTCTCGAT	0.527000													7	48					0	0	1	0	0
SEBOX	645832	broad.mit.edu	37	17	26692248	26692248	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:26692248C>T	ENST00000431468.1	-	1	17	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000438614.1_Intron|SEBOX_ENST00000536498.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_001080837.2	NP_001074306.2	Q9HB31	SEBOX_HUMAN	SEBOX homeobox	2					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCAGACCCCCCCATTTGGGTT	0.617000													6	16					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43767830	43767830	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:43767830G>A	ENST00000263801.3	-	9	1255	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P340S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P340S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P340S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	335					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)		GTGGTGGCAGGAGTGGAAGCC	0.473000								Other conserved DNA damage response genes					19	55					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211842481	211842481	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:211842481A>G	ENST00000366999.4	-	6	1097	c.959T>C	c.(958-960)cTc>cCc	p.L320P	NEK2_ENST00000540251.1_Missense_Mutation_p.L277P|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.L320P	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	320	Interaction with PCNT.|Leucine-zipper.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCTTGCTTTGAGAGCTCGCTC	0.453000													63	209					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27356219	27356219	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:27356219G>A	ENST00000395762.2	+	5	498	c.239G>A	c.(238-240)gGa>gAa	p.G80E	IL4R_ENST00000170630.2_Missense_Mutation_p.G80E|IL4R_ENST00000449195.1_Missense_Mutation_p.G80E|IL4R_ENST00000543915.2_Missense_Mutation_p.G80E|IL4R_ENST00000380922.3_Missense_Mutation_p.G65E	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	80					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGAACAACGGAGGCGCGGGG	0.632000													14	42					0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514404	98514404	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:98514404C>T	ENST00000268042.6	+	8	1408	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ARRDC4_ENST00000538249.1_Missense_Mutation_p.S328F	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	415					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CAGCCTGTTTCCTTCATTCTC	0.398000													23	79					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72308565	72308565	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:72308565G>A	ENST00000334456.5	-	5	667	c.422C>T	c.(421-423)cCt>cTt	p.P141L	PDE2A_ENST00000544570.1_Missense_Mutation_p.P134L|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.P132L|PDE2A_ENST00000540345.1_Missense_Mutation_p.P132L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	141					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTGGGTATCAGGAGCCAGTGG	0.642000													10	21					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249151675	249151675	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:249151675T>C	ENST00000451251.1	-	4	593	c.248A>G	c.(247-249)aAa>aGa	p.K83R	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.K78R|ZNF692_ENST00000427146.1_Missense_Mutation_p.K78R|ZNF692_ENST00000366471.3_Missense_Mutation_p.K78R|ZNF692_ENST00000306601.4_Missense_Mutation_p.K78R	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCAGACCTTTTGGAGGCAA	0.637000													9	47					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120780940	120780940	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:120780940C>T	ENST00000310396.5	+	15	2226	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	CPED1_ENST00000423795.1_Missense_Mutation_p.P367S|CPED1_ENST00000450913.2_Missense_Mutation_p.P587S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GGAACTAAATCCTGACTTTCA	0.368000													6	21					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31748802	31748802	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:31748802G>A	ENST00000375663.3	-	22	3083	c.2643C>T	c.(2641-2643)tcC>tcT	p.S881S	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	881					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCACCTGCAGGGAGATTCCAT	0.617000													14	45					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057934	53057934	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:53057934C>T	ENST00000359798.4	+	5	1945	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGACTTCATACTGGAGA	0.368000													18	70					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574529	57574529	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:57574529C>T	ENST00000243077.3	+	33	5932	c.5466C>T	c.(5464-5466)gtC>gtT	p.V1822V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1822					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTCCGTGGTCCTTCGGAACA	0.652000													14	85					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175225445	175225445	+	Silent	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:175225445T>C	ENST00000503780.1	+	6	846	c.432T>C	c.(430-432)ccT>ccC	p.P144P	CEP44_ENST00000296519.4_Silent_p.P144P|CEP44_ENST00000426172.1_Silent_p.P144P|CEP44_ENST00000457424.2_Silent_p.P144P	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	144						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AGTCAGAACCTCCTTTGGGCA	0.353000													11	41					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166929186	166929186	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:166929186G>C	ENST00000061240.2	+	7	1550	c.903G>C	c.(901-903)agG>agC	p.R301S	TLL1_ENST00000513213.1_Missense_Mutation_p.R301S|TLL1_ENST00000507499.1_Missense_Mutation_p.R301S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	301	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACTATGCCAGGAACACCTTCT	0.418000													7	62					0	0	1	0	0
MRPS11	64963	broad.mit.edu	37	15	89021115	89021115	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89021115G>A	ENST00000325844.4	+	6	755	c.490G>A	c.(490-492)Gga>Aga	p.G164R	MRPS11_ENST00000353598.6_Missense_Mutation_p.G131R|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	164					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGCCATGCACGGACTGATCAT	0.557000													3	37					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14574503	14574503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14574503G>T	ENST00000242783.6	+	10	1609	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	PKN1_ENST00000342216.4_Nonsense_Mutation_p.E488*	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	482					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTGTCATTGAGAGGATTCC	0.602000													22	66					6.32553e-13	6.45012e-13	1	1	0
MGEA5	10724	broad.mit.edu	37	10	103558700	103558700	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:103558700C>T	ENST00000361464.3	-	9	2103	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	MGEA5_ENST00000439817.1_Missense_Mutation_p.E517K|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.E570K|MGEA5_ENST00000357797.5_Missense_Mutation_p.E517K	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	570					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GGTCCATGCTCGTAAGGAAGG	0.448000													22	34					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948504	119948504	+	Missense_Mutation	SNP	C	C	T	rs141002177	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:119948504C>T	ENST00000307142.4	+	3	1176	c.980C>T	c.(979-981)gCc>gTc	p.A327V	SYNPO2_ENST00000429713.2_Missense_Mutation_p.A327V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.A327V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	327						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCCTTTGCCGTCTCATCA	0.552000													3	39					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826841	92826841	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:92826841G>A	ENST00000394468.2	-	5	1172	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	HEPACAM2_ENST00000440868.1_Silent_p.S353S|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000453812.2_Silent_p.S388S|HEPACAM2_ENST00000341723.4_Silent_p.S353S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	365						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAAGACACATGGATATAATCA	0.294000													10	19					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28206198	28206198	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:28206198G>A	ENST00000373921.3	+	3	283	c.279G>A	c.(277-279)ctG>ctA	p.L93L	THEMIS2_ENST00000373925.1_Silent_p.L93L|THEMIS2_ENST00000328928.7_Silent_p.L93L|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		ATGAAACCCTGGAGGAGCTGG	0.612000													9	40					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457501	27457501	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:27457501C>T	ENST00000316403.10	-	7	1365	c.960G>A	c.(958-960)caG>caA	p.Q320Q	CLU_ENST00000546343.1_Silent_p.Q331Q|CLU_ENST00000523500.1_Silent_p.Q320Q|CLU_ENST00000405140.3_Silent_p.Q320Q|CLU_ENST00000560366.1_Silent_p.Q372Q			P10909	CLUS_HUMAN	clusterin	320					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GCAGCTTAGCCTGGGAGGGGT	0.527000													4	34					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670263	74670263	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:74670263T>G	ENST00000370898.2	+	4	569	c.532T>G	c.(532-534)Ttt>Gtt	p.F178V	FPGT-TNNI3K_ENST00000370895.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000524915.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TATTGGAGAATTTGAGTTTAT	0.353000													9	32					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409510	30409510	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:30409510C>T	ENST00000320159.2	+	2	1315	c.939C>T	c.(937-939)gcC>gcT	p.A313A		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGGAGTTTGCCCGGGGATCCG	0.627000													17	50					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738074	19738074	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:19738074G>A	ENST00000222567.5	-	4	952	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	294	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CACTGCCTTGGAAAACAGGGT	0.423000													77	231					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051787	132051787	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:132051787C>T	ENST00000286355.5	-	1	2885	c.793G>A	c.(793-795)Ggg>Agg	p.G265R	ADCY8_ENST00000377928.3_Missense_Mutation_p.G265R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	265					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAGGAGCCCGTAGCCGAGG	0.667000										HNSCC(32;0.087)			7	41					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983146	57983146	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:57983146G>A	ENST00000309433.6	+	1	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATAAGGATATGAAAGGTGCCC	0.423000													36	104					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629532	118629532	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:118629532G>A	ENST00000336338.5	-	11	1524	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	487						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAGGGCAGAAGGGACACAATG	0.507000													33	84					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123537	140123537	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:140123537C>T	ENST00000458420.3	+	4	756	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	189	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.S189Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGGACTGCTCCCCACAGTAC	0.537000										HNSCC(16;0.037)			8	63					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50367233	50367233	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:50367233C>T	ENST00000322344.3	-	7	841	c.732G>A	c.(730-732)ggG>ggA	p.G244G	PNKP_ENST00000600573.1_Silent_p.G244G|PNKP_ENST00000600910.1_Silent_p.G244G|PNKP_ENST00000596014.1_Silent_p.G244G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	244					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGAAGGGGACCCCCAGCTTCT	0.637000								Other BER factors					4	19					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112302037	112302037	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:112302037C>T	ENST00000369702.4	+	3	1032	c.412C>T	c.(412-414)Cct>Tct	p.P138S	DDX20_ENST00000536167.1_Intron	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	138	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCTTGGCTCCTACAAGAGA	0.348000													6	31					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199302	86199302	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:86199302C>T	ENST00000361228.3	-	2	854	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	162					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAAGTTTTCCTGACTATTC	0.388000													28	80					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806165	26806165	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:26806165A>T	ENST00000541819.2	-	9	1264	c.1162T>A	c.(1162-1164)Ttt>Att	p.F388I	GABRB3_ENST00000545868.1_Missense_Mutation_p.F247I|GABRB3_ENST00000311550.5_Missense_Mutation_p.F332I|GABRB3_ENST00000299267.4_Missense_Mutation_p.F332I|GABRB3_ENST00000400188.3_Missense_Mutation_p.F261I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	332					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTCTTCCAAAGAAAATGTAG	0.483000													11	63					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189295	139189295	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:139189295G>A	ENST00000274710.3	+	2	475	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	90					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACATTCTGGAAGATTCAG	0.617000													33	90					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531868	75531868	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:75531868G>A	ENST00000297785.3	-	9	1057	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	335					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGGTCAGAGGATTTCCAAGG	0.418000													22	68					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57584636	57584636	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:57584636G>A	ENST00000243077.3	+	43	7546	c.7080G>A	c.(7078-7080)cgG>cgA	p.R2360R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2360					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCATCATGCGGGCGGCGCTCT	0.582000													5	24					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	347135	347135	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:347135C>T	ENST00000343164.4	-	5	572	c.520G>A	c.(520-522)Ggt>Agt	p.G174S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G82S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	174					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAGAGGTACCATTCAGGGAG	0.522000													12	40					0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11810168	11810168	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:11810168C>T	ENST00000510878.1	+	4	327	c.293C>T	c.(292-294)aCc>aTc	p.T98I	AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376629.4_Silent_p.Y126Y|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000314340.5_Silent_p.Y133Y|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000491346.1_3'UTR			Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	0						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGTGCCTACCAGACGATTG	0.577000													6	28					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57871874	57871874	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:57871874C>T	ENST00000381227.1	+	10	1619	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	POLR2B_ENST00000431623.2_Silent_p.F327F|POLR2B_ENST00000441246.2_Silent_p.F395F|POLR2B_ENST00000314595.5_Silent_p.F402F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	402					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGCTTGCATTCTTATTTAGAG	0.403000													15	44					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146105	55146105	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:55146105C>T	ENST00000396331.1	+	11	1731	c.1374C>T	c.(1372-1374)caC>caT	p.H458H	LILRB1_ENST00000324602.7_Silent_p.H459H|LILRB1_ENST00000396321.2_Silent_p.H458H|LILRB1_ENST00000418536.2_Silent_p.H442H|LILRB1_ENST00000448689.1_Silent_p.H458H|LILRB1_ENST00000396327.3_Silent_p.H459H|LILRB1_ENST00000396317.1_Silent_p.H442H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.H458H|LILRB1_ENST00000434867.2_Silent_p.H458H|LILRB1_ENST00000427581.2_Silent_p.H508H|LILRB1_ENST00000396315.1_Silent_p.H459H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	458					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGGAAGGCACCTGGGGGTTG	0.567000										HNSCC(37;0.09)			9	38					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556114	95556114	+	Silent	SNP	G	G	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:95556114G>T	ENST00000297591.5	-	2	195	c.120C>A	c.(118-120)gtC>gtA	p.V40V	KIAA1429_ENST00000437199.1_Silent_p.V40V|KIAA1429_ENST00000421249.2_Silent_p.V40V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	40					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATGACTCGGACTTCATTGA	0.408000													38	167					1.76056e-25	1.8033e-25	1	1	0
ANKK1	255239	broad.mit.edu	37	11	113270762	113270762	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:113270762G>A	ENST00000303941.3	+	8	2165	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	691							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCGCAACAAGGTGGGCTGGAC	0.632000													16	66					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373563	62373563	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:62373563G>A	ENST00000394773.2	-	13	1935	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L	EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.P543L|EML3_ENST00000494176.2_Missense_Mutation_p.P515L|EML3_ENST00000531557.1_Missense_Mutation_p.P326L|EML3_ENST00000278845.4_Missense_Mutation_p.P544L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	543						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACCAACCCGGGCCCCCACTG	0.637000													42	164					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106163551	106163551	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:106163551G>A	ENST00000369704.3	+	14	2238	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	702										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCCCTGGAGGAGGAGCTGGA	0.488000													5	13					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176998844	176998844	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:176998844G>A	ENST00000367654.2	-	5	1059	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	ASTN1_ENST00000361833.2_Missense_Mutation_p.S349F|ASTN1_ENST00000424564.2_Missense_Mutation_p.S349F|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S349F			O14525	ASTN1_HUMAN	astrotactin 1	349					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTGTGCCAGAATCCCCTTC	0.507000													5	15					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36882013	36882013	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:36882013C>T	ENST00000358127.4	-	8	1074	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	PAX5_ENST00000377853.2_Missense_Mutation_p.G334R|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.G291R|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.G226R|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.G291R	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	334					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGCACCATCCCTGTCAGCGTC	0.667000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								7	12					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110662171	110662171	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:110662171C>A	ENST00000394634.2	-	13	1837	c.1630G>T	c.(1630-1632)Gtg>Ttg	p.V544L	CFI_ENST00000512148.1_Missense_Mutation_p.V537L|CFI_ENST00000394635.3_Missense_Mutation_p.V552L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	544	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCCCAACTCACAACACCCCAG	0.468000													64	208					1.62403e-39	1.66496e-39	1	1	0
BEND4	389206	broad.mit.edu	37	4	42122227	42122227	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:42122227C>A	ENST00000502486.1	-	5	1810	c.1231G>T	c.(1231-1233)Ggg>Tgg	p.G411W	BEND4_ENST00000504360.1_Missense_Mutation_p.G407W	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	411	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGCCGTCTCCCATCTTTCTTT	0.453000													16	53					2.23348e-06	2.26128e-06	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908697	103908697	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:103908697G>A	ENST00000302259.3	+	1	1390	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	383					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTCGGACAAGGAAATTACACA	0.468000													12	29					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91371714	91371714	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:91371714C>T	ENST00000307534.4	-	2	950	c.795G>A	c.(793-795)gaG>gaA	p.E265E	PANK1_ENST00000322191.6_Silent_p.E40E|PANK1_ENST00000342512.3_Silent_p.E40E|PANK1_ENST00000371774.2_Silent_p.E67E	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	265					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TCTCCACTTCCTCTTGCTCCT	0.473000													15	54					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539825	56539825	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:56539825G>A	ENST00000390649.3	+	7	2226	c.2226G>A	c.(2224-2226)ggG>ggA	p.G742G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	742						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATGTCAAAGGGATCTTCCCAA	0.517000													34	157					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305456	204305456	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:204305456G>A	ENST00000319170.5	-	14	2756	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.F871F	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	819					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGAAGCAGGGAAAGCTGGCT	0.577000													14	39					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149153029	149153029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:149153029G>A	ENST00000247930.4	-	2	408	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGAGTTTCTCGGGGGAGTCCA	0.552000													13	43					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122411235	122411235	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:122411235C>T	ENST00000474629.2	+	4	709	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAAAATATTTCCTCTTTGGTG	0.373000													4	46					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923258	35923258	+	Missense_Mutation	SNP	C	C	T	rs142738122	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:35923258C>T	ENST00000490799.1	-	17	2256	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.E635K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E530K	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	635	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAGGATGCTTCGGGATCCAGT	0.478000													14	53					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994589	140994589	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:140994589C>A	ENST00000285879.4	+	4	1685	c.1399C>A	c.(1399-1401)Cac>Aac	p.H467N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	467				H -> Q (in Ref. 1; AAC18837).			protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGAACTCACAGTACTTT	0.488000										HNSCC(15;0.026)			52	68					2.84144e-21	2.9052e-21	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3677379	3677379	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:3677379G>A	ENST00000344754.4	-	10	2536	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S846F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	846	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCGACCATGGGATGGGACCTG	0.632000													16	74					0	0	1	0	0
AGPAT6	137964	broad.mit.edu	37	8	41456766	41456766	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:41456766T>A	ENST00000396987.3	+	2	1035	c.108T>A	c.(106-108)ttT>ttA	p.F36L		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	36					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CAGCCATTTTTGGAGTCTCCT	0.443000													40	85					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166454	180166454	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:180166454C>T	ENST00000307832.2	-	1	645	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTATGACTCGGGCCACAAA	0.517000													18	76					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276531	47276531	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:47276531C>T	ENST00000271153.4	+	2	268	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	CYP4B1_ENST00000371919.4_Missense_Mutation_p.P78S|CYP4B1_ENST00000371923.4_Missense_Mutation_p.P78S			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	78					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCACCAGTTCCCGTATGCCCA	0.552000													14	34					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100572932	100572932	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:100572932C>T	ENST00000287482.5	-	11	1464	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	SASS6_ENST00000535161.1_Missense_Mutation_p.E275K|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	442					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTAACTACCTCTTGCTCTTTA	0.289000													3	22					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127256	146127256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:146127256G>A	ENST00000237281.4	-	2	452	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	96							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ACTGGCCATCGATTCCATTCC	0.433000													52	88					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33686930	33686930	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:33686930G>A	ENST00000336934.5	-	9	2536	c.2420C>T	c.(2419-2421)cCc>cTc	p.P807L	STARD13_ENST00000255486.4_Missense_Mutation_p.P799L|STARD13_ENST00000399365.3_Missense_Mutation_p.P689L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	807	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAGGTTCATGGGCGTCATCTG	0.498000													48	107					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192384	179192384	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:179192384G>A	ENST00000292599.3	+	2	636	c.373G>A	c.(373-375)Gat>Aat	p.D125N	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	125					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.D162N(1)|p.D125N(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGAATGGCGATCAACAGAA	0.478000													15	61					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204859	1204859	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:1204859C>T	ENST00000308624.5	+	9	791	c.662C>T	c.(661-663)tCc>tTc	p.S221F	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.S94F	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	221					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GACACCTTGTCCGTGCCTCTG	0.527000													35	101					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81666380	81666380	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:81666380G>A	ENST00000558726.1	-	1	174	c.39C>T	c.(37-39)atC>atT	p.I13I	TMC3_ENST00000359440.5_Silent_p.I13I			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	13						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CATTTCTCCGGATGCCTCTAT	0.552000													7	32					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917366	26917366	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:26917366C>T	ENST00000539517.2	-	5	1640	c.1323G>A	c.(1321-1323)ggG>ggA	p.G441G	NOVA1_ENST00000267422.7_Silent_p.G319G|NOVA1_ENST00000465357.2_Silent_p.G417G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	444	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTAATGTTTTCCCTCCTTTGC	0.433000													8	26					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772065	109772065	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:109772065C>T	ENST00000369923.4	+	4	329	c.318C>T	c.(316-318)gtC>gtT	p.V106V	SARS_ENST00000234677.2_Silent_p.V106V			P49591	SYSC_HUMAN	seryl-tRNA synthetase	106					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TCAAAAAAGTCCGACTCCTCA	0.502000													48	198					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609913	42609913	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:42609913G>A	ENST00000359486.3	-	1	1535	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	TCF20_ENST00000335626.4_Missense_Mutation_p.P467S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACAGTGTTAGGAAGATTGGCC	0.483000													61	59					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526129	176526129	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:176526129A>C	ENST00000367662.3	+	2	1835	c.671A>C	c.(670-672)aAg>aCg	p.K224T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K224T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	224					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTTGGCCCAAGCATTCCCTT	0.557000													29	84					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	889761	889761	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:889761G>A	ENST00000467963.1	-	4	568	c.400_splice	c.e4-1	p.A134_splice	BRD9_ENST00000323510.4_Silent_p.A18A|BRD9_ENST00000388890.4_Silent_p.A18A|BRD9_ENST00000483173.1_Splice_Site_p.P83_splice|BRD9_ENST00000435709.2_Silent_p.A18A	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	134							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCTCATTTTCGGCTGACAATT	0.468000													11	60					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563808	55563808	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55563808C>T	ENST00000335605.1	+	1	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCATCCTTTTCCTTTACTGTG	0.483000													16	56					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65561833	65561833	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:65561833G>A	ENST00000356388.4	-	3	468	c.279C>T	c.(277-279)gtC>gtT	p.V93V	SPRED2_ENST00000443619.2_Silent_p.V90V|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	93	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TCCTATTATCGACCTTCCAGT	0.458000													24	106					0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75185909	75185909	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:75185909G>A	ENST00000299432.2	-	5	794	c.729C>T	c.(727-729)ccC>ccT	p.P243P	MSS51_ENST00000372912.1_Silent_p.P243P	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	243							zinc ion binding										CTAGAGTCAAGGGCCGTGACA	0.572000													25	31					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197593054	197593054	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:197593054C>T	ENST00000438796.2	+	17	1881	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	LRCH3_ENST00000441090.2_Missense_Mutation_p.L459F|LRCH3_ENST00000414675.2_Missense_Mutation_p.L561F|LRCH3_ENST00000334859.4_Missense_Mutation_p.L613F|LRCH3_ENST00000425562.2_Missense_Mutation_p.L613F|LRCH3_ENST00000536618.1_Missense_Mutation_p.L208F			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	613						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TGAAAGCTTCCTTTTCCGAGC	0.453000													14	45					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36876823	36876823	+	Splice_Site	SNP	G	G	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:36876823G>T	ENST00000325718.7	+	15	2444		c.e15+1			NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCTCCCCAAGGTGAGGGGATC	0.692000			T	MLL	AL								4	11					2.0095e-06	2.03631e-06	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183387007	183387007	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:183387007C>T	ENST00000435564.1	-	1	297	c.97G>A	c.(97-99)Gga>Aga	p.G33R	PDE1A_ENST00000331935.6_Missense_Mutation_p.G33R|PDE1A_ENST00000410103.1_Missense_Mutation_p.G33R|PDE1A_ENST00000358139.2_Missense_Mutation_p.G33R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.G33R	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	33	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTCACATTCCTTTCAGGCGC	0.413000													20	51					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620489	14620489	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:14620489C>T	ENST00000403951.2	-	19	2029	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	DGKB_ENST00000406247.3_Missense_Mutation_p.G537E|DGKB_ENST00000258767.5_Missense_Mutation_p.G537E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G537E|DGKB_ENST00000402815.1_Missense_Mutation_p.G536E|DGKB_ENST00000407950.1_Missense_Mutation_p.G529E|DGKB_ENST00000444700.2_Missense_Mutation_p.G518E			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	537	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGCTTTACCTCCTCCCCATCG	0.433000													3	32					0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090279	56090279	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:56090279C>T	ENST00000325421.4	-	2	755	c.727G>A	c.(727-729)Ggc>Agc	p.G243S		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TTGAGCTCGCCCTTGGTGGCG	0.711000													4	9					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476441	57476441	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:57476441G>A	ENST00000371236.2	-	14	1858	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	DAB1_ENST00000414851.2_Missense_Mutation_p.S514F|DAB1_ENST00000371234.4_Missense_Mutation_p.S532F|DAB1_ENST00000371231.1_Missense_Mutation_p.S565F|DAB1_ENST00000439789.2_Missense_Mutation_p.S446F|DAB1_ENST00000420954.2_Missense_Mutation_p.S530F|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	565					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATCACTGTTGGATGAGGCCTG	0.438000													26	62					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	G	A	rs149331677	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:20404428G>A	ENST00000285600.4	+	1	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000													14	56					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21646062	21646062	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:21646062G>A	ENST00000328843.6	+	19	3698	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1223K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1223	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						TGAAAGATGGGAAACTACCAA	0.363000									Kartagener syndrome				4	10					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845058	32845058	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:32845058T>C	ENST00000311921.3	+	2	1514	c.1322T>C	c.(1321-1323)gTt>gCt	p.V441A	ZNF507_ENST00000544431.1_Missense_Mutation_p.V441A|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.V441A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATGGATGATGTTTATCGTGCT	0.453000													30	86					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652693	152652693	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:152652693G>A	ENST00000367255.5	-	78	13728	c.13127C>T	c.(13126-13128)cCt>cTt	p.P4376L	SYNE1_ENST00000448038.1_Missense_Mutation_p.P4305L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P4241L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P4305L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P4376L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4376					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATATCTGGAGGAGGGCTCTG	0.522000										HNSCC(10;0.0054)			8	28					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19653753	19653753	+	Missense_Mutation	SNP	G	G	A	rs146789008		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19653753G>A	ENST00000586018.1	+	6	1069	c.967G>A	c.(967-969)Ggg>Agg	p.G323R	CILP2_ENST00000291495.4_Missense_Mutation_p.G317R			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	317	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAAAGCCTCCGGGACCCCCAT	0.557000													24	84					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650897	71650897	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:71650897C>T	ENST00000409544.1	+	22	4883	c.4253C>T	c.(4252-4254)cCa>cTa	p.P1418L	ZNF638_ENST00000409407.1_Missense_Mutation_p.P358L|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1418L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1418					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAAAGTTTTCCAAAATCTGTG	0.398000													11	28					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38700891	38700891	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:38700891C>T	ENST00000379931.3	+	12	2621	c.2242C>T	c.(2242-2244)Cac>Tac	p.H748Y	TACC1_ENST00000520611.1_Missense_Mutation_p.H173Y|TACC1_ENST00000520615.1_Missense_Mutation_p.H541Y|TACC1_ENST00000518415.1_Missense_Mutation_p.H662Y|TACC1_ENST00000276520.8_Missense_Mutation_p.H326Y|TACC1_ENST00000317827.4_Missense_Mutation_p.H736Y|TACC1_ENST00000520973.1_Missense_Mutation_p.H512Y|TACC1_ENST00000443286.2_Missense_Mutation_p.H723Y|TACC1_ENST00000519416.1_Missense_Mutation_p.H540Y|TACC1_ENST00000330691.6_Missense_Mutation_p.H310Y|TACC1_ENST00000348567.4_Missense_Mutation_p.H298Y			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	736	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTGAAAATCCACGCAGAAGA	0.403000													46	75					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892591	892591	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:892591G>A	ENST00000327044.6	-	3	291	c.242C>T	c.(241-243)cCc>cTc	p.P81L	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	81						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GTAGAACTCGGGGTCTCTGTC	0.597000													18	81					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187683	152187683	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:152187683C>T	ENST00000368801.2	-	3	6497	c.6422G>A	c.(6421-6423)gGa>gAa	p.G2141E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2141					keratinization		calcium ion binding|protein binding	p.G2141E(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGACTGTCCTGATCTAGA	0.587000													33	1699					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100201320	100201320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:100201320C>T	ENST00000209668.2	-	7	1058	c.945G>A	c.(943-945)tgG>tgA	p.W315*	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	315					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TAGCTCCCTTCCAGGTACGTC	0.468000													27	127					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525363	248525363	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:248525363C>T	ENST00000366475.1	+	1	481	c.481C>T	c.(481-483)Cct>Tct	p.P161S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	161					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)			CATCTGCCATCCTCTCCGTTA	0.522000													50	153					0	0	1	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555198	22555198	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:22555198C>T	ENST00000390451.2	+	0	369																											TCATGGATTCCCAGCCTGGAG	0.488000													3	13					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655434	19655434	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19655434G>A	ENST00000586018.1	+	8	2200	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K	CILP2_ENST00000291495.4_Missense_Mutation_p.E694K			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	694						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGGAGGAGGAGAGCGGCTT	0.726000													4	10					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14067018	14067018	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14067018C>T	ENST00000254337.6	+	5	578	c.557C>T	c.(556-558)gCc>gTc	p.A186V		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	186										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGCACCGTGGCCGTGCCACCG	0.682000													10	18					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838224	20838224	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:20838224C>T	ENST00000402541.1	-	4	609	c.595G>A	c.(595-597)Gag>Aag	p.E199K	HS1BP3_ENST00000304031.3_Missense_Mutation_p.E199K			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	199	Poly-Glu.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGCGCCTCCTCCTCCTCC	0.582000													6	28					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947498	40947498	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:40947498G>A	ENST00000246914.5	+	15	3002	c.2981G>A	c.(2980-2982)cGg>cAg	p.R994Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	994					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCTCCTGCTCGGCCCCTCCCA	0.582000													35	111					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057632	9057632	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9057632C>T	ENST00000397910.4	-	3	30017	c.29814G>A	c.(29812-29814)gtG>gtA	p.V9938V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9940	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCACTTCAGTGA	0.448000													62	198					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633149	80633149	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:80633149C>T	ENST00000458043.2	+	10	961	c.955C>T	c.(955-957)Cct>Tct	p.P319S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P319S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGCAGTTTCCTTTTCTGAG	0.353000													19	45					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	957730	957730	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:957730G>A	ENST00000379370.2	+	2	401	c.351G>A	c.(349-351)gtG>gtA	p.V117V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	117	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCTTCTTTGTGAACCCTGCAC	0.602000													37	127					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137813998	137813998	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:137813998G>A	ENST00000409968.1	+	3	326	c.148G>A	c.(148-150)Gga>Aga	p.G50R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G19R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G50R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTCCGTGGGGAAGGTGTAC	0.473000													11	40					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260221	65260221	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:65260221C>T	ENST00000389722.3	-	13	2213	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E	SPTB_ENST00000556626.1_Silent_p.E720E|SPTB_ENST00000542895.1_Silent_p.E720E|SPTB_ENST00000389720.3_Silent_p.E720E|SPTB_ENST00000389721.5_Silent_p.E720E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	720					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCCGACACCTCCTTTATGC	0.592000													17	43					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60789818	60789818	+	Splice_Site	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:60789818A>C	ENST00000335670.6	-	11	1508	c.1407_splice	c.e11-1	p.L470_splice	RORA_ENST00000309157.4_Splice_Site_p.L495_splice|RORA_ENST00000261523.5_Splice_Site_p.L503_splice|RORA_ENST00000449337.2_Splice_Site_p.L415_splice|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	503	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTGCATATTAACTGTAAGTGA	0.388000													6	47					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38192009	38192009	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:38192009G>T	ENST00000394126.1	-	4	785	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	MED24_ENST00000501516.3_Missense_Mutation_p.L98M|MED24_ENST00000394128.2_Missense_Mutation_p.L98M|MED24_ENST00000394127.2_Missense_Mutation_p.L85M|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Missense_Mutation_p.L85M			O75448	MED24_HUMAN	mediator complex subunit 24	98					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ATGATGTCCAGCAATGCCTGG	0.527000													10	35					1.61879e-10	1.64625e-10	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122803822	122803822	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:122803822G>A	ENST00000358808.2	-	17	3444	c.3290C>T	c.(3289-3291)tCc>tTc	p.S1097F	CLIP1_ENST00000545889.1_Missense_Mutation_p.S683F|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1108F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S1062F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S986F|CLIP1_ENST00000302528.7_Missense_Mutation_p.S1097F	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1108					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCCTCCAAGGAGGCCAGAGT	0.398000													11	44					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65423339	65423339	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:65423339C>T	ENST00000519389.1	+	13	2552	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	HEPH_ENST00000336279.5_Silent_p.I470I|HEPH_ENST00000343002.2_Silent_p.I737I|HEPH_ENST00000374727.3_Silent_p.I740I|HEPH_ENST00000441993.2_Silent_p.I740I|HEPH_ENST00000419594.1_Silent_p.I548I			Q9BQS7	HEPH_HUMAN	hephaestin	737	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTACTATATCATGGCAGAAG	0.522000													8	5					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	649640	649640	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:649640G>A	ENST00000576778.1	-	1	2951	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	GEMIN4_ENST00000319004.5_Missense_Mutation_p.S548F			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	548					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCGGGCCACGGAGGCCACAGC	0.547000													17	30					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64972386	64972386	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:64972386T>G	ENST00000326648.3	+	6	3900	c.3772T>G	c.(3772-3774)Tcc>Gcc	p.S1258A		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1258						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCACAGGTTCCTACCTGCC	0.507000													17	66					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771432	143771432	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:143771432G>A	ENST00000408898.2	+	1	158	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	40					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)					TTCTGTTGGGGAACGGGACAA	0.542000													18	61					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625402	141625402	+	Splice_Site	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:141625402A>C	ENST00000389484.3	-	27	5307	c.4334_splice	c.e27-1	p.S1446_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1446					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGCATCTGACCTACAGAAA	0.358000										TSP Lung(27;0.18)			8	28					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660549	153660549	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:153660549C>T	ENST00000368680.3	+	15	2741	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	757	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCGGGTGACTCGGGGTGAGCA	0.662000													22	60					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3182321	3182321	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:3182321C>T	ENST00000251607.6	+	4	572	c.470C>T	c.(469-471)tCt>tTt	p.S157F	TRNT1_ENST00000280591.6_Missense_Mutation_p.S157F	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	157					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ACTATAAATTCTATGTTTTTA	0.368000													8	27					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415820	10415820	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:10415820G>A	ENST00000226207.5	-	12	1146	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	351	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTATAGATGGACACTCTTTC	0.438000													14	65					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508933	28508933	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:28508933C>T	ENST00000564831.1	+	2	2604	c.2571C>T	c.(2569-2571)ccC>ccT	p.P857P	APOBR_ENST00000328423.5_Silent_p.P848P|APOBR_ENST00000431282.1_Silent_p.P848P	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	848	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCTGGATCCCGCGGGCTCCC	0.632000													5	9					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37814036	37814036	+	Silent	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:37814036C>A	ENST00000336308.5	+	4	524	c.306C>A	c.(304-306)gcC>gcA	p.A102A	STARD3_ENST00000394250.4_Silent_p.A102A|STARD3_ENST00000580611.1_Silent_p.A76A|STARD3_ENST00000544210.2_Silent_p.A102A|STARD3_ENST00000578232.1_3'UTR	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	102	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGGTCCTGGCCTTCTTCCGCT	0.647000													25	72					2.46105e-21	2.51854e-21	1	1	0
EYA1	2138	broad.mit.edu	37	8	72211931	72211931	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:72211931C>T	ENST00000340726.3	-	8	1220	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_ENST00000419131.1_Missense_Mutation_p.G189E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388742.4_Missense_Mutation_p.G194E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTATATATTCCTGATGATGT	0.303000													19	83					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406365	55406365	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55406365G>A	ENST00000314612.2	+	1	532	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTACTTCTGTGATGTGTATCC	0.383000													12	42					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623122	80623122	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:80623122G>A	ENST00000458043.2	+	7	554	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	OTOGL_ENST00000547103.1_Missense_Mutation_p.R183Q	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAGGAAATTCGAATTTATGGT	0.353000													6	44					0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101259565	101259565	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:101259565C>T	ENST00000223167.4	-	6	645	c.468G>A	c.(466-468)gaG>gaA	p.E156E		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	156	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GAATGGTCTCCTCTGGGTCCG	0.587000													12	40					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574530	57574530	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:57574530C>T	ENST00000243077.3	+	33	5933	c.5467C>T	c.(5467-5469)Ctt>Ttt	p.L1823F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1823					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCCGTGGTCCTTCGGAACAG	0.647000													14	85					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137196	121137196	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:121137196C>T	ENST00000273666.6	+	27	3582	c.3311C>T	c.(3310-3312)tCg>tTg	p.S1104L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S1080L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1104					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGGGAAGCTTCGGCAGGAAAA	0.458000													3	20					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26552785	26552785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:26552785G>A	ENST00000256737.3	+	8	1623	c.771G>A	c.(769-771)tgG>tgA	p.W257*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.W241*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.W241*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.W111*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	257						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCAAAAACTGGATGGCCCAAA	0.443000													25	81					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2233846	2233846	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:2233846G>A	ENST00000301364.4	-	10	2812	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	578					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCAATCAAGGGTGTTCCTTG	0.468000													10	39					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87541219	87541219	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:87541219C>T	ENST00000521271.1	+	4	341	c.179C>T	c.(178-180)tCc>tTc	p.S60F	CPNE3_ENST00000198765.4_Missense_Mutation_p.S60F	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	60	C2 1.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CCCCAATTTTCCAAGACATTT	0.368000													24	40					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892590	892590	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:892590G>A	ENST00000327044.6	-	3	292	c.243C>T	c.(241-243)ccC>ccT	p.P81P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	81						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGTAGAACTCGGGGTCTCTGT	0.597000													18	82					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97870503	97870503	+	Silent	SNP	G	G	A	rs79739157		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:97870503G>A	ENST00000447648.2	-	7	1010	c.711C>T	c.(709-711)tcC>tcT	p.S237S	TECPR1_ENST00000542604.1_Silent_p.S167S|TECPR1_ENST00000379795.3_Silent_p.S237S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	237						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGTCCAGCAGGGACCAGGAGG	0.637000													15	58					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679089	148679089	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:148679089C>T	ENST00000296721.4	+	2	132	c.34C>T	c.(34-36)Cca>Tca	p.P12S	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P12S|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	12							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTGCTCCCAGAGCTCAC	0.642000													11	37					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434044	69434044	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:69434044C>T	ENST00000317746.2	-	1	201	c.159G>A	c.(157-159)gtG>gtA	p.V53V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	53					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCAACACAATCACCTCATGAC	0.403000													51	66					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96674610	96674610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:96674610G>A	ENST00000261211.3	-	16	2113	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	CDK17_ENST00000542666.1_Nonsense_Mutation_p.R451*|CDK17_ENST00000543119.2_Nonsense_Mutation_p.R504*	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	504							ATP binding|cyclin-dependent protein kinase activity	p.R504*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GAAGAATTTCGAAAACCCGGG	0.343000													5	20					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148220	93148220	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:93148220G>A	ENST00000298050.3	+	13	1678	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	CCDC67_ENST00000525646.1_Silent_p.S268S	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	526										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TGCCACCTTCGACATTTCAAG	0.413000													18	60					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981199	981199	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:981199C>T	ENST00000379370.2	+	15	2673	c.2623C>T	c.(2623-2625)Ccc>Tcc	p.P875S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	875	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGTGGCTGGACCCAAGTGTGG	0.672000													33	91					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63855103	63855103	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:63855103A>G	ENST00000536001.1	+	6	544	c.460A>G	c.(460-462)Aga>Gga	p.R154G	USP3_ENST00000559711.1_Silent_p.V130V|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000380324.3_Silent_p.V219V|USP3_ENST00000268049.7_Silent_p.V197V|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Silent_p.V202V|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Silent_p.V175V			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	0					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		GGTCTTTGGTAGAAGAGTTTA	0.423000													24	100					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736065	141736065	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:141736065C>T	ENST00000475668.2	+	17	2110	c.2056C>T	c.(2056-2058)Cac>Tac	p.H686Y	MGAM_ENST00000549489.2_Missense_Mutation_p.H686Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	686	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCTAGAAATCACAATGGCCA	0.478000													3	18					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452920	106452920	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:106452920C>T	ENST00000390594.2	-	0	165																											TCACTGAGGCCCCAGGCTTCT	0.592000													26	32					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35331759	35331759	+	Silent	SNP	G	G	A	rs139407093		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:35331759G>A	ENST00000373347.1	-	12	3133	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	DLGAP3_ENST00000235180.4_Silent_p.S955S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	955					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGTGGCGGAAGGAAGCGGCGC	0.746000													9	15					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102894633	102894633	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:102894633T>A	ENST00000230792.2	-	3	839	c.743A>T	c.(742-744)tAc>tTc	p.Y248F	NUDT12_ENST00000507423.1_Missense_Mutation_p.Y230F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	248						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATGAAGAAAGTAACAATTTTC	0.403000													7	26					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91653042	91653042	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:91653042C>T	ENST00000375835.4	-	11	1828	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SHC3_ENST00000375830.1_Missense_Mutation_p.E56K|SHC3_ENST00000375831.1_Missense_Mutation_p.E56K	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	508	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCTCTGCCTCCTTCCTGCTC	0.597000													69	197					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125279	104125279	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:104125279C>T	ENST00000259407.2	-	4	796	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	BAAT_ENST00000395051.3_Missense_Mutation_p.G230R	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	230					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGACTACCCCAACGCCTGAG	0.388000													11	41					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425033	113425033	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:113425033C>T	ENST00000392583.2	+	2	575	c.368C>T	c.(367-369)tCc>tTc	p.S123F	OAS2_ENST00000449768.2_Missense_Mutation_p.S123F|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.S123F	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	123	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCCAGAAGTCCCTTGATGGG	0.468000													6	45					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317917	19317917	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:19317917C>T	ENST00000461366.1	+	9	1167	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	318							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTCTTAGTTCGTGACTCATC	0.597000													9	29					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254006	158254006	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:158254006G>A	ENST00000296526.7	+	7	1243	c.918G>A	c.(916-918)gtG>gtA	p.V306V	GRIA2_ENST00000507898.1_Silent_p.V259V|GRIA2_ENST00000264426.9_Silent_p.V306V|GRIA2_ENST00000393815.2_Silent_p.V259V|GRIA2_ENST00000449365.1_Silent_p.V259V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	306					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCGTTCAAGTGATGACTGAAG	0.493000													30	91					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545246	234545246	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:234545246G>A	ENST00000344644.5	+	1	147	c.78G>A	c.(76-78)ggG>ggA	p.G26G	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.G26G	NM_019075.2	NP_061948.1												p.G26G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGAGGCAGGGAAGCTGCTGG	0.587000													22	84					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864570	30864570	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:30864570G>A	ENST00000403066.1	-	6	454	c.171C>T	c.(169-171)acC>acT	p.T57T	SEC14L3_ENST00000402286.1_Silent_p.T39T|SEC14L3_ENST00000539629.1_Silent_p.T57T|SEC14L3_ENST00000540910.1_Silent_p.T39T|SEC14L3_ENST00000215812.4_Silent_p.T116T|SEC14L3_ENST00000401751.1_Silent_p.T57T|SEC14L3_ENST00000415957.2_Silent_p.T57T			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	116						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GGTCCTGCTTGGTGACTGAGA	0.592000													39	46					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953277	140953277	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140953277G>A	ENST00000253811.6	-	16	2280	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S	DIAPH1_ENST00000389057.5_Missense_Mutation_p.P705S|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P660S|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P705S|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P705S|DIAPH1_ENST00000398562.2_Missense_Mutation_p.P693S|DIAPH1_ENST00000398557.4_Missense_Mutation_p.P714S|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P714S			O60610	DIAP1_HUMAN	diaphanous-related formin 1	714	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGGTGGCATTCCTGCT	0.622000													4	7					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67372671	67372671	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:67372671C>T	ENST00000396623.3	+	13	1322	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	ADHFE1_ENST00000496501.1_3'UTR|C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.P383S	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	431					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.P383fs*3(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGCTGATATCCCCGCACTAGT	0.542000													28	119					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881867	92881867	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92881867G>A	ENST00000326402.4	-	11	1481	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	SLC36A4_ENST00000529184.1_Silent_p.L316L	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	451					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATATTTTTCAGGACCATCCAT	0.373000													13	55					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889975	30889975	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:30889975G>A	ENST00000475541.1	-	1	1256	c.324C>T	c.(322-324)tcC>tcT	p.S108S	PURG_ENST00000339382.2_Silent_p.S108S	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	108						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCACAGACAGGGAGAGGGTCA	0.582000													16	81					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316828	45316828	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:45316828G>A	ENST00000391955.1	+	6	779	c.735G>A	c.(733-735)gaG>gaA	p.E245E	BCAM_ENST00000270233.6_Silent_p.E245E			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	245	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCCTGCCCGAGGGCCGCCACG	0.672000													27	110					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30862850	30862850	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:30862850G>A	ENST00000251071.5	-	18	4120	c.3370C>T	c.(3370-3372)Ctt>Ttt	p.L1124F	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.L790F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.L1074F|CAPRIN2_ENST00000395805.2_3'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	1124	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTTGATAAAGAAGATAGCCT	0.393000													18	50					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491986	30491986	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:30491986G>A	ENST00000222823.4	-	6	1572	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	349	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGAAGCCCCGGAGAAGCACCT	0.677000													16	40					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566869	4566869	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:4566869C>T	ENST00000360213.1	+	1	449	c.449C>T	c.(448-450)tCt>tTt	p.S150F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGTTTCTCTCCTCCGG	0.527000													22	59					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967420	81967420	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:81967420C>T	ENST00000282701.2	+	2	1165	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	282					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCTGCCCTTTCCATTGAGCGG	0.507000													20	70					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69970276	69970276	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:69970276G>A	ENST00000359154.2	+	19	2139	c.2038G>A	c.(2038-2040)Ggc>Agc	p.G680S	WWP2_ENST00000542271.1_Missense_Mutation_p.G564S|WWP2_ENST00000448661.1_Missense_Mutation_p.G680S|WWP2_ENST00000356003.2_Missense_Mutation_p.G680S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Missense_Mutation_p.G241S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	680	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAGATACTGGGCAAGGTGAC	0.582000													20	34					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13615286	13615286	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:13615286C>T	ENST00000040738.5	-	5	1310		c.e5-1			NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1								DNA binding										AAAGAGAAATCTTCAAGCGGA	0.313000													9	11					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637199	18637199	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:18637199G>A	ENST00000336349.5	-	3	857	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	208										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTTCGTTCAAGGAATTCTCGC	0.443000													26	103					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532636	71532636	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:71532636G>A	ENST00000265382.3	+	9	1249	c.944G>A	c.(943-945)gGg>gAg	p.G315E	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G315E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	315	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CAGGGTCCAGGGAAATCTGGA	0.527000													13	54					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789438	31789438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:31789438G>A	ENST00000396556.2	-	5	1026	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.Q238*|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	302					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGCCCGCCTGGTGCACACTC	0.612000													27	105					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275455	77275455	+	Missense_Mutation	SNP	G	G	A	rs143581712		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:77275455G>A	ENST00000251089.2	-	2	708	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCCCTCAAAGGGCCAGATGGA	0.602000													7	23					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044427	33044427	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:33044427G>A	ENST00000286835.7	-	20	3111	c.2729C>T	c.(2728-2730)cCa>cTa	p.P910L	SCAF4_ENST00000399804.1_Missense_Mutation_p.P888L|SCAF4_ENST00000434667.3_Missense_Mutation_p.P895L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	910						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCCATGCGGTGGGAAGGGACC	0.667000													18	48					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183091	55183091	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:55183091C>T	ENST00000337714.3	+	2	499	c.266C>T	c.(265-267)cCt>cTt	p.P89L	AKAP1_ENST00000571629.1_Missense_Mutation_p.P89L|AKAP1_ENST00000314126.3_Missense_Mutation_p.P89L|AKAP1_ENST00000572557.1_Missense_Mutation_p.P89L|AKAP1_ENST00000539273.1_Missense_Mutation_p.P89L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	89					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGCAAGCTGCCTGCAGAGCCC	0.572000													7	37					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771389	118771389	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:118771389G>A	ENST00000334801.3	-	6	4027	c.3063C>T	c.(3061-3063)tcC>tcT	p.S1021S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1021	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTTGTTCTGGGAGACCCCCG	0.632000													30	124					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17764938	17764938	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:17764938G>A	ENST00000378814.5	-	37	4676	c.4677C>T	c.(4675-4677)gcC>gcT	p.A1559A	KIF13A_ENST00000378843.2_Silent_p.A1559A|KIF13A_ENST00000378826.2_Silent_p.A1572A|KIF13A_ENST00000378816.5_Silent_p.A1572A|KIF13A_ENST00000259711.6_Silent_p.A1607A	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1607					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGACAGGGTGGCATTGGAGG	0.542000													4	10					0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96124332	96124332	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:96124332C>T	ENST00000296754.3	-	11	1838	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	ERAP1_ENST00000443439.2_Silent_p.Q527Q	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	527					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GAAAACCCTTCTGCAGTGTCC	0.507000													12	32					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997400	115997400	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:115997400C>T	ENST00000264363.2	-	2	1471	c.793G>A	c.(793-795)Gga>Aga	p.G265R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	265	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCTGAATTCCATCATGAAGC	0.433000													33	93					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145616925	145616925	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:145616925C>T	ENST00000265271.5	+	8	1375	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	RBM27_ENST00000506502.1_Silent_p.P403P	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	403	Pro-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCAGTGCCCAATCTTGCAT	0.428000													30	63					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231349659	231349659	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:231349659C>T	ENST00000444294.3	+	9	3074	c.2216C>T	c.(2215-2217)cCc>cTc	p.P739L	TRIM67_ENST00000366653.5_Missense_Mutation_p.P741L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P741L|TRIM67_ENST00000449018.3_Missense_Mutation_p.P679L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	741	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAGCAGGGCCCCACAGCCTTC	0.647000													12	50					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75040305	75040305	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:75040305T>A	ENST00000395759.2	+	2	253	c.226T>A	c.(226-228)Tcc>Acc	p.S76T	MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.S18T|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.S18T	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	18					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATCATGGGTTTCCCTTGGAAA	0.423000													9	23					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154735476	154735476	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:154735476C>T	ENST00000607772.1	-	10	1571	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	CNKSR3_ENST00000479339.1_Missense_Mutation_p.D263N|CNKSR3_ENST00000433165.2_Missense_Mutation_p.D168N	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	343	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATATAAAGATCCAGGATGGCT	0.498000													21	26					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392081	178392081	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:178392081C>T	ENST00000320129.3	+	5	979	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.H226Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAAAGCCTTTCACCAGAGTAC	0.373000													23	64					0	0	1	0	0
PUS3	83480	broad.mit.edu	37	11	125763873	125763873	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:125763873G>A	ENST00000227474.3	-	4	1350	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.P418L	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	418						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTGGCATTTAGGACGGTCCAT	0.468000													32	126					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179516	59179516	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:59179516G>A	ENST00000380516.2	-	18	2686	c.2599C>T	c.(2599-2601)Cct>Tct	p.P867S	SLTM_ENST00000536328.1_Missense_Mutation_p.P436S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	867	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATGTCTAGGATGAGTGATA	0.502000													20	72					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34021881	34021881	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:34021881C>T	ENST00000374372.1	-	4	1835	c.1332G>A	c.(1330-1332)acG>acA	p.T444T	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Silent_p.T444T			P43026	GDF5_HUMAN	growth differentiation factor 5	444					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGCATGATTCGTGGGCTCCA	0.612000													12	29					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823710	47823710	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:47823710C>T	ENST00000355085.3	+	2	698	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	226					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CACTTTCATCCTGCTCCGGAC	0.612000													38	106					0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153855435	153855435	+	Silent	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:153855435T>A	ENST00000231121.2	-	2	834	c.579A>T	c.(577-579)ccA>ccT	p.P193P		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	193					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCTCGACTGGGCCCAGGG	0.597000													15	54					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10036179	10036179	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:10036179G>A	ENST00000378380.3	+	10	2531	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.E734E|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CAACAGCAGAGCTGATCAGGA	0.438000													11	34					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31590456	31590456	+	Silent	SNP	G	G	A	rs6120080		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:31590456G>A	ENST00000356173.3	-	3	240	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	SUN5_ENST00000375523.3_Intron|SUN5_ENST00000375519.2_Silent_p.L50L	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	50					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						ACAGGCAACAGGATGTTGTCA	0.507000													9	36					0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58059143	58059143	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:58059143G>A	ENST00000325134.5	-	3	529	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.L116F|ZNF550_ENST00000457177.1_Missense_Mutation_p.L157F			Q7Z398	ZN550_HUMAN	zinc finger protein 550	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACCTTCAAGGCTCACTTTC	0.507000													69	286					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730382	15730382	+	RNA	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15730382G>A	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GACGGGACGGGGACCAACTTT	0.532000													3	27					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571761	19571761	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:19571761C>T	ENST00000507958.1	-	10	2170	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	CDH18_ENST00000502796.1_Missense_Mutation_p.E394K|CDH18_ENST00000506372.1_Missense_Mutation_p.E394K|CDH18_ENST00000382275.1_Missense_Mutation_p.E394K|CDH18_ENST00000511273.1_Missense_Mutation_p.E394K|CDH18_ENST00000274170.4_Missense_Mutation_p.E394K			Q13634	CAD18_HUMAN	cadherin 18, type 2	394	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTGGCATTTTCGTAGACTTCC	0.433000													15	55					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249974	52249974	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:52249974G>A	ENST00000595042.1	-	3	415	c.274C>T	c.(274-276)Cct>Tct	p.P92S	FPR1_ENST00000304748.4_Missense_Mutation_p.P92S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	92					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGCCGAAAGGCCAATGTCCT	0.517000													17	62					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216331	55216331	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:55216331C>T	ENST00000340465.2	+	5	737	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	217						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGTTCCACCCCCTACTTGCC	0.428000													14	52					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24304759	24304759	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:24304759C>T	ENST00000175238.6	+	3	300	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	ADAM7_ENST00000441335.2_Missense_Mutation_p.H73Y|ADAM7_ENST00000380789.1_Missense_Mutation_p.H73Y|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	73					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)		CTTAGTCCTTCATCTTCTAAG	0.338000													7	62					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616352	22616352	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:22616352C>T	ENST00000390457.2	+	0	190																											TTCTAAGCATCCAAGAGGGAG	0.512000													10	35					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991317	28991317	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:28991317G>A	ENST00000359747.4	+	14	2347	c.2318G>A	c.(2317-2319)gGg>gAg	p.G773E	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G754E|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	754					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ggagcctcaggggccgcaAGG	0.622000													9	48					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037036	48037036	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:48037036G>A	ENST00000295461.5	+	5	666	c.600G>A	c.(598-600)atG>atA	p.M200I	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	200						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TGCATGAAATGGAAATGAAAT	0.388000													11	52					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94597	94597	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:94597C>T	ENST00000447903.2	-	3	334	c.19G>A	c.(19-21)Ggg>Agg	p.G7R	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Silent_p.R42R|TUBB8_ENST00000309812.4_Missense_Mutation_p.G79R			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	79					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CCGAAGGGCCCCGAGCGCACA	0.672000													22	55					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952676	33952676	+	RNA	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:33952676G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GTGGTCGCGGGAACGGCCGTG	0.637000													7	32					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627798	234627798	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:234627798C>T	ENST00000373409.3	+	1	375	c.332C>T	c.(331-333)tCt>tTt	p.S111F	UGT1A8_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1												p.S111Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AAGAGATATTCTAGAAGTATG	0.448000													29	112					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577751	92577751	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92577751G>A	ENST00000298047.6	+	18	11235	c.11218G>A	c.(11218-11220)Gag>Aag	p.E3740K	FAT3_ENST00000409404.2_Missense_Mutation_p.E3740K|FAT3_ENST00000533797.1_Missense_Mutation_p.E75K|FAT3_ENST00000525166.1_Missense_Mutation_p.E3590K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3740					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCCATCTTGGAGAAGAACTG	0.537000										TCGA Ovarian(4;0.039)			7	19					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24734549	24734549	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:24734549C>T	ENST00000379068.3	+	7	639	c.596C>T	c.(595-597)cCt>cTt	p.P199L	POLA1_ENST00000379059.3_Missense_Mutation_p.P193L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	193					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TCACCGAATCCTTTCTCTGTG	0.388000													9	5					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525595	150525595	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:150525595G>A	ENST00000271643.4	+	5	536	c.300G>A	c.(298-300)caG>caA	p.Q100Q	ADAMTSL4_ENST00000369039.5_Silent_p.Q100Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.Q100Q|ADAMTSL4_ENST00000369041.5_Silent_p.Q100Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	100					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCGGGGCCAGGGTCCCAGAC	0.667000													7	51					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27356218	27356218	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:27356218G>A	ENST00000395762.2	+	5	497	c.238G>A	c.(238-240)Gga>Aga	p.G80R	IL4R_ENST00000170630.2_Missense_Mutation_p.G80R|IL4R_ENST00000449195.1_Missense_Mutation_p.G80R|IL4R_ENST00000543915.2_Missense_Mutation_p.G80R|IL4R_ENST00000380922.3_Missense_Mutation_p.G65R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	80					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.G80*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGAGAACAACGGAGGCGCGGG	0.627000													13	43					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64122706	64122706	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:64122706C>T	ENST00000359902.2	+	12	1604	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	CCDC88B_ENST00000356786.5_Silent_p.S1380S|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_Silent_p.S43S			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1333					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCAGAGCTCCCTCTGCCTGC	0.672000													3	12					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818288	7818288	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:7818288C>T	ENST00000329434.2	-	1	232	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A68S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGAATAGGCCATGTCAGCA	0.438000													23	63					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41385271	41385271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:41385271C>T	ENST00000373198.3	-	6	925	c.690G>A	c.(688-690)tgG>tgA	p.W230*	PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W230*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W230*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	230	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCTGCCATTCCATTGCTGCA	0.577000													7	10					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236283	33236283	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:33236283C>T	ENST00000401073.2	+	6	1573	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	KIAA1522_ENST00000373480.1_Silent_p.P442P|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.P453P	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	442	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CACCCCCTCCCCGCCGGACCC	0.652000													7	15					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558548	129558548	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:129558548C>T	ENST00000422113.2	-	9	3498	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E596K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1058						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGGGGTACTCGTCGTCTGAG	0.512000													26	82					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672684	113672684	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:113672684C>T	ENST00000330212.3	+	3	598	c.299C>T	c.(298-300)cCt>cTt	p.P100L	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P94L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	100						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTCCTGCTGCCTGTCTTCCTT	0.512000													41	149					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99358187	99358187	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:99358187C>T	ENST00000408927.3	+	14	1777	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.S506F|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.S507F|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.S556F|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.S555F|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.S464F	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	555							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AAATATAATTCCATGGTCCTG	0.343000			T	NUP98	T-ALL								7	19					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325191	150325191	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:150325191C>T	ENST00000328902.5	-	3	711	c.495G>A	c.(493-495)aaG>aaA	p.K165K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	165							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGTCTTCCTTCCGGGTGA	0.627000													36	144					0	0	1	0	0
GSK3A	2931	broad.mit.edu	37	19	42740826	42740826	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:42740826C>T	ENST00000398249.4	-	3	2065	c.352G>A	c.(352-354)Gag>Aag	p.E118K	AC006486.9_ENST00000594664.1_Missense_Mutation_p.E113K|GSK3A_ENST00000222330.3_Missense_Mutation_p.E200K			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	200					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TACACTGTCTCGGGCACATAT	0.572000													22	82					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120285521	120285521	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:120285521C>A	ENST00000369407.3	+	10	2706	c.1199C>A	c.(1198-1200)gCt>gAt	p.A400D	PHGDH_ENST00000369409.4_Missense_Mutation_p.A434D|PHGDH_ENST00000482968.1_3'UTR			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	434					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTTACCAGGCTGTGGGCTTG	0.657000													12	45					2.27111e-07	2.30552e-07	1	1	0
ACSF2	80221	broad.mit.edu	37	17	48539889	48539889	+	Silent	SNP	C	C	T	rs141937528		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:48539889C>T	ENST00000427954.2	+	7	853	c.810C>T	c.(808-810)ctC>ctT	p.L270L	ACSF2_ENST00000502667.1_Silent_p.L232L|ACSF2_ENST00000504392.1_Silent_p.L202L|ACSF2_ENST00000300441.4_Silent_p.L245L|ACSF2_ENST00000541920.1_Silent_p.L85L			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	245					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGACCAGCTCCAATACAACC	0.602000													13	51					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204725	43204725	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:43204725G>A	ENST00000255226.6	+	2	912	c.96G>A	c.(94-96)tcG>tcA	p.S32S	SLC14A2_ENST00000586448.1_Silent_p.S32S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	32						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGGCCCTCGACATCCCCGG	0.572000													23	79					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909622	123909622	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:123909622G>A	ENST00000330487.5	-	1	95	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAACCACCAGGAAGATTCCAA	0.562000													9	80					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44048200	44048200	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:44048200C>T	ENST00000279036.6	+	5	731	c.651C>T	c.(649-651)tcC>tcT	p.S217S	PIGT_ENST00000341555.5_Intron|PIGT_ENST00000543458.2_Silent_p.S161S|PIGT_ENST00000372689.5_Silent_p.S217S|PIGT_ENST00000279035.9_Silent_p.S115S|PIGT_ENST00000535404.1_Silent_p.S62S|PIGT_ENST00000545755.1_5'UTR	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	217					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCTACCACTCCCAGGCAGTGC	0.542000													39	110					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214051	11214051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:11214051C>T	ENST00000533467.1	-	1	842	c.843G>A	c.(841-843)tgG>tgA	p.W281*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	281					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTTGTTTCCCCAAATCAGGA	0.428000													20	168					0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51483677	51483677	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51483677C>T	ENST00000391807.1	-	4	389	c.288G>A	c.(286-288)tcG>tcA	p.S96S	KLK7_ENST00000597707.1_Silent_p.S24S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Silent_p.S96S|KLK7_ENST00000336317.4_5'UTR	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	96	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GGAATGACTTCGAGGCCTTGA	0.552000													11	38					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1101936	1101936	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:1101936G>A	ENST00000441003.2	+	43	7727	c.7700G>A	c.(7699-7701)gGg>gAg	p.G2567E		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4929						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGTTCACGGGAATGCTGAG	0.677000													4	18					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122296618	122296618	+	Translation_Start_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:122296618G>A	ENST00000543163.1	-	0	333				HPD_ENST00000289004.4_Splice_Site_p.T2_splice	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ACTGTAAGTCGTCTAAGGAGA	0.527000													17	44					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48156191	48156191	+	Missense_Mutation	SNP	G	G	T	rs139965033	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:48156191G>T	ENST00000244043.4	-	5	618	c.589C>A	c.(589-591)Cgc>Agc	p.R197S	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	197					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAGTGGACGCGGTCCTGGGCC	0.647000													6	17					0.217242	0.217624	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113237052	113237052	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:113237052C>T	ENST00000297405.5	-	71	11316	c.11072G>A	c.(11071-11073)gGg>gAg	p.G3691E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3621E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3651E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3522E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3691						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCGCCTTCCCTTCCACTGA	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			74	114					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263364	1263364	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:1263364G>A	ENST00000447027.1	+	31	5321	c.5263G>A	c.(5263-5265)Gag>Aag	p.E1755K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E1752K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1752	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCACGAGCGAGCTGTCCAC	0.637000													7	21					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32406923	32406923	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:32406923T>C	ENST00000265069.8	-	6	1090	c.988A>G	c.(988-990)Att>Gtt	p.I330V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	330					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CAATAGTGAATCTGTGGTGGT	0.428000													21	69					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46939362	46939362	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:46939362G>A	ENST00000313049.5	+	4	534	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Missense_Mutation_p.E111K|PTH1R_ENST00000418619.1_Missense_Mutation_p.E111K|PTH1R_ENST00000449590.1_Missense_Mutation_p.E111K			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	111						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CTGTCTGCCGGAATGGGACCA	0.577000													8	31					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155526015	155526015	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:155526015C>T	ENST00000336098.3	-	9	1371	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	FGG_ENST00000407946.1_Missense_Mutation_p.D453N|FGG_ENST00000405164.1_Intron|FGG_ENST00000404648.3_Intron	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	445					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAAAGTGAGTCATATTCTGTT	0.428000													17	95					0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161332149	161332149	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:161332149C>T	ENST00000367975.2	+	6	585	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.S91F|SDHC_ENST00000432287.2_Missense_Mutation_p.P112S|SDHC_ENST00000513009.1_Missense_Mutation_p.S57F|SDHC_ENST00000392169.2_Missense_Mutation_p.P93S	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	146					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CCTGAAGATTCCCCAGCTATA	0.448000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				4	19					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026119	176026119	+	Silent	SNP	T	T	C	rs142779818	by1000genomes	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:176026119T>C	ENST00000303991.4	-	2	894	c.717A>G	c.(715-717)agA>agG	p.R239R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	239						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCACCTTTCTCAAAGACC	0.488000													31	112					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505192	158505192	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:158505192A>G	ENST00000355585.4	+	22	3269	c.3194A>G	c.(3193-3195)cAt>cGt	p.H1065R	SYNJ2_ENST00000367121.3_Missense_Mutation_p.H1065R|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H150R|SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1065R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1065							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGAAGCAGCATCCAACGTAC	0.557000													27	92					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179137274	179137274	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:179137274G>A	ENST00000232564.3	-	4	402	c.116C>T	c.(115-117)tCt>tTt	p.S39F	GNB4_ENST00000468623.1_Missense_Mutation_p.S39F	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	39					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TCGACCCACAGAGTCCATATT	0.383000													14	76					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	436390	436390	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:436390G>A	ENST00000264554.6	-	6	815	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	272	PID.			I -> E (in Ref. 3).	insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTGGTTGATGGGGTCCT	0.721000													15	48					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600791	29600791	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:29600791C>T	ENST00000431530.3	+	1	2044	c.1986C>T	c.(1984-1986)ccC>ccT	p.P662P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	652	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAGGAATCCCCAGGCCCTGG	0.567000													4	18					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253548	55253548	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:55253548A>T	ENST00000337526.6	-	3	1930	c.1687T>A	c.(1687-1689)Ttg>Atg	p.L563M	RTN4_ENST00000357376.3_Missense_Mutation_p.L357M|RTN4_ENST00000405240.1_Missense_Mutation_p.L357M|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.L357M|RTN4_ENST00000354474.6_Missense_Mutation_p.L331M|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.L357M|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	563					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ACTTCATTCAATTCACTTTCA	0.403000													19	51					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2698040	2698040	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:2698040C>T	ENST00000258796.7	+	12	1576	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	TTYH3_ENST00000403167.1_Silent_p.T286T|TTYH3_ENST00000407643.1_Silent_p.T425T	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	457						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCAGTGAGACCAGCATCCCGG	0.687000													5	21					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623892	25623892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:25623892G>A	ENST00000398215.2	+	4	417	c.246G>A	c.(244-246)tgG>tgA	p.W82*		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	82	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACCCCCGCTGGGACTCATGGA	0.612000													24	65					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	50971419	50971419	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:50971419G>A	ENST00000266037.9	+	5	249	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	76						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TAGGCAGTATGAAACTGTGGT	0.393000													5	15					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875430	27875430	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:27875430C>T	ENST00000374011.2	-	6	4165	c.3197G>A	c.(3196-3198)gGt>gAt	p.G1066D	AHDC1_ENST00000247087.5_Missense_Mutation_p.G1066D|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1066							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CATGTAGCCACCGGGCGAGAC	0.672000													5	12					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30510808	30510808	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:30510808G>A	ENST00000375938.4	+	8	869	c.616G>A	c.(616-618)Gag>Aag	p.E206K	TTLL9_ENST00000375921.2_Missense_Mutation_p.E133K|TTLL9_ENST00000310998.4_Missense_Mutation_p.E156K|TTLL9_ENST00000535842.1_Missense_Mutation_p.E206K|TTLL9_ENST00000375922.4_Missense_Mutation_p.E133K|TTLL9_ENST00000375934.4_Missense_Mutation_p.E188K			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	206	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATTCCCGTGGAGAACTATGT	0.398000													18	71					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113564878	113564878	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:113564878C>T	ENST00000297405.5	-	26	4550	c.4306G>A	c.(4306-4308)Gac>Aac	p.D1436N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1436N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1396N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1332N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1436	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTATTGTCATATGGAAAA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	37					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969138	235969138	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:235969138G>A	ENST00000389794.3	-	6	3472	c.3298C>T	c.(3298-3300)Ctt>Ttt	p.L1100F	LYST_ENST00000536965.1_Missense_Mutation_p.L1100F|LYST_ENST00000389793.2_Missense_Mutation_p.L1100F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1100					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATACTTTGAAGTGAGGTCTCA	0.418000													13	44					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940758	144940758	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:144940758C>T	ENST00000525985.1	-	2	6735	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S				P58107	EPIPL_HUMAN	epiplakin 1	2222						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGGTGCCCTCCAGGTAG	0.647000													29	170					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70263215	70263215	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:70263215A>T	ENST00000301843.8	+	8	760	c.554A>T	c.(553-555)cAc>cTc	p.H185L	CTTN_ENST00000376561.3_Missense_Mutation_p.H185L|CTTN_ENST00000346329.3_Missense_Mutation_p.H185L	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	185						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACGGAGAAGCACGAGTCACAG	0.582000													22	50					0	0	1	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27503057	27503057	+	Missense_Mutation	SNP	G	G	A	rs151006541	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:27503057G>A	ENST00000296097.3	+	6	962	c.544G>A	c.(544-546)Gag>Aag	p.E182K	DNAJC5G_ENST00000406962.1_Silent_p.A94A|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.E166K|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.E182K	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	182					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E182K(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTAGAAGCGAGGAAAATAG	0.338000											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	123					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624931	48624931	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:48624931C>T	ENST00000328333.8	-	22	3021	c.2914G>A	c.(2914-2916)Gtg>Atg	p.V972M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V972M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	972	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCAAAGTCACCGAGTCGATC	0.577000													11	42					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802347	24802347	+	Missense_Mutation	SNP	C	C	T	rs35474263	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:24802347C>T	ENST00000395799.3	+	6	2513	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S795F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	795	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGGGAGATTCCAAAGGCTCA	0.512000													11	27					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123974	99123974	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:99123974G>A	ENST00000394170.2	+	6	1562	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	ZKSCAN5_ENST00000451158.1_Silent_p.K437K|ZKSCAN5_ENST00000326775.5_Silent_p.K437K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	437					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGTGTGGGAAGAACTTCGGTC	0.537000													69	189					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191145	66191145	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:66191145G>A	ENST00000311034.2	+	6	1081	c.905G>A	c.(904-906)gGt>gAt	p.G302D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	302	PAC.				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						TACTCAGAAGGTCCAGAGGGA	0.537000													26	61					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609706	84609706	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:84609706G>A	ENST00000344803.2	+	4	4368	c.4321G>A	c.(4321-4323)Gct>Act	p.A1441T		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GCTTGGGAAAGCTCAGCACAA	0.552000													10	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073956	9073956	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9073956A>C	ENST00000397910.4	-	3	13693	c.13490T>G	c.(13489-13491)tTg>tGg	p.L4497W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4499	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGTGTTCAACATATCTGT	0.453000													21	74					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241018	3241018	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:3241018C>T	ENST00000217939.6	-	5	2862	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	903						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGGTCTCCTTCAGTGGA	0.458000													19	17					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84367239	84367239	+	Splice_Site	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:84367239A>G	ENST00000295488.3	-	5	1555	c.1392_splice	c.e5-1	p.L465_splice	HELQ_ENST00000510985.1_Splice_Site_p.L398_splice	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	465	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATCATGTGCAACTTCGAGATT	0.343000								Other identified genes with known or suspected DNA repair function					16	34					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618383	28618383	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:28618383G>A	ENST00000395609.1	-	7	1146	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	SULT1A1_ENST00000569554.1_Missense_Mutation_p.R130C|SULT1A1_ENST00000395607.1_Missense_Mutation_p.R130C|SULT1A1_ENST00000350842.4_Missense_Mutation_p.R52C|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R130C			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	130					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TTTGCGTTGCGGGCAACATAG	0.567000													19	49					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39867948	39867948	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:39867948C>T	ENST00000538976.1	+	23	2954	c.2772C>T	c.(2770-2772)tcC>tcT	p.S924S	DAAM2_ENST00000398904.2_Silent_p.S925S|DAAM2_ENST00000274867.4_Silent_p.S925S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	925	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCAGCTTCTCCGAGCTGGAGG	0.572000													4	11					0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431861	31431861	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:31431861C>T	ENST00000414046.2	+	0	933					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						ggaccttctaccctgcagagt	0.488000													14	54					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124848330	124848330	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:124848330C>T	ENST00000356219.3	-	22	2978	c.2823G>A	c.(2821-2823)agG>agA	p.R941R	NCOR2_ENST00000405201.1_Silent_p.R941R|NCOR2_ENST00000404121.2_Silent_p.R494R|NCOR2_ENST00000397355.1_Silent_p.R924R|NCOR2_ENST00000429285.2_Silent_p.R923R|NCOR2_ENST00000404621.1_Silent_p.R923R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	941					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGGCTGGGCCTTGGGGACA	0.701000													11	82					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624932	48624932	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:48624932C>T	ENST00000328333.8	-	22	3020	c.2913G>A	c.(2911-2913)tcG>tcA	p.S971S	COL7A1_ENST00000454817.1_Silent_p.S971S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	971	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAAAGTCACCGAGTCGATCG	0.577000													11	41					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14902032	14902032	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:14902032T>A	ENST00000334636.5	-	3	696	c.650A>T	c.(649-651)aAt>aTt	p.N217I	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	217					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TAGTTCCACATTTTCACTAAA	0.388000													15	41					0	0	1	0	0
CASP3	836	broad.mit.edu	37	4	185552963	185552963	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:185552963G>A	ENST00000308394.4	-	6	701	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	CASP3_ENST00000523916.1_Missense_Mutation_p.R147C|CASP3_ENST00000517513.1_Missense_Mutation_p.R147C|CASP3_ENST00000393585.2_Missense_Mutation_p.R147C|CASP3_ENST00000393588.4_Missense_Mutation_p.R147C	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	147					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CTTCTACAACGATCCCCTCTG	0.363000													10	47					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104783	5104783	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:5104783C>T	ENST00000396912.1	+	5	2215	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.P566S|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	566	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAAGAGAAACCTTATGGATG	0.373000													16	39					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133914439	133914439	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:133914439G>A	ENST00000361069.4	+	5	1298	c.1165_splice	c.e5+1	p.G389_splice	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	389	Laminin EGF-like 3.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGTCGGCAGGTGAGTGGAC	0.627000													7	37					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82455910	82455910	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:82455910C>A	ENST00000423517.2	-	18	14747	c.14410G>T	c.(14410-14412)Ggg>Tgg	p.G4804W	PCLO_ENST00000333891.8_Missense_Mutation_p.G4804W|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4666					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4804W(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTACCTCCCCAAGGAAGTCG	0.378000													16	60					1.56452e-12	1.59391e-12	1	1	0
NBPF18P	441908	broad.mit.edu	37	1	151993687	151993687	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:151993687C>T	ENST00000432386.1	+	0	2522					NR_103561.1																						CGAGAGCTGGCCTGGTTAAGG	0.478000													11	68					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39913974	39913974	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:39913974G>A	ENST00000393931.3	-	11	1954	c.1836C>T	c.(1834-1836)gcC>gcT	p.A612A	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.A612A|JUP_ENST00000310706.5_Silent_p.A612A	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	612					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCTTGTCCTGGGCCAGCTCAC	0.677000													6	25					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700856	192700856	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:192700856C>T	ENST00000304141.4	-	2	1400	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	357						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGTCGCCTTCTCAGCAGCCT	0.572000													28	130					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043304	56043304	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:56043304G>A	ENST00000313033.2	+	1	276	c.190G>A	c.(190-192)Gat>Aat	p.D64N		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GATCATTGGGGATTTCTGGCT	0.353000													8	49					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478222	134478222	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:134478222G>C	ENST00000319914.5	-	5	1445	c.418C>G	c.(418-420)Cgg>Ggg	p.R140G	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R140G|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R140G|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R140G			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	140					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCGCAGCGCCGGCAGCCCACC	0.572000													27	53					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14808037	14808037	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:14808037C>T	ENST00000380881.4	-	18	3807	c.2992G>A	c.(2992-2994)Gga>Aga	p.G998R	FREM1_ENST00000422223.2_Missense_Mutation_p.G997R|FREM1_ENST00000380880.3_Missense_Mutation_p.G997R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	997					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGATTGGGTCCATTGTAGCAA	0.493000													23	73					0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61627444	61627444	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:61627444A>G	ENST00000408945.3	+	4	477	c.275A>G	c.(274-276)gAc>gGc	p.D92G	HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	92						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						AAACAGCTAGACTTTGTGAAT	0.333000													5	40					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31187623	31187623	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:31187623G>A	ENST00000357033.4	-	74	10696	c.10490C>T	c.(10489-10491)tCc>tTc	p.S3497F	DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Intron|DMD_ENST00000378723.3_Missense_Mutation_p.S429F|DMD_ENST00000378702.4_Missense_Mutation_p.S429F|DMD_ENST00000378707.3_Missense_Mutation_p.S1037F|DMD_ENST00000378677.2_Missense_Mutation_p.S3493F|DMD_ENST00000541735.1_Intron|DMD_ENST00000378680.2_Intron|DMD_ENST00000359836.1_Missense_Mutation_p.S1024F|DMD_ENST00000474231.1_Missense_Mutation_p.S1037F|DMD_ENST00000361471.4_Missense_Mutation_p.S416F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3497	Binds to SNTB1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTCTCTAAGGAAATCAAGAT	0.458000													6	10					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534639	13534639	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:13534639C>T	ENST00000341083.3	-	5	949	c.653G>A	c.(652-654)gGc>gAc	p.G218D	BEND7_ENST00000396900.2_Missense_Mutation_p.G270D|BEND7_ENST00000396898.2_Missense_Mutation_p.G283D|BEND7_ENST00000378605.3_Missense_Mutation_p.G231D	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	270	Poly-Lys.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CAGAACAATGCCGAATCCTAG	0.483000													29	74					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600281	3600281	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:3600281C>T	ENST00000302006.3	+	2	1271	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	407	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTCACCTTCCTGCACCTCC	0.692000													17	56					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400323	85400323	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:85400323A>G	ENST00000258888.5	+	6	3127	c.2960A>G	c.(2959-2961)aAc>aGc	p.N987S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	987					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTCCAGGAACCATGAGCAA	0.547000													18	101					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167991	76167991	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:76167991G>A	ENST00000225777.3	+	4	708	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000585591.1_Missense_Mutation_p.G217S|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000588282.1_Silent_p.R246R|SYNGR2_ENST00000590201.1_Missense_Mutation_p.G161S			O43760	SNG2_HUMAN	synaptogyrin 2	217						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GACCACCGAGGGCTACCAGCC	0.652000													5	86					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579170	52579170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:52579170G>A	ENST00000313234.5	-	2	599	c.502C>T	c.(502-504)Cga>Tga	p.R168*	KRT80_ENST00000394815.2_Nonsense_Mutation_p.R168*	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	168	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TACCTGATTCGAAACTCCTCA	0.592000													23	59					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317371	203317371	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:203317371C>T	ENST00000354955.4	-	2	491	c.28G>A	c.(28-30)Gca>Aca	p.A10T	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	10					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AAGAGCCCTGCCAGCAGCAGG	0.572000													13	63					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982021	93982021	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:93982021C>T	ENST00000369303.4	-	6	1628	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	482	Fibronectin type-III 2.					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)		CTTACTTTCTCGTAATACTTG	0.418000													36	79					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102948132	102948132	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:102948132C>T	ENST00000249269.4	+	7	864	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	PMPCB_ENST00000420236.2_Missense_Mutation_p.P171S|PMPCB_ENST00000428154.1_Missense_Mutation_p.P276S	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	276					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCTGCCTCCCTGCAAATT	0.398000													11	25					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4101104	4101104	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:4101104C>T	ENST00000262948.5	-	6	871	c.618G>A	c.(616-618)ggG>ggA	p.G206G	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.G109G	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	206	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras 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	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGATCTCCCCTCTAGAGT	0.652000													8	7					0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51509961	51509961	+	Silent	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51509961A>T	ENST00000376832.4	-	3	252	c.219T>A	c.(217-219)ctT>ctA	p.L73L	KLK9_ENST00000594211.1_Silent_p.L73L|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000250366.6_Silent_p.L73L	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	73	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGTGCTCTCCAAGGCGGACCC	0.592000													6	20					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233411	23233411	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:23233411C>T	ENST00000400191.3	+	11	2115	c.2097C>T	c.(2095-2097)acC>acT	p.T699T	EPHB2_ENST00000374632.3_Silent_p.T700T|EPHB2_ENST00000374630.3_Silent_p.T699T|EPHB2_ENST00000374627.1_Silent_p.T694T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	699	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGATCATCACCGAGTTCATGG	0.572000													6	24					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20027423	20027423	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:20027423C>T	ENST00000343769.5	+	3	213	c.185C>T	c.(184-186)cCt>cTt	p.P62L	ZNF93_ENST00000591366.1_Missense_Mutation_p.P62L|AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Missense_Mutation_p.P62L	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	62	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GGAAAAAAACCTTTGACTATG	0.418000													18	68					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7712089	7712089	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:7712089C>G	ENST00000441779.2	+	17	1564	c.1527C>G	c.(1525-1527)ttC>ttG	p.F509L	STXBP2_ENST00000221283.5_Missense_Mutation_p.F498L|STXBP2_ENST00000414284.2_Missense_Mutation_p.F495L|STXBP2_ENST00000602355.1_Missense_Mutation_p.F33L	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	498					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCCCTTCGTATCCGACC	0.736000													12	41					0	0	1	0	0
RAB30	27314	broad.mit.edu	37	11	82698774	82698774	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:82698774C>T	ENST00000533486.1	-	5	500	c.216G>A	c.(214-216)cgG>cgA	p.R72R	RAB30_ENST00000532548.1_Silent_p.R72R|RAB30_ENST00000527633.1_Silent_p.R72R|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Silent_p.R44R|RAB30_ENST00000534141.1_Silent_p.R72R|RAB30_ENST00000260056.2_Silent_p.R72R	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	72					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGGTAATGGACCGAAATCTCT	0.468000													11	60					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141315153	141315153	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:141315153C>T	ENST00000325617.5	-	11	1632	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CLGN_ENST00000414773.1_Missense_Mutation_p.E398K|CLGN_ENST00000537281.1_Missense_Mutation_p.E398K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	398					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGATCATCTTCGAAATAATCT	0.328000													9	29					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578781	44578781	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:44578781G>A	ENST00000289547.4	-	2	1270	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	NPC1L1_ENST00000423141.1_Silent_p.F405F|NPC1L1_ENST00000381160.3_Silent_p.F405F|NPC1L1_ENST00000546276.1_Silent_p.F405F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	405					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGTTGGTTCGGAAGAAGGGGC	0.587000													38	133					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863284	55863284	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:55863284G>A	ENST00000327335.4	-	1	638	c.639C>T	c.(637-639)atC>atT	p.I213I	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGTAAGAAAGGATTACTAAAA	0.368000													9	88					0	0	1	0	0
C9orf142	286257	broad.mit.edu	37	9	139887630	139887630	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139887630C>T	ENST00000371620.3	+	4	382	c.356C>T	c.(355-357)cCc>cTc	p.P119L	C9orf142_ENST00000493968.1_3'UTR	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	119												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGGCAGCCCCCAGGCTGCGG	0.657000													8	52					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748139	41748139	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:41748139C>T	ENST00000226382.2	-	3	989	c.630G>A	c.(628-630)gcG>gcA	p.A210A		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						cgccTCCATTCGCCCCGCAGC	0.756000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				18	69					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825589	26825589	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:26825589C>T	ENST00000541819.2	-	7	829	c.727G>A	c.(727-729)Gat>Aat	p.D243N	GABRB3_ENST00000545868.1_Missense_Mutation_p.D102N|GABRB3_ENST00000311550.5_Missense_Mutation_p.D187N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D187N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D116N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	187					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAATGTCATCCGTGGTGTAG	0.502000													10	79					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905350	50905350	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:50905350C>T	ENST00000440232.2	+	5	611	c.558C>T	c.(556-558)gcC>gcT	p.A186A	POLD1_ENST00000595904.1_Silent_p.A186A|POLD1_ENST00000599857.1_Silent_p.A186A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	186					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGGCCGGCCGTGCTGGCTG	0.672000								DNA polymerases (catalytic subunits)					8	56					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22938294	22938294	+	RNA	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:22938294T>G	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDV3_ENST00000535880.2_RNA																							CACCGTCTGGTCCGGGGAACT	0.498000													7	17					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184761	130184761	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:130184761C>T	ENST00000422113.2	-	2	888	c.562G>A	c.(562-564)Gac>Aac	p.D188N		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	188						integral to membrane		p.D188H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGCCCCAGGTCCCCCTGCAGC	0.706000													5	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049206	9049206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9049206G>A	ENST00000397910.4	-	5	32628	c.32425C>T	c.(32425-32427)Cga>Tga	p.R10809*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10811	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAGAGCTCGATTAGTTGTA	0.498000													31	100					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725701	87725701	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:87725701G>A	ENST00000305344.4	+	2	1352	c.649G>A	c.(649-651)Gga>Aga	p.G217R	HTR1E_ENST00000369584.1_Missense_Mutation_p.G217R	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	217					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCAGAAAAGGGGATCAAGTCG	0.448000													25	65					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087088	92087088	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92087088G>A	ENST00000298047.6	+	1	1827	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	FAT3_ENST00000409404.2_Missense_Mutation_p.D604N|FAT3_ENST00000525166.1_Missense_Mutation_p.D454N|FAT3_ENST00000541502.1_Missense_Mutation_p.D604N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	604	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D604N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCAGCGATCGATATCGATGA	0.388000										TCGA Ovarian(4;0.039)			7	21					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3562479	3562479	+	Splice_Site	SNP	G	G	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3562479G>T	ENST00000571025.1	+	5	545		c.e5+1		CLUAP1_ENST00000576634.1_Splice_Site|CLUAP1_ENST00000572600.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_Splice_Site|CLUAP1_ENST00000341633.5_Splice_Site			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1							nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AGAGTTGAGGGTAAGCATTCC	0.423000													8	35					0.0381472	0.0383154	1	1	0
IGHV3-66	28412	broad.mit.edu	37	14	107131445	107131445	+	RNA	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:107131445T>A	ENST00000390632.2	-	0	115																											CCTTTTAAAATAGCAACAAGG	0.463000													5	90					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47462122	47462122	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:47462122G>A	ENST00000265565.5	-	12	1897	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.F240F|SCAP_ENST00000545718.1_Silent_p.F103F	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	495					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCAGGTTTCGGAAGGAAGACG	0.662000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	47					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33938002	33938002	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:33938002C>A	ENST00000330120.3	+	1	1512	c.1157C>A	c.(1156-1158)cCc>cAc	p.P386H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	386						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						TGCCTCAACCCCGTCCTCTAC	0.622000													17	101					1.00905e-13	1.02984e-13	1	1	0
SPEG	10290	broad.mit.edu	37	2	220337674	220337674	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:220337674C>T	ENST00000312358.7	+	16	4135	c.4003C>T	c.(4003-4005)Ctg>Ttg	p.L1335L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1335	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGGACGGCACTGGTCACAGG	0.657000													19	50					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91989597	91989597	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:91989597G>A	ENST00000428239.1	+	12	1589		c.e12-1		CDC7_ENST00000430031.2_Splice_Site|CDC7_ENST00000234626.6_Splice_Site	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7						cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TTTGCTTTTAGGGAAATCAAT	0.333000													14	30					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86850382	86850382	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:86850382G>A	ENST00000359242.3	-	4	630	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000370566.3_Missense_Mutation_p.L117F|ODF2L_ENST00000317336.7_Missense_Mutation_p.L117F|ODF2L_ENST00000294678.2_Missense_Mutation_p.L117F|ODF2L_ENST00000370567.1_Missense_Mutation_p.L117F	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	117						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTCTTTCTAAGAAGATGTTCT	0.289000													4	27					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088580	56088580	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:56088580G>A	ENST00000257880.7	-	16	2529	c.2310C>T	c.(2308-2310)gtC>gtT	p.V770V	ITGA7_ENST00000257879.6_Silent_p.V726V|ITGA7_ENST00000553804.1_Silent_p.V730V|ITGA7_ENST00000452168.2_Silent_p.V633V|ITGA7_ENST00000394229.2_Silent_p.V726V|ITGA7_ENST00000394230.2_Silent_p.V730V|ITGA7_ENST00000347027.6_Silent_p.V720V|ITGA7_ENST00000555728.1_Silent_p.V770V			Q13683	ITA7_HUMAN	integrin, alpha 7	770					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAGGGCCCGGACCCCTGAGT	0.642000													9	58					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484287	123484287	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:123484287C>T	ENST00000529750.1	+	15	2046	c.1719C>T	c.(1717-1719)gtC>gtT	p.V573V	GRAMD1B_ENST00000322282.7_Silent_p.V573V|GRAMD1B_ENST00000456860.2_Silent_p.V580V|GRAMD1B_ENST00000450171.2_Silent_p.V264V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	573						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACCTGCGAGTCCCTCACCTGG	0.587000													5	27					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943078	144943078	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:144943078C>T	ENST00000525985.1	-	2	4415	c.4344G>A	c.(4342-4344)gtG>gtA	p.V1448V				P58107	EPIPL_HUMAN	epiplakin 1	1448						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTCAGAGCCACCGCGGTGT	0.617000													19	30					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:4936029G>A	ENST00000322013.3	-	1	893	c.865C>T	c.(865-867)Cct>Tct	p.P289S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000													7	41					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25656761	25656761	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:25656761G>A	ENST00000435706.2	-	27	3712	c.3511C>T	c.(3511-3513)Ctt>Ttt	p.L1171F	TOP2B_ENST00000540199.1_Missense_Mutation_p.L28F|TOP2B_ENST00000542520.1_Missense_Mutation_p.L28F|TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000264331.4_Missense_Mutation_p.L1176F			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1176					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TTTCTTTTAAGATCATTGACC	0.284000													14	37					0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177162612	177162612	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:177162612C>T	ENST00000392529.2	+	4	499	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	MTX2_ENST00000249442.6_Missense_Mutation_p.L42F|MTX2_ENST00000443241.1_Intron			O75431	MTX2_HUMAN	metaxin 2	42					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGCAGCTTCTCTTGCAGTGCA	0.318000													3	18					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432225	6432225	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:6432225G>A	ENST00000389906.2	-	2	452	c.353C>T	c.(352-354)tCt>tTt	p.S118F	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.S118F|APBB1_ENST00000299402.6_Missense_Mutation_p.S118F	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	118					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTCCAGCTCAGAGTACAGGTG	0.607000													67	236					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14877186	14877186	+	Silent	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14877186A>G	ENST00000315576.3	-	7	946	c.495T>C	c.(493-495)aaT>aaC	p.N165N	EMR2_ENST00000594294.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Silent_p.N165N|EMR2_ENST00000392965.3_Silent_p.N165N|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000596991.2_Silent_p.N165N|EMR2_ENST00000392967.2_Silent_p.N165N|EMR2_ENST00000346057.1_Intron	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	165	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGGTGCATTCATTCACATCTG	0.597000													26	69					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1394941	1394941	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:1394941C>T	ENST00000259806.1	+	2	1296	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	394					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	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			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TGGGACTGCCCCGTTACCAGC	0.443000													45	78					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656535	12656535	+	Nonsense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:12656535A>T	ENST00000425538.1	+	10	2130	c.1930A>T	c.(1930-1932)Aaa>Taa	p.K644*	MYOCD_ENST00000343344.4_Nonsense_Mutation_p.K644*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.K548*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	644					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGGGCTGTGAAAAGCCCACA	0.562000													30	89					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139180953	139180953	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:139180953C>T	ENST00000232217.2	-	2	309		c.e2+1		RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular						epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCGGTCAGTACCTTAACATGC	0.428000													18	55					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47219444	47219444	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:47219444G>A	ENST00000300404.2	+	3	502	c.443G>A	c.(442-444)gGa>gAa	p.G148E	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G62E|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G88E	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	148					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AAAGAGCAGGGAGGTTACAAC	0.512000													13	80					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812196	116812196	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:116812196A>G	ENST00000288466.7	+	14	2434	c.2335A>G	c.(2335-2337)Aat>Gat	p.N779D	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.N872D	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCTAGGCAAAAATGAAGTGTA	0.587000													13	88					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815972	82815972	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:82815972G>A	ENST00000265077.3	+	7	2412	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	VCAN_ENST00000342785.4_Missense_Mutation_p.G616E|VCAN_ENST00000512590.2_Missense_Mutation_p.G568E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	616	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATAATAATGGATCATCCATG	0.413000													26	92					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558774	140558774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140558774C>T	ENST00000239444.2	+	1	1404	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATTCAGGAGGATCT	0.458000													18	63					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92151512	92151512	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:92151512G>A	ENST00000248633.4	-	2	272	c.177C>T	c.(175-177)agC>agT	p.S59S	PEX1_ENST00000438045.1_Silent_p.S59S|PEX1_ENST00000428214.1_Silent_p.S59S	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	59					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTCCACCCAGCTCAAGAATG	0.403000													27	63					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332216	70332216	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:70332216G>A	ENST00000338508.4	-	32	4184	c.4185C>T	c.(4183-4185)ccC>ccT	p.P1395P	SHANK2_ENST00000423696.2_Silent_p.P1015P|SHANK2_ENST00000449833.2_Silent_p.P799P|SHANK2_ENST00000409161.1_Silent_p.P798P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1015					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATGCCAGAGGGGGAGGAGGGA	0.577000													13	70					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671701	112671701	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:112671701G>A	ENST00000441065.2	+	3	1103	c.791G>A	c.(790-792)tGa>tAa	p.*264*		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	0							zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATCTGCCCATGAGAAAGTCAG	0.463000													13	20					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4101103	4101103	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:4101103C>T	ENST00000262948.5	-	6	872	c.619G>A	c.(619-621)Gag>Aag	p.E207K	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.E110K	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	207	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras 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	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E207K(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTGATCTCCCCTCTAGAG	0.652000													8	7					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48244997	48244997	+	Silent	SNP	G	G	A	rs139456533		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:48244997G>A	ENST00000394747.1	-	10	1819	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ABCC11_ENST00000394748.1_Silent_p.I490I|ABCC11_ENST00000537808.1_Silent_p.I490I|ABCC11_ENST00000353782.5_Silent_p.I490I|ABCC11_ENST00000356608.2_Silent_p.I490I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	490						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCCCATTGACGATCCCGGGAC	0.577000													31	55					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868179	189868179	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:189868179C>T	ENST00000304636.3	+	37	2766	c.2596C>T	c.(2596-2598)Cct>Tct	p.P866S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	866	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGTGGCAGTCCTGGTGGACC	0.373000													9	20					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78346416	78346416	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:78346416G>A	ENST00000409931.3	-	2	545	c.474C>T	c.(472-474)ccC>ccT	p.P158P	TBC1D2B_ENST00000300584.3_Silent_p.P158P			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	158						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GAAAATCCCCGGGAGTTGGAG	0.468000													43	94					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526307	13526307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:13526307C>T	ENST00000318426.2	-	3	465	c.248G>A	c.(247-249)tGg>tAg	p.W83*	C12orf36_ENST00000527705.2_Nonsense_Mutation_p.W83*					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCGTGCAATCCAGCAGAATGT	0.473000													14	69					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306401	3306401	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3306401C>T	ENST00000219596.1	-	1	226	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	MEFV_ENST00000339854.4_Missense_Mutation_p.E63K|MEFV_ENST00000541159.1_Missense_Mutation_p.E63K|MEFV_ENST00000536379.1_Missense_Mutation_p.E63K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	63	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCGTACTCTTCCCCATAGTAG	0.642000													14	71					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037750	50037750	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:50037750C>T	ENST00000261897.1	+	24	2998	c.2447C>T	c.(2446-2448)cCt>cTt	p.P816L	PRPF40B_ENST00000380281.1_Missense_Mutation_p.P829L|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P850L|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	829					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCAGAGCTCCCTAACCGTTCC	0.577000													12	80					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15572085	15572085	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15572085C>T	ENST00000343625.6	-	4	568	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	163					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCTAGCACTTCCCACCCGGGG	0.647000													7	31					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37665729	37665729	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:37665729G>A	ENST00000378588.4	+	11	1471	c.1404G>A	c.(1402-1404)agG>agA	p.R468R	CYBB_ENST00000545017.1_Silent_p.R436R|CYBB_ENST00000536160.1_Silent_p.R201R|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	468					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TGCAGGAAAGGAACAATGCCG	0.522000													7	14					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797606	241797606	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:241797606G>A	ENST00000366553.1	-	1	1626	c.1463C>T	c.(1462-1464)gCt>gTt	p.A488V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	488					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GACCCGTACAGCACAAGCTCC	0.423000													15	52					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55741984	55741984	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:55741984G>A	ENST00000412770.2	-	23	3205	c.2639C>T	c.(2638-2640)tCc>tTc	p.S880F	PPP6R1_ENST00000587283.1_Missense_Mutation_p.S880F	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	880					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CACTCACTGGGAGCCTGGGGA	0.657000													3	24					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927401	55927401	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55927401G>A	ENST00000313447.1	-	1	392	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAACATAATAGAGCAGAGGGT	0.413000													23	71					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306400	3306400	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3306400T>A	ENST00000219596.1	-	1	227	c.188A>T	c.(187-189)gAa>gTa	p.E63V	MEFV_ENST00000339854.4_Missense_Mutation_p.E63V|MEFV_ENST00000541159.1_Missense_Mutation_p.E63V|MEFV_ENST00000536379.1_Missense_Mutation_p.E63V	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	63	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCGTACTCTTCCCCATAGTA	0.642000													15	68					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086793	144086793	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:144086793C>T	ENST00000427704.2	+	6	1187	c.1057C>T	c.(1057-1059)Cca>Tca	p.P353S	PHACTR2_ENST00000305766.6_Missense_Mutation_p.P273S|PHACTR2_ENST00000367582.3_Missense_Mutation_p.P284S|PHACTR2_ENST00000367584.4_Missense_Mutation_p.P341S|PHACTR2_ENST00000440869.2_Missense_Mutation_p.P364S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	353							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCAGACACTCCAGTTGTCCT	0.577000													17	40					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18058687	18058687	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:18058687G>A	ENST00000585180.1	+	4	360	c.187G>A	c.(187-189)Gag>Aag	p.E63K	MYO15A_ENST00000418233.3_Silent_p.L64L|MYO15A_ENST00000205890.5_Silent_p.L2800L			Q9UKN7	MYO15_HUMAN	myosin XVA	733	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAAACTCCTGAGGATGGTCA	0.647000													44	84					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862691	84862691	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84862691C>A	ENST00000403245.3	-	23	3316	c.3202G>T	c.(3202-3204)Gat>Tat	p.D1068Y	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D992Y	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1068					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AAATCTTCATCATCTTTATCA	0.368000													10	17					1.61879e-10	1.64625e-10	1	1	0
PNMA5	114824	broad.mit.edu	37	X	152159652	152159652	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:152159652C>T	ENST00000439251.1	-	2	929	c.491G>A	c.(490-492)gGa>gAa	p.G164E	PNMA5_ENST00000535214.1_Missense_Mutation_p.G164E|PNMA5_ENST00000361887.5_Missense_Mutation_p.G164E|PNMA5_ENST00000452693.1_Missense_Mutation_p.G164E	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	164					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGCAGTTCCCGAAAACAC	0.522000													43	43					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155003670	155003670	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:155003670G>A	ENST00000368424.3	-	5	838	c.780C>T	c.(778-780)ccC>ccT	p.P260P	DCST2_ENST00000295536.5_Silent_p.P260P	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	260						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			GGCGCAAGAAGGGTTGAATGT	0.642000													7	35					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14645905	14645905	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:14645905G>A	ENST00000437198.2	-	21	1594	c.1453C>T	c.(1453-1455)Ctt>Ttt	p.L485F	PARN_ENST00000420015.2_Missense_Mutation_p.L439F|PARN_ENST00000539279.1_Missense_Mutation_p.L310F|PARN_ENST00000341484.7_Missense_Mutation_p.L424F	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	485					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGCTGGCTAAGGGAAACAAAT	0.398000													21	142					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36278627	36278627	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:36278627C>T	ENST00000242108.4	+	3	1630	c.912C>T	c.(910-912)gaC>gaT	p.D304D	EEPD1_ENST00000534978.1_Silent_p.D304D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	304					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AACTGCTTGACAGAGAGGCCT	0.393000													10	42					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110009485	110009485	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:110009485G>A	ENST00000545712.2	-	2	558	c.165C>T	c.(163-165)atC>atT	p.I55I	MMAB_ENST00000266839.5_5'UTR|MMAB_ENST00000540016.1_Intron	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	55					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATCTTGGGGATCCTGGGTG	0.463000													4	34					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175225444	175225444	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:175225444C>T	ENST00000503780.1	+	6	845	c.431C>T	c.(430-432)cCt>cTt	p.P144L	CEP44_ENST00000296519.4_Missense_Mutation_p.P144L|CEP44_ENST00000426172.1_Missense_Mutation_p.P144L|CEP44_ENST00000457424.2_Missense_Mutation_p.P144L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	144						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AAGTCAGAACCTCCTTTGGGC	0.353000													10	42					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503831	51503831	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51503831T>C	ENST00000600767.1	-	4	568	c.79A>G	c.(79-81)Agg>Ggg	p.R27G	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.R72G|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.R27G|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000320838.5_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	27					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TCCTGTGCCCTGGAGTGTCCT	0.642000													14	61					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792678	38792678	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:38792678T>C	ENST00000348513.6	-	6	1118	c.338A>G	c.(337-339)cAa>cGa	p.Q113R	SMARCE1_ENST00000544009.1_Missense_Mutation_p.Q43R|SMARCE1_ENST00000580419.1_Missense_Mutation_p.Q78R|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Missense_Mutation_p.Q43R|SMARCE1_ENST00000578044.1_Missense_Mutation_p.Q43R|SMARCE1_ENST00000377808.4_Missense_Mutation_p.Q78R|SMARCE1_ENST00000431889.2_Missense_Mutation_p.Q95R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	113					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TAAATATTCTTGTTTTTCTTC	0.403000													39	106					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14042043	14042043	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:14042043C>A	ENST00000311895.7	+	11	2599	c.2590C>A	c.(2590-2592)Cgc>Agc	p.R864S		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	864	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAAAAACTGCCGCTCCTTGAT	0.478000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	33					1.3612e-06	1.3806e-06	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4216990	4216990	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:4216990C>T	ENST00000600132.1	+	18	2109	c.1833C>T	c.(1831-1833)acC>acT	p.T611T	ANKRD24_ENST00000262970.5_Silent_p.T701T|ANKRD24_ENST00000318934.4_Silent_p.T611T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	611										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAATGGAGACCACAGAAGAAG	0.582000													17	16					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646001	51646001	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51646001G>A	ENST00000317643.6	+	1	444	c.375G>A	c.(373-375)atG>atA	p.M125I	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.M125I|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.M125I	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	125					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCTTTCGTATGGAGAAAGGAA	0.478000													25	60					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212241644	212241644	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:212241644C>T	ENST00000366991.4	+	9	1106	c.792C>T	c.(790-792)taC>taT	p.Y264Y	DTL_ENST00000542077.1_Silent_p.Y222Y|DTL_ENST00000475419.1_Intron	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	264					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTTTCCTGTACCCAGGTAGCA	0.348000													15	55					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021425	132021425	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:132021425G>A	ENST00000356920.5	+	15	2491	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	799	Actin-like.						ATP binding										TGGCTCCCGAGGAGCACCCCA	0.582000													27	184					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405425	2405425	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:2405425G>A	ENST00000332578.3	+	6	622	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	208	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGGCATGGAAGCATCCCC	0.637000													20	71					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97862208	97862208	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:97862208G>A	ENST00000447648.2	-	12	2048	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	TECPR1_ENST00000542604.1_Silent_p.F513F|TECPR1_ENST00000379795.3_Silent_p.F584F			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	583						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAGCTGCTGGAAGATCTGCT	0.632000													23	30					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44478306	44478306	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:44478306C>T	ENST00000398165.3	-	15	1675	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	CBS_ENST00000398158.1_Silent_p.K472K|CBS_ENST00000359624.3_Silent_p.K472K|CBS_ENST00000544202.1_Silent_p.K384K|CBS_ENST00000352178.5_Silent_p.K472K|CBS_ENST00000398168.1_Silent_p.K472K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	472	CBS.				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACGGCTGCACCTTCCCGGCAA	0.577000													9	41					0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20979121	20979121	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:20979121G>A	ENST00000430083.1	+	2	979	c.575G>A	c.(574-576)gGa>gAa	p.G192E	RNASE10_ENST00000328444.5_Missense_Mutation_p.G164E			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	164						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.G164E(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTCAAGGGGGGAAAATGTCAC	0.458000													13	41					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452921	106452921	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:106452921C>T	ENST00000390594.2	-	0	164																											CACTGAGGCCCCAGGCTTCTT	0.587000													24	33					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50425041	50425041	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:50425041C>T	ENST00000435965.1	-	5	641	c.468G>A	c.(466-468)gaG>gaA	p.E156E	CACNA2D2_ENST00000360963.3_Silent_p.E87E|CACNA2D2_ENST00000395083.1_Silent_p.E156E|CACNA2D2_ENST00000266039.3_Silent_p.E156E|CACNA2D2_ENST00000423994.2_Silent_p.E156E|CACNA2D2_ENST00000429770.1_Silent_p.E156E|CACNA2D2_ENST00000479441.1_Silent_p.E156E|CACNA2D2_ENST00000424201.2_Silent_p.E156E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	156					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CGATGTCTTCCTCCTGGTGAG	0.607000													12	25					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752246	7752246	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7752246G>A	ENST00000254846.5	+	11	3029	c.2640G>A	c.(2638-2640)cgG>cgA	p.R880R	KDM6B_ENST00000448097.2_Silent_p.R880R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	880	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCTGGGCCCGGGAGCGCAGGG	0.721000													9	24					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18393642	18393642	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:18393642C>T	ENST00000338745.6	-	10	3355	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.E541K|SATB1_ENST00000454909.2_Missense_Mutation_p.E541K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	541					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTTCTGTTTTCTGGAGAAGGA	0.502000													11	51					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201915405	201915405	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:201915405C>T	ENST00000367288.4	-	1	310	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	22					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACAGGGTCTCCAGCAGGCTG	0.607000													11	15					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669513	25669513	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:25669513C>T	ENST00000382051.3	+	6	585	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SLC34A2_ENST00000503434.1_Missense_Mutation_p.R178W|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R178W	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	179					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTCACTGTTCGGGCTGCCAT	0.493000			T	ROS1	NSCLC								7	33					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52442570	52442570	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:52442570G>A	ENST00000460680.1	-	4	646	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	BAP1_ENST00000296288.5_Missense_Mutation_p.R59W	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	59					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S58fs*8(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACCTTTCGCCGGGACCGGCGC	0.502000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							5	11					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20818980	20818980	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:20818980G>A	ENST00000304031.3	-	7	971	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	316					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGGTTCAGAATCTGGTCC	0.572000													7	34					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119347	68119347	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:68119347C>A	ENST00000380035.2	+	2	1239	c.1181C>A	c.(1180-1182)cCc>cAc	p.P394H	SKOR1_ENST00000554240.1_Missense_Mutation_p.P355H|SKOR1_ENST00000389002.1_Missense_Mutation_p.P350H|SKOR1_ENST00000554054.1_Missense_Mutation_p.P366H|SKOR1_ENST00000341418.5_Missense_Mutation_p.P501H			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	394					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCACTTTTCCCCCATCCTTAC	0.667000													11	29					0.0135373	0.013609	1	1	0
ETV7	51513	broad.mit.edu	37	6	36353427	36353427	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:36353427G>A	ENST00000373738.1	-	2	871	c.26C>T	c.(25-27)tCt>tTt	p.S9F	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.S9F|ETV7_ENST00000339796.5_Missense_Mutation_p.S9F|ETV7_ENST00000373737.4_Missense_Mutation_p.S9F	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	9					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCTTATAGGAGAAATAGCCAA	0.483000													9	51					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644471	37644471	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37644471G>A	ENST00000356958.4	-	5	588	c.330C>T	c.(328-330)atC>atT	p.I110I	ZNF585A_ENST00000355533.2_Silent_p.I55I|ZNF585A_ENST00000292841.5_Silent_p.I55I|ZNF585A_ENST00000392157.2_Silent_p.I55I|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATAACTGAGGATTTTTCTAC	0.343000													29	97					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65198503	65198503	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:65198503C>G	ENST00000247226.7	+	7	1244	c.936C>G	c.(934-936)agC>agG	p.S312R	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S368R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	368	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACAAGCACAGCAAGCAGCAGT	0.597000													10	42					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18900092	18900092	+	Silent	SNP	G	G	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:18900092G>C	ENST00000542601.2	-	4	695	c.306C>G	c.(304-306)ccC>ccG	p.P102P	COMP_ENST00000222271.2_Silent_p.P135P|COMP_ENST00000425807.1_Intron			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	135	EGF-like 1.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGGGAAGCAGGGGTGGGCGT	0.706000													4	8					0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117595803	117595803	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:117595803C>T	ENST00000427718.2	-	10	1466	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	FBXO21_ENST00000330622.5_Silent_p.L471L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	471					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGTGCTGCACCAGGTAGCCCA	0.532000													58	220					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70178156	70178156	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:70178156G>A	ENST00000253925.7	+	9	1383	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E390K|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	390					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GACGCTCCCGGAGGTGGAGGC	0.562000													33	121					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102898250	102898250	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:102898250C>T	ENST00000359520.7	+	8	1428	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	TECPR2_ENST00000558678.1_Missense_Mutation_p.S401F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	401							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATGGCCAGCTCCGTGGCCAGC	0.667000													14	27					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754449	49754449	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:49754449C>T	ENST00000304801.3	-	1	604	c.452G>A	c.(451-453)cGa>cAa	p.R151Q		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGATGCTCGGAAGGCTTC	0.498000													18	59					0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33348757	33348757	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:33348757G>A	ENST00000315249.7	-	3	446	c.224C>T	c.(223-225)tCg>tTg	p.S75L	RFFL_ENST00000413582.2_Missense_Mutation_p.S75L|RFFL_ENST00000394597.2_Missense_Mutation_p.S75L|RFFL_ENST00000378516.2_Missense_Mutation_p.S75L|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Missense_Mutation_p.S75L|RFFL_ENST00000447669.2_Missense_Mutation_p.S75L|RFFL_ENST00000415395.2_Missense_Mutation_p.S75L|RFFL_ENST00000268850.7_Missense_Mutation_p.S75L			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	75					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TACTTGGCTCGAACAGGTCAT	0.498000													10	55					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27130471	27130471	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:27130471C>T	ENST00000354828.3	+	6	1231	c.704C>T	c.(703-705)cCt>cTt	p.P235L	GABPA_ENST00000400075.3_Missense_Mutation_p.P235L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	235	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAGCGGGTTCCTCGGGGAGAA	0.368000													13	49					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103108553	103108553	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:103108553G>A	ENST00000374902.4	-	4	1114	c.938C>T	c.(937-939)tCt>tTt	p.S313F	TEX10_ENST00000537512.1_Missense_Mutation_p.S248F|TEX10_ENST00000535814.1_Missense_Mutation_p.S316F	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	313						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GTTTTCAGTAGATGACAGGCC	0.368000													4	39					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204714	27204714	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:27204714G>A	ENST00000343483.6	-	1	435	c.363C>T	c.(361-363)ttC>ttT	p.F121F	RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	121							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GCAAGCCCGCGAAGGAGAGCG	0.682000			T	"""NUP98, MSI2"""	AML*								5	23					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048940	42048940	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:42048940G>A	ENST00000372584.1	-	3	2543	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.S510L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S510L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S510L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	510	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACTGTGGGATGACAGGGGCTC	0.612000													26	124					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943077	144943077	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:144943077C>T	ENST00000525985.1	-	2	4416	c.4345G>A	c.(4345-4347)Gct>Act	p.A1449T				P58107	EPIPL_HUMAN	epiplakin 1	1449						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCTCAGAGCCACCGCGGTG	0.617000													19	29					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154042844	154042844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:154042844C>T	ENST00000368559.3	-	17	2530	c.2459G>A	c.(2458-2460)tGg>tAg	p.W820*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.W820*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	820						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGAGGATTTCCATTCTAGCAT	0.408000													20	44					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58543244	58543244	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:58543244G>A	ENST00000394282.4	+	15	1416	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S	NDRG4_ENST00000566192.1_Missense_Mutation_p.G285S|NDRG4_ENST00000258187.5_Missense_Mutation_p.G317S|NDRG4_ENST00000394279.2_Missense_Mutation_p.G317S|NDRG4_ENST00000562999.1_Missense_Mutation_p.G273S|NDRG4_ENST00000356752.4_Missense_Mutation_p.G315S|NDRG4_ENST00000569923.1_Missense_Mutation_p.G230S|NDRG4_ENST00000568640.1_Missense_Mutation_p.G303S|NDRG4_ENST00000570248.1_Missense_Mutation_p.G285S|NDRG4_ENST00000563799.1_Missense_Mutation_p.G303S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	285					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CTTCCTGCAAGGCATGGGCTA	0.582000													32	45					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48143377	48143377	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:48143377C>T	ENST00000381501.3	-	15	1687	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	510	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CATACCTGGCCATTCCAAAAT	0.363000													16	53					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055469	9055469	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:9055469G>A	ENST00000383836.3	-	16	2298	c.1871C>T	c.(1870-1872)cCc>cTc	p.P624L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P600L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	624	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GACCACGCGGGGAAGGGTGAC	0.547000			T	RAF1	pilocytic astrocytoma								21	60					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024426	147024426	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:147024426T>G	ENST00000265272.5	-	6	1537	c.1070A>C	c.(1069-1071)gAa>gCa	p.E357A	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E357A|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E315A	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	357						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGAATTTTCCTTGGTAAC	0.408000													18	71					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20066904	20066904	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:20066904G>A	ENST00000396085.1	+	14	3951	c.3590G>A	c.(3589-3591)aGt>aAt	p.S1197N	NAV2_ENST00000527559.2_Missense_Mutation_p.S1149N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.S1151N|NAV2_ENST00000349880.4_Missense_Mutation_p.S1197N|NAV2_ENST00000360655.4_Missense_Mutation_p.S1133N|NAV2_ENST00000396087.3_Missense_Mutation_p.S1220N|NAV2_ENST00000311043.8_Missense_Mutation_p.S283N|NAV2_ENST00000533917.1_Missense_Mutation_p.S283N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1220						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCGAGGCCCAGTAAGTCCAAC	0.567000													13	28					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50009539	50009539	+	Silent	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:50009539T>A	ENST00000443081.1	+	4	1894	c.975T>A	c.(973-975)ctT>ctA	p.L325L	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000266022.4_Silent_p.L457L			P78332	RBM6_HUMAN	RNA binding motif protein 6	457					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCAGCAGGCTTATTCGATTAA	0.363000													14	45					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227213842	227213842	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:227213842G>A	ENST00000366769.3	-	30	5630	c.4339C>T	c.(4339-4341)Cca>Tca	p.P1447S	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P1447S|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P1427S|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P1482S|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P1419S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P1460S|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P1366S	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1460	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGAGATATGGTGCATTGTAA	0.388000													6	24					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029246	37029246	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:37029246A>C	ENST00000358047.3	+	1	2815	c.2763A>C	c.(2761-2763)aaA>aaC	p.K921N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	921										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGACGGGAAAATCCAGAATG	0.458000													22	21					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49712680	49712680	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:49712680C>T	ENST00000296456.5	+	3	610	c.210C>T	c.(208-210)ttC>ttT	p.F70F	APEH_ENST00000438011.1_Silent_p.F70F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	70					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCTGGTGTTCCATGACGGGG	0.577000													5	24					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369519	139369519	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139369519G>A	ENST00000313050.7	-	1	2622	c.2549C>T	c.(2548-2550)tCg>tTg	p.S850L	SEC16A_ENST00000290037.6_Missense_Mutation_p.S672L|SEC16A_ENST00000431893.2_Missense_Mutation_p.S672L|SEC16A_ENST00000371706.3_Missense_Mutation_p.S672L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	672					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATGAGAGTTCGATAAGGACAC	0.512000													5	24					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350554	139350554	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139350554G>A	ENST00000313050.7	-	17	5688	c.5615C>T	c.(5614-5616)gCc>gTc	p.A1872V	SEC16A_ENST00000290037.6_Missense_Mutation_p.A1694V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1694V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A1694V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1694	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGTGGGTGCGGCCAAGGACTC	0.582000													20	51					0	0	1	0	0
C17orf67	339210	broad.mit.edu	37	17	54892244	54892244	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:54892244C>T	ENST00000397861.2	-	6	1421	c.142G>A	c.(142-144)Gat>Aat	p.D48N	C17orf67_ENST00000575658.1_Missense_Mutation_p.D72N|C17orf67_ENST00000397862.2_Missense_Mutation_p.D72N			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	72						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					ATTGGCTCATCGGGGAATCCG	0.498000													123	367					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14810037	14810037	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14810037G>A	ENST00000292530.6	+	5	341	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000540689.2_Missense_Mutation_p.E84K|ZNF333_ENST00000536363.1_5'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TAAACCCGAAGAGTTGCCTTC	0.423000													27	98					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71361229	71361229	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:71361229C>T	ENST00000244230.2	+	3	1272	c.920C>T	c.(919-921)tCg>tTg	p.S307L	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.S307L	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	307					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CTAAGTATTTCGGAAACGTGA	0.358000													16	50					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575322	4575322	+	Silent	SNP	G	G	A	rs139398595	by1000genomes	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:4575322G>A	ENST00000301396.4	-	16	3621	c.3396C>T	c.(3394-3396)ccC>ccT	p.P1132P	PELP1_ENST00000574876.1_Silent_p.P988P|PELP1_ENST00000572293.1_Silent_p.P1038P|PELP1_ENST00000269230.7_Silent_p.P898P|PELP1_ENST00000436683.2_Intron			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	988					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GAGACTCAGGGGGAGGCAGAG	0.622000													5	3					0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225140444	225140444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:225140444C>T	ENST00000430092.1	+	2	255	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	DNAH14_ENST00000366848.1_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000439375.2_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000400952.3_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000366849.1_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000366850.3_Nonsense_Mutation_p.Q14*	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	191					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AACTGAAAATCAAGAGATGGA	0.308000													3	11					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055574	64055574	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:64055574C>T	ENST00000539851.1	+	5	1138	c.671C>T	c.(670-672)gCc>gTc	p.A224V	GPR137_ENST00000313074.3_Missense_Mutation_p.A224V|GPR137_ENST00000438980.2_Missense_Mutation_p.A224V|GPR137_ENST00000411458.1_Missense_Mutation_p.A282V|GPR137_ENST00000377702.4_Intron	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	224						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ATGGGTGGCGCCATGGTCCTG	0.632000													19	74					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15655085	15655085	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15655085G>A	ENST00000269703.2	+	10	1330	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	CYP4F22_ENST00000601005.2_Silent_p.L377L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	377						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGGAGGAGCTGGAGTGGTGag	0.542000													4	27					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118869782	118869782	+	Nonsense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:118869782A>T	ENST00000334418.1	+	3	402	c.346A>T	c.(346-348)Aaa>Taa	p.K116*	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	116										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTCCAGATGAAAGAGAAGTT	0.453000													10	18					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891909	45891909	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:45891909C>T	ENST00000443527.2	+	9	1460	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	CRY2_ENST00000417225.2_Missense_Mutation_p.P398S	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	459	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GAAAGCGTTCCCCTCTCGATA	0.522000													7	49					0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135178172	135178172	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:135178172G>A	ENST00000368547.3	-	7	1152	c.797C>T	c.(796-798)aCc>aTc	p.T266I		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	266					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AGTGGCAAAGGTTGAATAAAA	0.353000													7	17					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219257709	219257709	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:219257709C>T	ENST00000233202.6	+	12	1510	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SLC11A1_ENST00000539932.1_Silent_p.F272F	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	390					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGGGCTTCCTGAGGCTGC	0.632000													10	47					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3105746	3105746	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:3105746C>T	ENST00000259808.4	+	9	1335	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	RIPK1_ENST00000541791.1_Missense_Mutation_p.S300F|RIPK1_ENST00000380409.2_Missense_Mutation_p.S346F|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	346	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTGCACAGTTCCCAGGGACTT	0.483000													64	210					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72076812	72076812	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:72076812C>T	ENST00000357731.4	-	5	924	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	NEGR1_ENST00000306821.3_Missense_Mutation_p.E101K|NEGR1_ENST00000434200.1_Missense_Mutation_p.E183K	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	229	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GATTTAATTTCCTGAATAGTA	0.403000													15	52					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	133008661	133008661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:133008661C>T	ENST00000254624.5	+	19	2299	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R656*|EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R692*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	692						plasma membrane	binding	p.R692*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGATGAAGATCGACTTTCTAG	0.308000													3	17					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089378	43089378	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:43089378C>T	ENST00000401850.1	-	2	1069	c.580G>A	c.(580-582)Gac>Aac	p.D194N	A4GALT_ENST00000249005.2_Missense_Mutation_p.D194N|A4GALT_ENST00000381278.3_Missense_Mutation_p.D194N			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	194					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						ACAATGAAGTCCGTGTCCAGG	0.652000													12	56					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127520150	127520150	+	Silent	SNP	C	C	T	rs143179971		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:127520150C>T	ENST00000299130.3	+	5	585	c.573C>T	c.(571-573)atC>atT	p.I191I	BCCIP_ENST00000368759.5_Silent_p.I191I|BCCIP_ENST00000429863.2_Silent_p.I161I|BCCIP_ENST00000278100.6_Silent_p.I191I	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	191	Interaction with CDKN1A.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCACAGATCGCTCTGCCCA	0.388000													16	42					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915786	186915786	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:186915786C>T	ENST00000367466.3	+	11	1203	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P291S	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	351	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGAATTTAGTCCATACGAAAT	0.328000													4	35					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363360	22363360	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:22363360G>A	ENST00000397121.2	-	3	1476	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	387					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)				TCTTCAGCATGAATTGCCTTA	0.393000													12	46					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136537915	136537915	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:136537915G>A	ENST00000272638.9	+	12	1659	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	450					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACATCGTCAGAACCCCCAAA	0.388000													23	73					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055575	64055575	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:64055575C>T	ENST00000539851.1	+	5	1139	c.672C>T	c.(670-672)gcC>gcT	p.A224A	GPR137_ENST00000313074.3_Silent_p.A224A|GPR137_ENST00000438980.2_Silent_p.A224A|GPR137_ENST00000411458.1_Silent_p.A282A|GPR137_ENST00000377702.4_Intron	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	224						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGGGTGGCGCCATGGTCCTGC	0.632000													21	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086857	9086857	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9086857C>T	ENST00000397910.4	-	1	5161	c.4958G>A	c.(4957-4959)gGa>gAa	p.G1653E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1653	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGATGTTCCTATGGGAAG	0.512000													23	69					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180835380	180835380	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:180835380G>A	ENST00000410053.3	-	10	1443	c.1144C>T	c.(1144-1146)Ctt>Ttt	p.L382F	CWC22_ENST00000295749.6_Missense_Mutation_p.L382F	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	382						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GACTTACTAAGAACATCTTCT	0.363000													3	8					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96215914	96215914	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:96215914C>T	ENST00000437043.3	+	2	1236	c.525C>T	c.(523-525)ggC>ggT	p.G175G	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.G175G|ERAP2_ENST00000510309.1_Silent_p.G175G	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	175					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TAGGTGATGGCTTTGAAGGGT	0.408000													6	20					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4790201	4790201	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:4790201G>A	ENST00000299320.5	+	4	802	c.324G>A	c.(322-324)caG>caA	p.Q108Q	C16orf71_ENST00000590191.1_Silent_p.Q122Q|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	108										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGTGCAGACAGAACACAAGGA	0.522000													21	72					0	0	1	0	0
CDR2L	30850	broad.mit.edu	37	17	72999951	72999951	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:72999951C>T	ENST00000337231.5	+	5	1592	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	394												all_lung(278;0.226)					CCCCATCTCCCGGGACAGCTC	0.701000													4	6					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116893	117116893	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:117116893G>A	ENST00000310357.3	-	5	1675	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	GPRC6A_ENST00000530250.1_Missense_Mutation_p.H377Y|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H481Y	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	552					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTAGTGTAATGATTTTCAGGA	0.363000													30	52					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118253383	118253383	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:118253383C>T	ENST00000252108.3	+	13	2220	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	UBE4A_ENST00000545354.1_Missense_Mutation_p.P169S|UBE4A_ENST00000431736.2_Missense_Mutation_p.P704S	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	697					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GACCCCAAATCCCTTGGTATC	0.498000													35	112					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360998	42360998	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:42360998A>T	ENST00000298119.4	+	4	3120	c.1931A>T	c.(1930-1932)aAa>aTa	p.K644I	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	644						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)		CAAAAGCAGAAAAGAAAGACT	0.453000										HNSCC(30;0.082)			8	26					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382049	76382049	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:76382049C>T	ENST00000357063.3	+	11	3046	c.1786C>T	c.(1786-1788)Ccc>Tcc	p.P596S	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.P596S|LMO7_ENST00000465261.2_Missense_Mutation_p.P311S|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.P311S			Q8WWI1	LMO7_HUMAN	LIM domain 7	596						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTCCCTTTTCCCGAACCCTG	0.438000													26	87					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178348	47178348	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:47178348G>A	ENST00000447411.1	-	6	676	c.470C>T	c.(469-471)tCc>tTc	p.S157F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S157F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	157					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTGTAATGGAAACAAAAGC	0.333000													8	35					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907280	16907280	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:16907280G>A	ENST00000430580.2	-	16	2438	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	517	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCATGAGAGGATTCTCTGT	0.453000													61	1796					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55565910	55565910	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:55565910C>T	ENST00000288135.5	+	4	831	c.734C>T	c.(733-735)aCg>aTg	p.T245M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	245	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTACTCAACGTGGAAAAGA	0.428000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				19	52					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875431	27875431	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:27875431C>T	ENST00000374011.2	-	6	4164	c.3196G>A	c.(3196-3198)Ggt>Agt	p.G1066S	AHDC1_ENST00000247087.5_Missense_Mutation_p.G1066S|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1066							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ATGTAGCCACCGGGCGAGACT	0.672000													5	12					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586685	33586685	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:33586685C>T	ENST00000262873.7	+	33	4375	c.4283C>T	c.(4282-4284)gCc>gTc	p.A1428V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1386						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAAGCAGATGCCATCCAGAGG	0.637000													5	28					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67759456	67759456	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:67759456C>T	ENST00000255674.6	-	30	4319	c.4032_splice	c.e30-1	p.E1345_splice	RTTN_ENST00000437017.1_Splice_Site_p.E1345_splice|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1345							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GACATCCACTCCTAGAGGGAA	0.353000													10	36					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263404	263404	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:263404C>T	ENST00000360127.6	+	2	786	c.770C>T	c.(769-771)cCc>cTc	p.P257L	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	287	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGCTTCCACCCCGACCCCGAG	0.692000													3	4					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224033	23224033	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:23224033C>T	ENST00000300061.2	+	9	1472	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	443					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAGCCTTTGTCCAGGAAGAGC	0.597000													20	63					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670256	186670256	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:186670256C>T	ENST00000343098.5	+	17	16490	c.16490C>T	c.(16489-16491)tCa>tTa	p.S5497L	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5408L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCTTCTTTTCATTTCTAAAT	0.388000													16	68					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47338945	47338945	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:47338945C>T	ENST00000505841.1	-	0	849					NR_002788.2																						TCCAGAAAATCCTGGCGTCTT	0.368000													3	20					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76903071	76903071	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:76903071G>A	ENST00000285871.4	+	10	1361	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000415740.2_Intron	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	412										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCTTCACAAGGAAGTTGAAGT	0.353000													18	107					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27927145	27927145	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:27927145C>T	ENST00000413272.2	-	4	315	c.173G>A	c.(172-174)aGa>aAa	p.R58K	NUGGC_ENST00000341513.6_Missense_Mutation_p.R58K	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CAAAACCCTTCTGGTCCGTGA	0.438000													15	84					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114156562	114156562	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:114156562G>A	ENST00000259335.4	-	27	3333	c.3334C>T	c.(3334-3336)Cca>Tca	p.P1112S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.P934S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AACACCCATGGAACCACATCA	0.393000													3	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584104	179584104	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179584104C>T	ENST00000589042.1	-	83	24237	c.24013G>A	c.(24013-24015)Gag>Aag	p.E8005K	TTN_ENST00000342992.6_Missense_Mutation_p.E6761K|TTN_ENST00000591111.1_Missense_Mutation_p.E7688K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7688	Ig-like 62.						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)			ACTCGGCACTCCAAAACAACT	0.512000													29	78					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084982	53084982	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:53084982C>T	ENST00000276480.7	-	10	1122	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E147K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAATTTTCACTTACAGTC	0.378000													30	55					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572237	140572237	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140572237G>A	ENST00000239446.4	+	1	296	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		38	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGACTGAGGAAACAGAGAA	0.498000													29	89					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959434	6959434	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:6959434C>T	ENST00000389658.3	-	54	7777	c.7684G>A	c.(7684-7686)Gat>Aat	p.D2562N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2562	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGTCCCATCCCCAGGATTG	0.522000													8	56					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285052	28285052	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:28285052C>T	ENST00000373894.3	+	8	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	SMPDL3B_ENST00000549094.1_Silent_p.L309L|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	357					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637000													18	58					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19246247	19246247	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:19246247G>A	ENST00000527884.1	-	13	2794	c.2562C>T	c.(2560-2562)gtC>gtT	p.V854V	E2F8_ENST00000250024.4_Silent_p.V854V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	854					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCGCTGTGGGACAAAGAGAG	0.418000													16	52					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582669	228582669	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:228582669A>C	ENST00000493030.2	-	5	4478	c.769T>G	c.(769-771)Ttc>Gtc	p.F257V	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.F382V			Q96F44	TRI11_HUMAN	tripartite motif containing 11	382					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CTCCCCAGGAAGACCAGGATC	0.637000													18	79					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445391	49445391	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:49445391G>A	ENST00000301067.7	-	10	2074	c.2075C>T	c.(2074-2076)cCa>cTa	p.P692L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTCCTCAGGTGGTGGGGAGAG	0.662000													17	81					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745406	135745406	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:135745406C>T	ENST00000375845.3	-	7	1066	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E363K|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E233K|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATATCCTCTTCCCTAACTGCA	0.363000													5	21					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135376074	135376074	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:135376074C>T	ENST00000354042.4	-	13	2008		c.e13-1		C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4							integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGGTTCTCTCCTGGATTAGAG	0.507000													13	43					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15365004	15365004	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15365004G>A	ENST00000263377.2	-	11	2338	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	BRD4_ENST00000360016.5_Missense_Mutation_p.S706F|BRD4_ENST00000371835.4_Missense_Mutation_p.S706F	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	706	Poly-Ser.|Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGACTCACTGGAGCTCTCCGA	0.537000			T	C15orf55	lethal midline carcinoma of young people								13	45					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73456957	73456957	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:73456957C>T	ENST00000252034.7	+	6	645	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ELN_ENST00000380575.4_Silent_p.F72F|ELN_ENST00000380553.4_Intron|ELN_ENST00000445912.1_Silent_p.F82F|ELN_ENST00000320399.6_Silent_p.F82F|ELN_ENST00000414324.1_Silent_p.F72F|ELN_ENST00000357036.5_Silent_p.F82F|ELN_ENST00000429192.1_Silent_p.F82F|ELN_ENST00000380576.5_Silent_p.F82F|ELN_ENST00000380562.4_Silent_p.F82F|ELN_ENST00000320492.7_Silent_p.F70F|ELN_ENST00000458204.1_Silent_p.F72F|ELN_ENST00000358929.4_Silent_p.F82F|ELN_ENST00000380584.4_Silent_p.F82F	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	82					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCGGCGCCTTCCCCGCAGTTA	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						22	46					0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161198754	161198754	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:161198754G>A	ENST00000367988.3	+	10	1065	c.796G>A	c.(796-798)Gat>Aat	p.D266N	TOMM40L_ENST00000545897.1_Missense_Mutation_p.D232N|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.D266N	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	266					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGCTTGGTGGATAGTAACTG	0.522000													32	76					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827783	72827783	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:72827783G>A	ENST00000268489.5	-	9	9470	c.8798C>T	c.(8797-8799)tCt>tTt	p.S2933F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2019F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2933					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTGCCTGCAGATCCACTCGC	0.498000													22	32					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535338	71535338	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:71535338G>A	ENST00000355327.3	+	5	949	c.815G>A	c.(814-816)gGg>gAg	p.G272E	THSD4_ENST00000261862.6_Missense_Mutation_p.G272E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	272	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACGGTGTGGGGACCCATGGG	0.557000													7	68					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133226278	133226278	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:133226278G>A	ENST00000320574.5	-	30	3823	c.3780C>T	c.(3778-3780)gcC>gcT	p.A1260A	POLE_ENST00000535270.1_Silent_p.A1233A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1260					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTTCCCAGGGCGGGAGGCT	0.622000								DNA polymerases (catalytic subunits)					56	104					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50137503	50137503	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:50137503C>T	ENST00000469838.1	+	5	592	c.428C>T	c.(427-429)tCc>tTc	p.S143F	RBM5_ENST00000347869.3_Intron			P52756	RBM5_HUMAN	RNA binding motif protein 5	0	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGCTTAGTTCCTGATATTAT	0.478000													7	7					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804350	27804350	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:27804350C>G	ENST00000408964.2	+	1	4962	c.4911C>G	c.(4909-4911)agC>agG	p.S1637R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1637	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCAGAGGAGCCATCGCGGTC	0.572000													34	140					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100076681	100076681	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:100076681G>A	ENST00000375202.2	+	20	1950	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.E197K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.E339K|CCDC180_ENST00000395220.1_Missense_Mutation_p.E339K|CCDC180_ENST00000529487.1_Missense_Mutation_p.E200K					coiled-coil domain containing 180																		GCAGGAAATGGAACCTCTCAT	0.522000													18	36					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199202	118199202	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:118199202C>T	ENST00000425217.1	-	4	567	c.513G>A	c.(511-513)agG>agA	p.R171R	KSR2_ENST00000339824.5_Silent_p.R200R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	200					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACGGGACCCTGGGGCTCT	0.672000													7	47					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211074	50211074	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:50211074G>A	ENST00000284509.6	-	19	2138	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A666V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	666					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTAATATTGGCTAGTGATAA	0.343000													24	61					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531774	71531774	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:71531774C>T	ENST00000393330.2	-	9	955	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TSPAN8_ENST00000247829.3_Missense_Mutation_p.E135K|TSPAN8_ENST00000552128.1_Missense_Mutation_p.E52K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.E135K			P19075	TSN8_HUMAN	tetraspanin 8	135					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.E135K(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATTGTTTTTCACTTTCCCCT	0.338000													20	52					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000544180.2_Silent_p.I429I|PYGL_ENST00000532462.1_Silent_p.I463I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	463					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.I463I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGTCTTCACGATGTCTGAGT	0.473000													40	111					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519160	113519160	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:113519160C>T	ENST00000284601.3	-	4	2055	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	663					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						CTTGATTTTCCCTGACTTTCC	0.363000													25	93					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141008926	141008926	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:141008926C>T	ENST00000277549.5	+	41	5784	c.3215C>T	c.(3214-3216)cCt>cTt	p.P1072L	CACNA1B_ENST00000277551.2_Missense_Mutation_p.P1878L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P1878L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P1879L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P1877L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P1876L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1878					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGCAGGCTCCTGGAGGCCTC	0.562000													4	7					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30892226	30892226	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:30892226C>T	ENST00000321897.5	+	25	3194	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.A714A|VARS2_ENST00000541562.1_Silent_p.A884A|VARS2_ENST00000416670.2_Silent_p.A854A			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	854					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCCTCCTGGCCCCACTGATGC	0.716000													15	42					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208808	140208808	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140208808G>A	ENST00000529310.1	+	1	1246	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D378N|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACCTCGATTCAGGTGC	0.517000													53	147					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807144	233807144	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:233807144C>T	ENST00000366621.3	+	3	1047	c.879C>T	c.(877-879)atC>atT	p.I293I	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.I177I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	293						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	AGGTGCACATCATAGAGCATG	0.463000													10	31					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427948	47427948	+	Silent	SNP	G	G	A	rs79262532		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:47427948G>A	ENST00000295454.3	+	9	1630	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	GABRB1_ENST00000538619.1_Silent_p.V376V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	446					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGACTGATGTGAATTCCATAG	0.527000													31	92					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979887	89979887	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:89979887G>A	ENST00000405460.2	+	28	6245	c.6149G>A	c.(6148-6150)gGa>gAa	p.G2050E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2050	Calx-beta 14.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCTTTTTGGAGCTAATCAG	0.383000													19	59					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15627591	15627591	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:15627591G>A	ENST00000338950.5	-	5	443	c.338C>T	c.(337-339)tCc>tTc	p.S113F	DTNBP1_ENST00000355917.3_Missense_Mutation_p.S113F|DTNBP1_ENST00000344537.5_Missense_Mutation_p.S113F	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	113					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TGCTGTCATGGATTCTAAGTC	0.443000									Hermansky-Pudlak syndrome				14	39					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164730793	164730793	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:164730793G>A	ENST00000264382.3	-	34	4099	c.4037C>T	c.(4036-4038)aCt>aTt	p.T1346I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1346	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCCGTTAGAGTTTTATCTAT	0.328000										HNSCC(35;0.089)			12	58					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113444370	113444370	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:113444370G>A	ENST00000392583.2	+	8	1828	c.1621G>A	c.(1621-1623)Gat>Aat	p.D541N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.D541N	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	541	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAAACTAAAGGATTTAATTCG	0.458000													21	96					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34161572	34161572	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:34161572C>T	ENST00000588240.1	+	9	758	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	TAF15_ENST00000311979.3_Missense_Mutation_p.H212Y|TAF15_ENST00000592237.1_Missense_Mutation_p.H124Y	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	215					positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCCCTTAGGTCACAGGGATTA	0.313000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								12	36					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503820	51503820	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51503820C>T	ENST00000600767.1	-	4	579	c.90G>A	c.(88-90)gaG>gaA	p.E30E	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Silent_p.E75E|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000291726.7_Silent_p.E30E|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000320838.5_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	30					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GCACCTTGTCCTCCTGTGCCC	0.632000													16	59					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55768834	55768834	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:55768834C>T	ENST00000288221.6	-	15	2932	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	893						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGTCTTTTTCCCGCTTGAGG	0.483000													6	25					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588450	93588450	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:93588450G>A	ENST00000329082.7	-	4	1402	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A	RGMA_ENST00000557301.1_Silent_p.A385A|RGMA_ENST00000543599.1_Silent_p.A361A|RGMA_ENST00000542321.2_Silent_p.A361A|RGMA_ENST00000538818.1_Silent_p.A268A|RGMA_ENST00000425933.2_Silent_p.A361A|RGMA_ENST00000556658.1_Silent_p.A268A|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	377					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGAAGACGCAGGCCTGGTAGT	0.612000													8	12					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777563	141777563	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:141777563G>A	ENST00000389484.3	-	12	2869	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	633					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCGACTCTGAGAAGCTTTTTC	0.418000										TSP Lung(27;0.18)			14	73					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949922	56949922	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:56949922C>T	ENST00000497933.1	+	1	702	c.555C>T	c.(553-555)atC>atT	p.I185I		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	155						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TAGTCCACATCGACCTGAGCC	0.612000													10	38					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143086960	143086960	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:143086960C>T	ENST00000322764.5	+	9	1849	c.1504C>T	c.(1504-1506)Ccg>Tcg	p.P502S	ZYX_ENST00000449423.2_Missense_Mutation_p.P415S|ZYX_ENST00000392910.2_Missense_Mutation_p.P345S	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	502	LIM zinc-binding 2.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCAGTACGCCCCGAGGTGCTC	0.607000													12	54					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21148719	21148719	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:21148719C>T	ENST00000377122.4	-	8	1117	c.721G>A	c.(721-723)Gat>Aat	p.D241N	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	241					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTTTCTTATCCTTCATTTCA	0.299000													6	14					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39068779	39068779	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:39068779C>T	ENST00000379907.4	+	12	1296	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	390					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAAAAATCTCCGAAACCAGTC	0.358000													7	5					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62299433	62299433	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:62299433G>A	ENST00000371158.2	+	17	2202	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	INADL_ENST00000316485.6_Silent_p.L696L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	696	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTAAAGGTTTGGGATTCAGCA	0.368000													18	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433788	179433788	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179433788C>T	ENST00000589042.1	-	326	77295	c.77071G>A	c.(77071-77073)Gat>Aat	p.D25691N	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23123N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24050N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16626N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16818N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16751N|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24050	Ig-like 125.						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)			TTAATTGGATCAGCAGTCTGG	0.438000													23	83					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120744192	120744192	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:120744192G>A	ENST00000378164.2	-	26	3870	c.3572C>T	c.(3571-3573)tCt>tTt	p.S1191F		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1191					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGAACGAATAGACCTGCCACT	0.428000													47	55					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035353	160035353	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:160035353C>T	ENST00000263635.6	+	14	2426	c.2189C>T	c.(2188-2190)cCc>cTc	p.P730L	TANC1_ENST00000454300.1_Missense_Mutation_p.P624L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	730						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGGTGGTGCCCGTGTCTCTC	0.562000													32	130					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16472743	16472743	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:16472743G>A	ENST00000455140.2	-	23	2499	c.2433C>T	c.(2431-2433)ccC>ccT	p.P811P	EPS15L1_ENST00000535753.2_3'UTR|EPS15L1_ENST00000594975.1_3'UTR|EPS15L1_ENST00000248070.6_Silent_p.P811P	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	811	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGAATGGATCGGGGGCCTCGG	0.498000													7	25					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137269	40137269	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:40137269C>T	ENST00000278198.2	-	2	2537	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	LRRC4C_ENST00000530763.1_Missense_Mutation_p.A192T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A192T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A192T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	192					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCTTCAAAGGCACCTTCTGAG	0.443000													4	47					0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19231575	19231575	+	Splice_Site	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19231575C>A	ENST00000450333.2	-	9	913	c.877_splice	c.e9+1	p.L292_splice	TMEM161A_ENST00000587583.2_Splice_Site_p.L370_splice|TMEM161A_ENST00000162044.9_Splice_Site_p.L395_splice	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	395					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCATCTCACCCAGCGTCTTGA	0.627000													20	57					3.5997e-14	3.67718e-14	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112566715	112566715	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:112566715G>A	ENST00000341068.3	-	29	4413	c.3641C>T	c.(3640-3642)gCt>gTt	p.A1214V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1214					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGTTTTGCAGCAGAAACACC	0.423000													10	32					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287544	46287544	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:46287544C>T	ENST00000378966.3	+	2	692	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SPERT_ENST00000310521.1_Silent_p.F128F			Q8NA61	SPERT_HUMAN	spermatid associated	128						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACGAGATGTTCGTGTTCCAGG	0.632000													7	86					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243801	43243801	+	Missense_Mutation	SNP	C	C	T	rs148232674	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:43243801C>T	ENST00000255226.6	+	11	2219	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	SLC14A2_ENST00000586448.1_Missense_Mutation_p.S468L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	468						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGAGGGCTCGGAGGCTGTG	0.602000													6	39					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323701	158323701	+	Translation_Start_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:158323701G>A	ENST00000444681.2	+	0	216				CD1E_ENST00000368165.3_De_novo_Start_OutOfFrame|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368167.3_De_novo_Start_OutOfFrame|CD1E_ENST00000368166.3_De_novo_Start_OutOfFrame|CD1E_ENST00000452291.2_De_novo_Start_OutOfFrame|CD1E_ENST00000368163.3_De_novo_Start_OutOfFrame	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGTGCAAGAGGGTGTGGAGAG	0.522000													9	9					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682870	47682870	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:47682870C>T	ENST00000283303.2	+	6	2147	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	GPR115_ENST00000371220.1_Missense_Mutation_p.S687F|GPR115_ENST00000327753.3_Missense_Mutation_p.S630F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	630					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAAGGCACTTCCTTGACGTTC	0.443000													31	71					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488831	19488831	+	Silent	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:19488831T>A	ENST00000396229.2	+	13	2909	c.2160T>A	c.(2158-2160)tcT>tcA	p.S720S	TMC5_ENST00000381414.4_Silent_p.S720S|TMC5_ENST00000561503.1_Silent_p.S361S|TMC5_ENST00000542583.2_Silent_p.S720S|TMC5_ENST00000219821.5_Silent_p.S474S|TMC5_ENST00000541464.1_Silent_p.S668S|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000564959.1_Silent_p.S403S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	720						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCCCTGTCTGGTGAAGAGG	0.418000													19	76					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295722	212295722	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:212295722A>G	ENST00000342788.4	-	21	2901	c.2591T>C	c.(2590-2592)cTa>cCa	p.L864P	ERBB4_ENST00000436443.1_Missense_Mutation_p.L864P|ERBB4_ENST00000402597.1_Missense_Mutation_p.L854P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	864	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGTCTGGCTAGCCCAAAATC	0.403000										TSP Lung(8;0.080)			38	74					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47558458	47558458	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:47558458G>A	ENST00000355384.2	-	11	1406	c.1363C>T	c.(1363-1365)Ccg>Tcg	p.P455S	FTCD_ENST00000397743.1_Missense_Mutation_p.P455S|FTCD_ENST00000397746.3_Silent_p.A469A|FTCD_ENST00000359679.2_Silent_p.A469A|FTCD_ENST00000397748.1_Silent_p.A469A|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Silent_p.A469A			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	0	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCCCACACCGGGCCAGTTCCT	0.721000													4	12					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948580	7948580	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7948580C>T	ENST00000380183.4	+	7	1013	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	ALOX15B_ENST00000572022.1_Missense_Mutation_p.H292Y|ALOX15B_ENST00000573359.1_Missense_Mutation_p.H292Y|ALOX15B_ENST00000380173.2_Missense_Mutation_p.H292Y	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	292	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTTGGTGGATCACGGCATCCT	0.557000													28	88					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58564169	58564169	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:58564169G>A	ENST00000317147.5	-	43	6592	c.6260C>T	c.(6259-6261)cCt>cTt	p.P2087L	CNOT1_ENST00000245138.4_Missense_Mutation_p.P938L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2082L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2087					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GATTTGCATAGGTTTGGTGAG	0.328000													4	55					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35207254	35207254	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:35207254C>T	ENST00000373874.2	+	2	276	c.77C>T	c.(76-78)cCc>cTc	p.P26L	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.P26L|TGIF2_ENST00000373872.4_Missense_Mutation_p.P26L	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	26						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGAACCTGCCCAAGGAGTCG	0.612000													24	76					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357361	13357361	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:13357361G>A	ENST00000276297.4	-	2	629	c.220C>T	c.(220-222)Cct>Tct	p.P74S	DLC1_ENST00000316609.5_Missense_Mutation_p.P74S|DLC1_ENST00000511869.1_Missense_Mutation_p.P74S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	74					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCCTCCCAGGAAAATCTCTC	0.458000													62	277					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015026	53015026	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:53015026C>T	ENST00000421239.2	+	6	1636	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACAGAGTTTTCAGTCAGAAAT	0.393000													15	30					0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866236	40866236	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:40866236C>T	ENST00000315616.7	+	3	1452	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	RPUSD2_ENST00000559271.1_Missense_Mutation_p.P411S	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	472					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGAGGCAGCCCCTCAGGAGTT	0.557000													9	65					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41845064	41845064	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:41845064G>A	ENST00000396930.3	-	4	1161	c.618C>T	c.(616-618)atC>atT	p.I206I	KAT6A_ENST00000406337.1_Silent_p.I206I|KAT6A_ENST00000485568.1_Silent_p.I206I|KAT6A_ENST00000265713.2_Silent_p.I206I	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	206					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TACAGATGGGGATTGGTTCAG	0.373000													110	186					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88123561	88123561	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:88123561C>T	ENST00000507897.1	+	4	309	c.226C>T	c.(226-228)Cca>Tca	p.P76S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.P76S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	76										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TACTAAAAATCCATCCCTGGA	0.313000													11	27					0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524201	108524201	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:108524201G>A	ENST00000379007.2	-	2	265	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	71						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						ATCATGTGACGATATTGAGCT	0.418000													16	48					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19127496	19127496	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:19127496G>A	ENST00000252137.6	-	4	485	c.442C>T	c.(442-444)Cta>Tta	p.L148L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	148					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AAGACATCTAGGCTGGGCAGC	0.607000													32	97					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594188	136594188	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:136594188G>A	ENST00000264162.2	-	1	562	c.552C>T	c.(550-552)caC>caT	p.H184H		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	184	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGATTCCTGGTGGGGAAGCT	0.512000													17	52					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3661039	3661039	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:3661039G>A	ENST00000335312.3	-	5	481	c.393C>T	c.(391-393)ttC>ttT	p.F131F	PIP5K1C_ENST00000589578.1_Silent_p.F131F|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.F131F|PIP5K1C_ENST00000537021.1_Silent_p.F131F	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	131	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTTGAAGCGGAAGTCCTGGA	0.597000													36	163					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552888	43552888	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:43552888G>A	ENST00000430334.3	-	4	634	c.501C>T	c.(499-501)ttC>ttT	p.F167F	PLEKHM1_ENST00000421073.2_Silent_p.F78F	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	167	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGCCCTGCAGGAAGCTAAGGA	0.607000													11	56					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19653754	19653754	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19653754G>A	ENST00000586018.1	+	6	1070	c.968G>A	c.(967-969)gGg>gAg	p.G323E	CILP2_ENST00000291495.4_Missense_Mutation_p.G317E			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	317	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AAAGCCTCCGGGACCCCCATG	0.562000													25	83					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251629	24251629	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:24251629G>A	ENST00000538205.1	+	5	642	c.95G>A	c.(94-96)gGa>gAa	p.G32E	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G111E|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G32E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	111					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCACCCAGAGGAGAGGAAATT	0.453000													12	60					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597230	75597230	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:75597230G>A	ENST00000502798.2	+	12	2302	c.1860G>A	c.(1858-1860)tcG>tcA	p.S620S	SV2C_ENST00000322285.7_Silent_p.S620S|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	620					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGTGCTTTCGGGGATCAGCT	0.488000													27	103					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77317424	77317424	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:77317424C>T	ENST00000388914.3	-	3	438	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CCDC158_ENST00000434846.2_Missense_Mutation_p.E96K|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	96								p.E96K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAACTCACTTCATTTAGTCTT	0.393000													9	22					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98205973	98205973	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:98205973G>A	ENST00000370192.3	-	4	396	c.296C>T	c.(295-297)tCa>tTa	p.S99L	DPYD_ENST00000306031.5_Missense_Mutation_p.S99L|DPYD_ENST00000423006.2_Missense_Mutation_p.S62L	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	99	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTGATGAATGATTTAATATC	0.328000													32	75					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474442	145474442	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:145474442C>T	ENST00000323397.4	+	4	2407	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	372	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTGACCCTCCCTCCAGCCGG	0.692000													4	31					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50713684	50713684	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:50713684C>T	ENST00000440075.2	+	2	109	c.62C>T	c.(61-63)cCc>cTc	p.P21L	MYH14_ENST00000601313.1_Missense_Mutation_p.P21L|MYH14_ENST00000425460.1_Missense_Mutation_p.P21L|MYH14_ENST00000596571.1_Missense_Mutation_p.P21L|MYH14_ENST00000262269.8_Missense_Mutation_p.P21L|MYH14_ENST00000376970.2_Missense_Mutation_p.P21L|MYH14_ENST00000598205.1_Missense_Mutation_p.P21L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	21	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCCAGTGCCCGAGGCGGCC	0.756000													5	8					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834396	101834396	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:101834396C>T	ENST00000263468.8	+	6	2900	c.2630C>T	c.(2629-2631)tCa>tTa	p.S877L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S678L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	877							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCACTGCCATCATATTGTTCT	0.418000													11	30					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348089	91348089	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:91348089C>T	ENST00000358859.2	-	1	864	c.431G>A	c.(430-432)gGc>gAc	p.G144D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.G144D(1)									GCCTCTGCGGCCCCAGCGCTT	0.697000													7	30					0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88226426	88226426	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:88226426G>A	ENST00000328546.4	-	7	911	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	HSD17B13_ENST00000302219.6_Missense_Mutation_p.R247C	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	283						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTCTGCATACGATTTAAAATC	0.323000													7	19					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173886390	173886390	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:173886390G>A	ENST00000367698.3	-	1	126	c.8C>T	c.(7-9)tCc>tTc	p.S3F	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	3					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TATCACATTGGAATACATGGC	0.502000													8	25					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	831774	831774	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:831774C>T	ENST00000233997.2	+	5	674	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	218	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCTTTTCCCTGGGGCCC	0.711000													12	41					0	0	1	0	0
SUMO4	387082	broad.mit.edu	37	6	149721676	149721676	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:149721676C>T	ENST00000326669.4	+	1	182	c.149C>T	c.(148-150)cCa>cTa	p.P50L	TAB2_ENST00000536230.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000367456.1_Intron	NM_001002255.1	NP_001002255.1	Q6EEV6	SUMO4_HUMAN	small ubiquitin-like modifier 4	50	Ubiquitin-like.									breast(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		TATTGTGAACCACGGGGATTG	0.438000													33	92					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193049023	193049023	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:193049023C>T	ENST00000342358.4	-	12	1467	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	450					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCCTATGGTCAGGGCAGCTG	0.493000													12	49					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56589829	56589829	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:56589829G>A	ENST00000323456.5	-	4	256	c.132C>T	c.(130-132)ttC>ttT	p.F44F	MTMR4_ENST00000579925.1_Silent_p.F44F	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	44						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.F44F(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCGGCCCAGGAACTCTACTC	0.522000													16	56					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135376073	135376073	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:135376073C>T	ENST00000354042.4	-	13	2008	c.1318_splice	c.e13-1	p.G440_splice	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	440						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTGGTTCTCTCCTGGATTAGA	0.512000													13	44					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48790109	48790109	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:48790109C>T	ENST00000595607.1	+	6	1722	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	ZNF114_ENST00000315849.1_Missense_Mutation_p.H410Y|ZNF114_ENST00000597695.1_Missense_Mutation_p.H376Y|ZNF114_ENST00000600687.1_Missense_Mutation_p.H410Y			Q8NC26	ZN114_HUMAN	zinc finger protein 114	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TCTTAAGACTCACAAAGATGA	0.383000													18	40					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872095	108872095	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:108872095C>T	ENST00000376700.1	+	4	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SULT1C3_ENST00000329106.2_Missense_Mutation_p.S156F			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	156						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AGGATGGCTTCCTTTATGCCT	0.443000													27	56					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249048	140249048	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140249048C>T	ENST00000398640.2	+	1	360	c.360C>T	c.(358-360)aaC>aaT	p.N120N	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATGTGAACGTGGAGGTGA	0.572000													62	167					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14559340	14559340	+	RNA	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:14559340G>A	ENST00000273083.3	-	0	1160							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGGCCGGGCCGGGGGCTGTGG	0.637000													4	9					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521315	131521315	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:131521315C>T	ENST00000423981.1	+	2	1780	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	AMER3_ENST00000321420.4_Missense_Mutation_p.A557V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCAGGGGGGGCGACAGTTTGC	0.701000													4	20					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393000													18	66					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114994483	114994483	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:114994483G>A	ENST00000334318.6	-	10	1195	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	PTBP3_ENST00000458258.1_Missense_Mutation_p.P340S|PTBP3_ENST00000374257.1_Missense_Mutation_p.P306S|PTBP3_ENST00000374255.2_Missense_Mutation_p.P334S|PTBP3_ENST00000343327.2_Missense_Mutation_p.P239S	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	334					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										ATTGTGAGAGGACCAAGAGCT	0.408000													10	24					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52442571	52442571	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:52442571G>A	ENST00000460680.1	-	4	645	c.174C>T	c.(172-174)tcC>tcT	p.S58S	BAP1_ENST00000296288.5_Silent_p.S58S	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	58					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S58fs*8(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTTTCGCCGGGACCGGCGCT	0.502000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							4	13					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107869518	107869518	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:107869518A>T	ENST00000328300.6	+	36	3429	c.3185A>T	c.(3184-3186)aAa>aTa	p.K1062I	COL4A5_ENST00000361603.2_Missense_Mutation_p.K1062I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1062	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGACAGAAAGGCGACAAA	0.483000									Alport syndrome with Diffuse Leiomyomatosis				25	37					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919329	54919329	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:54919329C>T	ENST00000474759.1	+	22	1982	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P551L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P645L|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P645L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	645						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTAGAACATCCCGATGTGTCC	0.483000													24	82					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14645906	14645906	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:14645906G>A	ENST00000437198.2	-	21	1593	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	PARN_ENST00000420015.2_Silent_p.S438S|PARN_ENST00000539279.1_Silent_p.S309S|PARN_ENST00000341484.7_Silent_p.S423S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	484					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GCTGGCTAAGGGAAACAAATG	0.398000													21	143					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4409738	4409738	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:4409738G>A	ENST00000254436.7	-	4	639	c.527C>T	c.(526-528)tCt>tTt	p.S176F	TRIM21_ENST00000543625.1_Missense_Mutation_p.S176F	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	176					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGAATCCTAGATTTCTGTGT	0.453000													58	218					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183776271	183776271	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:183776271C>T	ENST00000318351.1	+	6	650	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	206						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACACGTCTCGCAAAGTCAT	0.547000													12	31					0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38340481	38340481	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:38340481C>T	ENST00000249079.2	-	6	781	c.525G>A	c.(523-525)atG>atA	p.M175I	C22orf23_ENST00000403026.1_Missense_Mutation_p.M175I|C22orf23_ENST00000403305.1_Missense_Mutation_p.M175I			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	175										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCAGGGCCTCCATGTCAGCCA	0.572000													16	27					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947499	40947499	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:40947499G>A	ENST00000246914.5	+	15	3003	c.2982G>A	c.(2980-2982)cgG>cgA	p.R994R		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	994					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCTGCTCGGCCCCTCCCAG	0.582000													34	108					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:55932118C>T	ENST00000244728.5	-	23	2499	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000													7	33					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58724359	58724359	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:58724359C>T	ENST00000326804.4	+	9	2268	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	ZNF274_ENST00000424679.2_Silent_p.S498S|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.S571S	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	604					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GCCAGAGCTCCCACCTCATCA	0.562000													20	65					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505183	159505183	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:159505183C>T	ENST00000334857.2	-	1	659	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCACAAAAATCACAAATGAAC	0.398000													10	49					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028917	68028917	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:68028917C>A	ENST00000329153.5	+	7	701	c.569C>A	c.(568-570)tCt>tAt	p.S190Y		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	190						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAGCAGGATTCTGTCCCTTCA	0.592000													3	13					0.150653	0.151051	1	1	0
IGHV3-66	28412	broad.mit.edu	37	14	107131453	107131453	+	RNA	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:107131453A>G	ENST00000390632.2	-	0	107																											AATAGCAACAAGGAAAACCCA	0.473000													6	97					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436596	85436596	+	Missense_Mutation	SNP	G	G	A	rs115359501	by1000genomes	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:85436596G>A	ENST00000359152.5	-	1	2475	c.2476C>T	c.(2476-2478)Cct>Tct	p.P826S	SYTL2_ENST00000354566.3_Missense_Mutation_p.P302S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P302S|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	331	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ACTGGAAAAGGAGCTAGTATT	0.418000													26	82					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94109937	94109937	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:94109937G>A	ENST00000553484.1	+	36	6275	c.6121G>A	c.(6121-6123)Gat>Aat	p.D2041N	UNC79_ENST00000256339.4_Missense_Mutation_p.D1842N|UNC79_ENST00000393151.2_Missense_Mutation_p.D2019N|UNC79_ENST00000555664.1_Missense_Mutation_p.D1980N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2019						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAAGAATACGATGAAGAGAC	0.468000													20	49					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24431891	24431891	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:24431891G>A	ENST00000398319.2	+	2	311		c.e2-1		CABIN1_ENST00000263119.5_Splice_Site|CABIN1_ENST00000405822.2_Splice_Site	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1						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						TTCCTTTCTAGGAGAGTTGTG	0.507000													5	34					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289232	46289232	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:46289232G>A	ENST00000270223.6	-	3	1567	c.1522C>T	c.(1522-1524)Ccg>Tcg	p.P508S	DMWD_ENST00000377735.3_Missense_Mutation_p.P508S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	508					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCACACCCGGGCCGCCCGCC	0.726000													14	22					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87755799	87755799	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:87755799C>T	ENST00000320005.5	-	1	104	c.57G>A	c.(55-57)gaG>gaA	p.E19E	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	19					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTGTTCATTCTCATTGTTCT	0.433000													35	48					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442873	92442873	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:92442873C>T	ENST00000370389.2	+	6	1597	c.673C>T	c.(673-675)Cct>Tct	p.P225S	BRDT_ENST00000402388.1_Missense_Mutation_p.P298S|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Missense_Mutation_p.P252S|BRDT_ENST00000362005.3_Missense_Mutation_p.P298S|BRDT_ENST00000399546.2_Missense_Mutation_p.P298S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTTTATAATCCTGTTGACGT	0.353000													14	59					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357624	70357624	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:70357624C>T	ENST00000333646.6	+	41	6083	c.5884C>T	c.(5884-5886)Cct>Tct	p.P1962S	MED12_ENST00000374102.1_Missense_Mutation_p.P1958S|MED12_ENST00000374080.3_Missense_Mutation_p.P1959S|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1959	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACACACAGGCCCTGCAGGTAC	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	24					0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45487419	45487419	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:45487419G>A	ENST00000334940.6	+	10	1035	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	RASSF4_ENST00000340258.4_Missense_Mutation_p.E292K|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	292	SARAH.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAAGAAGAGGAAGAAAGAGA	0.398000													7	26					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129103951	129103951	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:129103951A>C	ENST00000249344.2	+	15	1658	c.1618A>C	c.(1618-1620)Atc>Ctc	p.I540L	STRIP2_ENST00000435494.2_Missense_Mutation_p.I540L	NM_020704.2	NP_065755.1			striatin interacting protein 2																		CTCTATCAATATCCTGGCAGA	0.493000													6	39					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037749	50037749	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:50037749C>T	ENST00000261897.1	+	24	2997	c.2446C>T	c.(2446-2448)Cct>Tct	p.P816S	PRPF40B_ENST00000380281.1_Missense_Mutation_p.P829S|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P850S|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	829					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGCAGAGCTCCCTAACCGTTC	0.572000													12	79					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875217	96875217	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:96875217G>A	ENST00000267584.4	+	4	481	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	146					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTGAAAAGCGAAAGCTATTT	0.468000													14	21					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262552	158262552	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:158262552T>A	ENST00000368170.3	+	4	1056	c.777T>A	c.(775-777)gaT>gaA	p.D259E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	259	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTAATGCTGATGGGACATGGT	0.527000													17	58					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749472	139749472	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139749472G>A	ENST00000445819.1	+	10	1157	c.1107G>A	c.(1105-1107)cgG>cgA	p.R369R	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.R369R			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	369	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		gcgccccccgggcccccgTCC	0.672000													5	32					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118039386	118039386	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:118039386C>T	ENST00000356554.3	+	10	2021	c.1284_splice	c.e10-1	p.A429_splice		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	429					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTCCTGTAGGCTATAGAAAAA	0.353000													16	65					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165832185	165832185	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:165832185G>A	ENST00000366882.1	-	12	1060	c.906C>T	c.(904-906)gaC>gaT	p.D302D	PDE10A_ENST00000539869.2_Silent_p.D312D|PDE10A_ENST00000354448.4_Silent_p.D302D			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	302	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.D302E(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TATCAAAAAGGTCTGAATATA	0.388000													17	27					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46671807	46671807	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:46671807G>A	ENST00000434074.1	+	6	1087	c.398G>A	c.(397-399)aGg>aAg	p.R133K	ATG13_ENST00000528494.1_Missense_Mutation_p.R133K|ATG13_ENST00000312040.4_Missense_Mutation_p.R133K|ATG13_ENST00000451945.1_Missense_Mutation_p.R133K|ATG13_ENST00000526508.1_Missense_Mutation_p.R133K|ATG13_ENST00000524625.1_Missense_Mutation_p.R133K|ATG13_ENST00000359513.4_Missense_Mutation_p.R133K|ATG13_ENST00000530500.1_Missense_Mutation_p.R54K|ATG13_ENST00000529655.1_Missense_Mutation_p.R133K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	133					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCTATAACTAGGGTGACACCA	0.428000													15	76					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18625312	18625312	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:18625312G>A	ENST00000399799.1	-	5	1471	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	177	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGCAGTATAGAATCGTGCCC	0.378000													9	30					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47237949	47237949	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:47237949T>C	ENST00000300404.2	+	7	951	c.892T>C	c.(892-894)Ttt>Ctt	p.F298L	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.F212L|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.F238L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	298					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGTGGCCAAGTTTCCAGTGAC	0.557000													67	195					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123276927	123276927	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:123276927C>T	ENST00000358487.5	-	8	1262	c.990G>A	c.(988-990)cgG>cgA	p.R330R	FGFR2_ENST00000357555.5_Silent_p.R241R|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Silent_p.R330R|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000346997.2_Silent_p.R330R|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000478859.1_Silent_p.R102R|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000356226.4_Silent_p.R215R|FGFR2_ENST00000457416.2_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	330	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AAGTTACATTCCGAATATAGA	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				14	28					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63666288	63666288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:63666288C>T	ENST00000402010.2	+	6	1036	c.457C>T	c.(457-459)Cga>Tga	p.R153*	MARK2_ENST00000425897.2_Nonsense_Mutation_p.R120*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.R120*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.R153*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.R120*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.R153*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.R120*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.R153*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.R153*|MARK2_ENST00000509502.2_Nonsense_Mutation_p.R120*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.R153*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.R153*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.R153*	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	153	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAAGAGGCTCGAGCCAAATT	0.517000													17	38					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480641	57480641	+	Silent	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:57480641T>G	ENST00000371236.2	-	12	1622	c.1359A>C	c.(1357-1359)gcA>gcC	p.A453A	DAB1_ENST00000414851.2_Silent_p.A435A|DAB1_ENST00000371234.4_Silent_p.A453A|DAB1_ENST00000371231.1_Silent_p.A486A|DAB1_ENST00000439789.2_Silent_p.A367A|DAB1_ENST00000420954.2_Silent_p.A451A|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	486					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGTATCCTGTGCCACCCCGA	0.577000													26	56					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200948779	200948779	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:200948779G>A	ENST00000332129.2	-	29	4321	c.4005C>T	c.(4003-4005)ccC>ccT	p.P1335P	KIF21B_ENST00000461742.2_Silent_p.P1348P|KIF21B_ENST00000360529.5_Silent_p.P1335P|KIF21B_ENST00000422435.2_Silent_p.P1348P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1348					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACGTTGTTGGGGTGGCCCT	0.577000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	253					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772144	109772144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:109772144C>T	ENST00000369923.4	+	4	408	c.397C>T	c.(397-399)Cga>Tga	p.R133*	SARS_ENST00000234677.2_Nonsense_Mutation_p.R133*			P49591	SYSC_HUMAN	seryl-tRNA synthetase	133					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGAGAACCTCCGAGAGATTGG	0.527000													44	147					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60741265	60741265	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:60741265G>A	ENST00000261520.4	-	10	2135	c.1901C>T	c.(1900-1902)cCt>cTt	p.P634L	NARG2_ENST00000439632.1_Missense_Mutation_p.P497L	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	634						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCGTTTGATAGGTTTTTTTAA	0.383000													9	39					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4720287	4720287	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:4720287C>T	ENST00000263088.6	+	16	1769	c.1638C>T	c.(1636-1638)gtC>gtT	p.V546V	PLD2_ENST00000572940.1_Silent_p.V546V	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	546	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TTGGGGTGGTCGTCCATGGCC	0.632000													19	62					0	0	1	0	0
NBPF18P	441908	broad.mit.edu	37	1	151993688	151993688	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:151993688C>T	ENST00000432386.1	+	0	2523					NR_103561.1																						GAGAGCTGGCCTGGTTAAGGA	0.483000													10	68					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33005010	33005010	+	Splice_Site	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:33005010A>T	ENST00000280979.4	+	3	745	c.576_splice	c.e3+1	p.E192_splice	AKAP6_ENST00000557272.1_Splice_Site_p.E192_splice|AKAP6_ENST00000557354.1_Splice_Site_p.E192_splice	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	192					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGACAAAAGAGGTGAGTGTT	0.443000													22	67					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921094	24921094	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:24921094C>T	ENST00000329468.2	+	1	554	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCCCCGCTCCCCTGTCCCGG	0.701000													5	22					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703794	60703794	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:60703794G>A	ENST00000005286.4	+	11	2643	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E	TMEM132A_ENST00000453848.2_Silent_p.E829E	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	829	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						Gggaggaggaggaggaagagg	0.627000													29	84					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189923166	189923166	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:189923166C>T	ENST00000374866.3	-	33	2492	c.2218G>A	c.(2218-2220)Gat>Aat	p.D740N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	740					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTGGGCCATCAGGACCATGT	0.433000													15	40					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63855104	63855104	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:63855104G>A	ENST00000268049.7	+	9	916	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	USP3_ENST00000536001.1_Missense_Mutation_p.R154K|USP3_ENST00000559711.1_Missense_Mutation_p.E131K|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000380324.3_Missense_Mutation_p.E220K|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.E203K|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.E176K			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	220					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		GTCTTTGGTAGAAGAGTTTAG	0.418000													25	101					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542962	154542962	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:154542962G>A	ENST00000409663.3	+	28	3869	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K	KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1190K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1274K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1273						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGCAGATGCCGAAATTGCAAG	0.448000													14	33					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772143	109772143	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:109772143C>T	ENST00000369923.4	+	4	407	c.396C>T	c.(394-396)ctC>ctT	p.L132L	SARS_ENST00000234677.2_Silent_p.L132L			P49591	SYSC_HUMAN	seryl-tRNA synthetase	132					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TTGAGAACCTCCGAGAGATTG	0.527000													43	146					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136511	104136511	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:104136511C>T	ENST00000369983.3	+	32	4499	c.4239C>T	c.(4237-4239)ctC>ctT	p.L1413L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1413					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACTTTGAGCTCTGCGTCAAGA	0.547000													20	31					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33048118	33048118	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:33048118C>T	ENST00000397149.3	-	11	1479	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	SMU1_ENST00000536631.1_Missense_Mutation_p.E316K	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	477						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AAAGTTCTCTCCAGTTTGCCA	0.443000													8	31					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482856	71482856	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:71482856G>A	ENST00000393539.2	-	6	1885	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000357254.4_Missense_Mutation_p.H358Y|ZNF23_ENST00000564528.1_Missense_Mutation_p.H300Y|ZNF23_ENST00000428724.2_Missense_Mutation_p.H300Y|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.H358Y|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCTCCTGTGTGGATGCTCTGA	0.428000													15	22					0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13054702	13054702	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:13054702C>T	ENST00000316448.5	+	9	1302	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	410	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	gaagatgTCCCCGGCCAGGCC	0.592000													4	4					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712963	218712963	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:218712963G>A	ENST00000171887.4	-	17	2354	c.1902C>T	c.(1900-1902)gtC>gtT	p.V634V	TNS1_ENST00000419504.1_Silent_p.V634V|TNS1_ENST00000430930.1_Silent_p.V634V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	634						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCCCCCTCGGACCGGAGCTG	0.647000													15	46					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851965	26851965	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:26851965G>A	ENST00000226247.2	+	2	597	c.568G>A	c.(568-570)Gag>Aag	p.E190K	FOXN1_ENST00000579795.1_Missense_Mutation_p.E190K	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	190					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	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 activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCAGCCAGGAGCATGGCCC	0.627000													7	28					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397744	10397744	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:10397744G>A	ENST00000393717.2	+	1	65	c.56G>A	c.(55-57)gGa>gAa	p.G19E	ICAM4_ENST00000380770.3_Missense_Mutation_p.G19E|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.G19E	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	19				AAAYPGVGSALGRRTK -> RPPTRELGARWDAGL (in Ref. 1; AAA59538/AAA59537).	cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCTACCCGGGAGTTGGGAGC	0.677000													5	5					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266309	38266309	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:38266309G>A	ENST00000379705.3	-	4	1918	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L	TRPC4_ENST00000379681.3_Missense_Mutation_p.P354L|TRPC4_ENST00000358477.2_Missense_Mutation_p.P354L|TRPC4_ENST00000355779.2_Missense_Mutation_p.P354L|TRPC4_ENST00000426868.2_Missense_Mutation_p.P354L|TRPC4_ENST00000447043.1_Missense_Mutation_p.P354L|TRPC4_ENST00000379673.2_Missense_Mutation_p.P354L|TRPC4_ENST00000379679.1_Missense_Mutation_p.P181L|TRPC4_ENST00000338947.5_Missense_Mutation_p.P181L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	354					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGTCCAAGTGGGCTTTTGGG	0.458000													14	21					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358171	66358171	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:66358171G>A	ENST00000333861.3	-	1	2383	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	772										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTCCTGTGGAGATGGCTTC	0.507000													47	118					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520121	129520121	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:129520121C>T	ENST00000305031.4	+	3	1644	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	429						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGGGAAAGTGCCCTGATGAGC	0.493000													11	41					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691905	18691905	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:18691905G>A	ENST00000251296.1	+	6	1112	c.729G>A	c.(727-729)acG>acA	p.T243T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	243						extracellular region		p.T243T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GACCCTACACGGAGCGCCCCT	0.637000													25	81					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32760504	32760504	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:32760504C>T	ENST00000380250.3	+	27	3923	c.3427C>T	c.(3427-3429)Cgt>Tgt	p.R1143C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.R1143C(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCTGGATCGTTACAGTGA	0.438000													15	83					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44831599	44831599	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:44831599G>A	ENST00000354340.4	-	4	2762	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	ZNF112_ENST00000337401.4_Missense_Mutation_p.S910F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S927F	NM_013380.3	NP_037512.3			zinc finger protein 112																		AAACAAAACAGAATCTTCATT	0.323000													3	20					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46053572	46053572	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:46053572C>T	ENST00000295452.4	-	8	1167	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	334					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACAAAGAGATCCATCGCAGTC	0.388000													15	44					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378001	55378001	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:55378001G>A	ENST00000326321.3	+	9	1216	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E378K|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E395K	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	395					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGACCCTCAGGAGGTGACGTA	0.498000													51	192					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111752	186111752	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:186111752G>A	ENST00000458385.2	-	2	718	c.599C>T	c.(598-600)tCg>tTg	p.S200L	KIAA1430_ENST00000514798.1_Missense_Mutation_p.S200L|KIAA1430_ENST00000296775.6_Missense_Mutation_p.S200L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	200	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TGACGGAGACGAATCAGATAG	0.408000													6	11					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7942715	7942715	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7942715C>T	ENST00000380183.4	+	2	298	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ALOX15B_ENST00000572022.1_Silent_p.F53F|ALOX15B_ENST00000573359.1_Silent_p.F53F|ALOX15B_ENST00000380173.2_Silent_p.F53F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	53	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AGGAGGACTTCCAGGTGACGC	0.697000													5	16					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17861179	17861179	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:17861179G>A	ENST00000409389.1	-	18	2003	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.R600C			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	611	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CTATAACGACGATAGGTTTTC	0.388000													21	81					0	0	1	0	0
C9orf142	286257	broad.mit.edu	37	9	139887631	139887631	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139887631C>T	ENST00000371620.3	+	4	383	c.357C>T	c.(355-357)ccC>ccT	p.P119P	C9orf142_ENST00000493968.1_3'UTR	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	119												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGGCAGCCCCCAGGCTGCGGG	0.657000													8	53					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605070	48605070	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:48605070C>T	ENST00000328333.8	-	108	8091		c.e108-1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGCTCCCCCTGGAGAAAAA	0.637000													40	101					0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160589593	160589593	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:160589593C>T	ENST00000302035.6	-	5	1186	c.837G>A	c.(835-837)acG>acA	p.T279T	SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Silent_p.T249T|SLAMF1_ENST00000355199.3_Silent_p.T279T	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	279					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGCATAGATCGTAAGGCTTT	0.443000													26	126					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823931	146823931	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:146823931G>A	ENST00000508784.1	-	2	707	c.480C>T	c.(478-480)tcC>tcT	p.S160S	ZNF827_ENST00000379448.4_Silent_p.S160S|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGCGTGGTGGGAAGGCGGGG	0.547000													15	55					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15733939	15733939	+	RNA	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15733939G>A	ENST00000441682.2	+	0	733							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ATATTACTGCGATCATGGAGC	0.537000													6	27					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82921388	82921388	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:82921388G>T	ENST00000393389.3	+	4	1309	c.377G>T	c.(376-378)gGa>gTa	p.G126V	ANKRD42_ENST00000526731.1_Missense_Mutation_p.G126V|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G98V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G126V|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G13V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G126V|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G126V			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	98										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GATGACCGGGGATGCACTCCT	0.393000													17	74					0.00741294	0.00745878	1	1	0
PHC3	80012	broad.mit.edu	37	3	169840473	169840473	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:169840473G>A	ENST00000494943.1	-	9	1880	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V	PHC3_ENST00000495893.1_Silent_p.V616V|PHC3_ENST00000467570.1_Silent_p.V563V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	604	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TATCCATCCGGACACATTCAT	0.438000													15	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091108	9091108	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9091108G>A	ENST00000397910.4	-	1	910	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAAGGAAGGAAGAATAAAG	0.463000													18	43					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104121097	104121097	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:104121097C>T	ENST00000388887.2	+	47	5108	c.4904C>T	c.(4903-4905)cCt>cTt	p.P1635L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1635	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTTTTGCACCTTTATCTGCA	0.542000													25	164					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717732	137717732	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:137717732G>A	ENST00000343735.4	+	1	156	c.22G>A	c.(22-24)Ggc>Agc	p.G8S		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	8					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TGCCTGTCAGGGCTTGGGGTT	0.567000													18	66					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134960073	134960073	+	Silent	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:134960073T>C	ENST00000398015.3	+	13	2800	c.2430T>C	c.(2428-2430)taT>taC	p.Y810Y	EPHB1_ENST00000493838.1_Silent_p.Y371Y	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	810	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTGGAGCTATGGGATCGTCA	0.522000													7	258					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16326976	16326976	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:16326976G>A	ENST00000244769.4	-	8	2502	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	ATXN1_ENST00000436367.1_Silent_p.F522F	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	522	Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGTGGTGACGAACGTGTGAG	0.657000													41	159					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38166179	38166179	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:38166179C>A	ENST00000373055.1	+	5	682	c.409C>A	c.(409-411)Ctt>Att	p.L137I	CDCA8_ENST00000327331.2_Missense_Mutation_p.L137I	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	137	Required for interaction with SENP3.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGTAAGAATCTTCAAACTGC	0.403000													11	67					3.07112e-06	3.10382e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179605281	179605281	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179605281T>C	ENST00000589042.1	-	48	12903	c.12679A>G	c.(12679-12681)Acc>Gcc	p.T4227A	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T3910A|TTN_ENST00000460472.2_Missense_Mutation_p.T3864A|TTN_ENST00000342175.6_Missense_Mutation_p.T4056A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3989A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3910							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)			GCCACAGAGGTTAGATAAGAA	0.393000													13	56					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285022	28285022	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:28285022G>A	ENST00000373894.3	+	8	1232	c.1041G>A	c.(1039-1041)gcG>gcA	p.A347A	SMPDL3B_ENST00000549094.1_Silent_p.A299A|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	347					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGAGCCAGGCGAATGCTCAGG	0.622000													18	60					0	0	1	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845492	106845492	+	RNA	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:106845492C>T	ENST00000390617.2	-	0	196																											CAGCCCCTTTCCTGGAGCCTG	0.547000													54	111					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43674281	43674281	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:43674281C>T	ENST00000599812.1	-	6	1348	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	PSG5_ENST00000407568.1_Missense_Mutation_p.G147E|PSG5_ENST00000342951.6_Missense_Mutation_p.G325E|PSG5_ENST00000407356.1_Missense_Mutation_p.G325E|PSG5_ENST00000366175.3_Missense_Mutation_p.G325E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	325					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACGTCCTATTCCTGAAGGAGC	0.438000													27	78					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347219	31347219	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:31347219T>A	ENST00000336798.7	-	2	2405	c.913A>T	c.(913-915)Aat>Tat	p.N305Y	SDC3_ENST00000339394.6_Missense_Mutation_p.N363Y			O75056	SDC3_HUMAN	syndecan 3	363						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCGATGGCATTGTCCAGGAGG	0.652000													16	33					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749471	139749471	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139749471G>A	ENST00000445819.1	+	10	1156	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.R369Q			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	369	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ggcgccccccgggcccccgTC	0.677000													5	32					0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	123983175	123983175	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:123983175C>T	ENST00000376874.4	-	4	952	c.717G>A	c.(715-717)gaG>gaA	p.E239E	RILPL1_ENST00000340724.6_Silent_p.E87E	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	239					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGCTGCCCATCTCCTGCTCCT	0.642000													25	63					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310394	124310394	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:124310394C>G	ENST00000328064.2	-	1	660	c.588G>C	c.(586-588)gaG>gaC	p.E196D		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACACTACAAGCTCATTCACAT	0.458000													14	61					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091529	74091529	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:74091529G>A	ENST00000443185.2	-	4	2858	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGCCACTTTTGGACCCCGGCA	0.647000													26	105					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69970275	69970275	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:69970275G>A	ENST00000359154.2	+	19	2138	c.2037G>A	c.(2035-2037)ctG>ctA	p.L679L	WWP2_ENST00000542271.1_Silent_p.L563L|WWP2_ENST00000448661.1_Silent_p.L679L|WWP2_ENST00000356003.2_Silent_p.L679L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Silent_p.L240L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	679	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGAGATACTGGGCAAGGTGA	0.582000													21	34					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841815	70841815	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:70841815C>T	ENST00000393567.2	-	86	15184	c.15034G>A	c.(15034-15036)Gag>Aag	p.E5012K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5012										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGATATACTCTCCACCTGCG	0.562000													22	58					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123768288	123768288	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:123768288A>T	ENST00000223642.1	-	20	2500	c.2471T>A	c.(2470-2472)tTc>tAc	p.F824Y	C5_ENST00000466280.1_5'UTR	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	824					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CATTTCCAGGAAGACATCTTT	0.383000													11	38					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136595217	136595217	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:136595217G>A	ENST00000371872.4	-	5	1040	c.783C>T	c.(781-783)tcC>tcT	p.S261S	SARDH_ENST00000298628.5_Silent_p.S261S|SARDH_ENST00000439388.1_Silent_p.S261S|SARDH_ENST00000422262.2_Silent_p.S93S|SARDH_ENST00000371867.1_Silent_p.S172S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	261					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTGTCTGGATGGAACCATGCT	0.587000													6	52					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852465	215852465	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:215852465C>A	ENST00000272895.7	-	27	4101	c.3882G>T	c.(3880-3882)tgG>tgT	p.W1294C	ABCA12_ENST00000389661.4_Missense_Mutation_p.W976C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1294					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCGCTCCTTCCAATAGGAAG	0.438000													12	18					0.000151284	0.000152624	1	1	0
MAP2K5	5607	broad.mit.edu	37	15	67923225	67923225	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:67923225G>A	ENST00000178640.5	+	9	1172		c.e9-1		MAP2K5_ENST00000395476.2_Splice_Site|MAP2K5_ENST00000560591.1_Splice_Site|MAP2K5_ENST00000354498.5_Splice_Site	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5						nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCTTCCCATAGAGCATATCAT	0.348000													7	15					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73521427	73521427	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:73521427C>T	ENST00000418310.1	+	8	1161	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	LIMK1_ENST00000538333.3_Silent_p.S289S|LIMK1_ENST00000336180.2_Silent_p.S323S			P53667	LIMK1_HUMAN	LIM domain kinase 1	323	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GCTCTGAGTCCCTCCGCGTAG	0.692000													7	13					0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21996206	21996206	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:21996206G>A	ENST00000334530.5	-	6	888	c.518C>T	c.(517-519)cCc>cTc	p.P173L	REEP4_ENST00000523293.1_Intron|REEP4_ENST00000306306.3_Silent_p.P218P			Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	0						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGCGGATTAGGGGCTTCTCTC	0.687000													18	138					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701777	103701777	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:103701777C>T	ENST00000245312.3	-	5	1377	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	261					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATCCCCGTTTCAAAAGCAACC	0.423000													5	32					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096991	53096991	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:53096991C>T	ENST00000341809.3	-	1	256	c.228G>A	c.(226-228)ggG>ggA	p.G76G	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	76	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGGTGCTCCTCCCCATTAGAT	0.587000													7	27					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371263	84371263	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84371263G>A	ENST00000428679.2	-	5	1003	c.410C>T	c.(409-411)tCt>tTt	p.S137F	SNAP91_ENST00000439399.2_Missense_Mutation_p.S137F|SNAP91_ENST00000521743.1_Missense_Mutation_p.S137F|SNAP91_ENST00000437520.1_Missense_Mutation_p.S137F|SNAP91_ENST00000369694.2_Missense_Mutation_p.S137F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S137F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S137F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S137F|SNAP91_ENST00000520213.1_Missense_Mutation_p.S137F			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	137	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTGTCTGTAAGAAAAAGCCTT	0.333000													5	22					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101163	119101163	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:119101163C>T	ENST00000264245.4	+	5	988	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	152	Rho-GAP.				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						TGATTCGACACCTGGCCCATA	0.507000													32	96					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90591635	90591635	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:90591635G>A	ENST00000371930.4	-	2	380	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	57										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TAAAAGGAAGGAAACGATTCT	0.433000													41	88					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677766	37677766	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37677766A>G	ENST00000532828.2	-	5	924	c.673T>C	c.(673-675)Tat>Cat	p.Y225H	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y170H|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAGTTATAAGGGAAACCT	0.388000													17	50					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79933186	79933186	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:79933186A>G	ENST00000360280.3	+	41	5252	c.4992A>G	c.(4990-4992)atA>atG	p.I1664M	VPS13A_ENST00000357409.5_Missense_Mutation_p.I1664M|VPS13A_ENST00000376634.4_Missense_Mutation_p.I1664M|VPS13A_ENST00000376636.3_Missense_Mutation_p.I1625M|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1664					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGATTACCATAACTTCAGCAC	0.303000													14	31					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170734	113170734	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:113170734G>A	ENST00000401783.2	-	38	7482	c.7146C>T	c.(7144-7146)acC>acT	p.T2382T	SVEP1_ENST00000297826.5_Silent_p.T308T|SVEP1_ENST00000374469.1_Silent_p.T2359T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2382	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.T2385T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGGAGGTGGGGTACAAAGAA	0.458000													8	25					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555430	10555430	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:10555430C>A	ENST00000304519.5	+	3	592	c.563C>A	c.(562-564)gCg>gAg	p.A188E	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	188										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CTGAAAGAGGCGCTGCGCCTG	0.692000													3	19					1	1	1	1	0
KIAA1683	80726	broad.mit.edu	37	19	18377320	18377320	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:18377320G>A	ENST00000392413.3	-	3	1245	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	KIAA1683_ENST00000600328.2_Missense_Mutation_p.P344S|KIAA1683_ENST00000600359.2_Missense_Mutation_p.P298S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	344	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GAGACCACTGGATATGTCTGG	0.552000													14	53					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29933544	29933544	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:29933544G>A	ENST00000431530.3	+	6	3139	c.3081G>A	c.(3079-3081)ggG>ggA	p.G1027G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1017	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGCGCAAGGGGAGCTGAAGA	0.637000													4	18					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104149445	104149445	+	Silent	SNP	G	G	A	rs140590853		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:104149445G>A	ENST00000388887.2	+	63	7140	c.6936G>A	c.(6934-6936)ggG>ggA	p.G2312G	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2312	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G2312G(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CATGCAGTGGGAACCTGCTGC	0.577000													29	65					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093636	30093636	+	RNA	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:30093636T>G	ENST00000567636.1	+	0	2011					NR_003558.1																						CAGAGGATAATTCTGCTGTGC	0.458000													11	64					0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46198645	46198645	+	Silent	SNP	T	T	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:46198645T>G	ENST00000393405.2	+	8	942	c.588T>G	c.(586-588)ccT>ccG	p.P196P	SNX11_ENST00000580219.1_Silent_p.P188P|SNX11_ENST00000452859.2_Silent_p.P52P|SNX11_ENST00000439357.2_Silent_p.P135P|SNX11_ENST00000359238.2_Silent_p.P196P|SNX11_ENST00000582104.1_Silent_p.P188P	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	196					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CCTCACCGCCTCCCAGTGAAG	0.507000													24	94					0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139874416	139874416	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139874416C>T	ENST00000224167.2	+	4	527	c.452C>T	c.(451-453)tCc>tTc	p.S151F	PTGDS_ENST00000371625.3_Missense_Mutation_p.S117F			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	117					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCACCTACTCCGTGTCAGTG	0.637000													36	108					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136709570	136709570	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:136709570C>T	ENST00000354570.3	-	5	897	c.487G>A	c.(487-489)Gga>Aga	p.G163R	MAP7_ENST00000454590.1_Missense_Mutation_p.G185R|MAP7_ENST00000432797.2_Missense_Mutation_p.G17R|MAP7_ENST00000438100.2_Missense_Mutation_p.G185R|MAP7_ENST00000544465.1_Missense_Mutation_p.G148R	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	163					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGAGAGCCTCCCCACGACCAA	0.483000													49	116					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931684	115931684	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:115931684G>A	ENST00000238256.3	-	26	3422	c.3305C>T	c.(3304-3306)cCc>cTc	p.P1102L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1102					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCCTCCTCGGGGTCTGAAGT	0.582000													9	76					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139906029	139906029	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:139906029G>A	ENST00000297183.6	+	26	5064		c.e26+1		ANKHD1_ENST00000544120.1_Splice_Site|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site|ANKHD1_ENST00000360839.2_Splice_Site	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)			CTCAGACACGGTAAATTTTTC	0.363000													13	42					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19258860	19258860	+	Splice_Site	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:19258860C>T	ENST00000527884.1	-	4	684		c.e4+1		E2F8_ENST00000250024.4_Splice_Site|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8						cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCATACTTACTAAGTTCCTC	0.388000													10	31					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347743	38347743	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:38347743C>T	ENST00000273173.4	+	1	317	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.P76S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	76						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CACCTTTATCCCCAGCATCAT	0.562000													13	68					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103984697	103984697	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:103984697C>T	ENST00000388887.2	+	2	308	c.104C>T	c.(103-105)tCt>tTt	p.S35F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	35					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATAGGAAGTCTCTTCTTACA	0.433000													11	63					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531822	140531822	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140531822G>A	ENST00000231136.1	+	1	1984	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D526N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.D662Y(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGGTGGACGGCTTCTC	0.692000													18	64					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38874842	38874842	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:38874842C>T	ENST00000487273.2	+	6	593	c.515C>T	c.(514-516)cCt>cTt	p.P172L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	172					activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TACAAAGAGCCTCTGAAATGT	0.428000													22	42					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596793	136596793	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:136596793G>A	ENST00000531224.1	-	6	1981	c.1729C>T	c.(1729-1731)Cat>Tat	p.H577Y	BCLAF1_ENST00000353331.4_Missense_Mutation_p.H575Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H575Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H404Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H575Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H577Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	577					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGACAGAATGGACAAGTGTA	0.398000													12	115					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317372	203317372	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:203317372C>T	ENST00000354955.4	-	2	490	c.27G>A	c.(25-27)ctG>ctA	p.L9L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	9					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGAGCCCTGCCAGCAGCAGGA	0.572000													13	62					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4540018	4540018	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:4540018G>A	ENST00000306390.6	-	1	468	c.8C>T	c.(7-9)tCt>tTt	p.S3F	CTB-50L17.14_ENST00000586020.1_Missense_Mutation_p.S3F|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	3						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTCCAAGAGGACATGGT	0.577000													56	291					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690397	106690397	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:106690397C>T	ENST00000409944.1	+	4	306	c.75C>T	c.(73-75)ttC>ttT	p.F25F	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Silent_p.F61F			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	61						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CCAAAGAATTCCTTGGCAGCC	0.517000													41	121					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101164	119101164	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:119101164C>T	ENST00000264245.4	+	5	989	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	153	Rho-GAP.				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						GATTCGACACCTGGCCCATAT	0.512000													31	95					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640051	57640051	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:57640051C>T	ENST00000254181.4	+	4	462	c.8C>T	c.(7-9)tCt>tTt	p.S3F	USP29_ENST00000598197.1_Missense_Mutation_p.S3F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	3					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGATGATATCTCTAAAGGTA	0.333000													3	20					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488179	108488179	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:108488179C>T	ENST00000408999.3	+	20	3796	c.3719C>T	c.(3718-3720)cCt>cTt	p.P1240L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1240L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1240					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAACCCAATCCTGAAAACACT	0.423000													37	163					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31231755	31231755	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:31231755T>C	ENST00000255304.4	+	9	1883	c.1541T>C	c.(1540-1542)cTt>cCt	p.L514P		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	514					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TGCCTTCCACTTAAAAAGACT	0.408000													43	75					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7402801	7402801	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7402801C>T	ENST00000322644.6	+	10	2061	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	POLR2A_ENST00000572844.1_Silent_p.F554F	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	554					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGACGTCTTCCTGGAGCGGG	0.542000													11	31					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192799	179192799	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:179192799C>T	ENST00000292599.3	+	2	1051	c.788C>T	c.(787-789)cCc>cTc	p.P263L	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	263					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTCGGTGCCCGATGAAGAC	0.542000													26	57					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70178155	70178155	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:70178155G>A	ENST00000253925.7	+	9	1382	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	PPFIA1_ENST00000389547.3_Silent_p.P389P|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	389					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGACGCTCCCGGAGGTGGAGG	0.557000													34	120					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93834497	93834497	+	Silent	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:93834497A>G	ENST00000315765.9	+	14	2579	c.2571A>G	c.(2569-2571)aaA>aaG	p.K857K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	857	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCATGACAAAACCAGGTAAGT	0.453000													12	42					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44074226	44074226	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:44074226C>T	ENST00000378832.1	+	6	843	c.787C>T	c.(787-789)Cct>Tct	p.P263S		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	263							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTTCCTGGTCCCTGCTCCCTT	0.542000													68	274					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993600	144993600	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:144993600G>A	ENST00000322810.4	-	32	10969	c.10800C>T	c.(10798-10800)cgC>cgT	p.R3600R	PLEC_ENST00000354958.2_Silent_p.R3441R|PLEC_ENST00000527096.1_Silent_p.R3486R|PLEC_ENST00000357649.2_Silent_p.R3467R|PLEC_ENST00000354589.3_Silent_p.R3463R|PLEC_ENST00000436759.2_Silent_p.R3490R|PLEC_ENST00000398774.2_Silent_p.R3431R|PLEC_ENST00000345136.3_Silent_p.R3463R|PLEC_ENST00000356346.3_Silent_p.R3449R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3600	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCAGCAGGCGGATGCCGT	0.672000													34	61					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1686376	1686376	+	Silent	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:1686376A>G	ENST00000305513.7	-	10	2381	c.2214T>C	c.(2212-2214)gtT>gtC	p.V738V		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	738							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGCCCATTTCAACACTGGACG	0.512000													10	52					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48246517	48246517	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:48246517G>A	ENST00000262018.3	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	SGCA_ENST00000451235.2_Missense_Mutation_p.D115N|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	217					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GGCATCCCCCGATAGCCACGC	0.572000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	61					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7034542	7034542	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:7034542G>A	ENST00000389658.3	-	14	2080	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	663	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATTGGCAAGGACAGTCATC	0.408000													10	49					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80547042	80547042	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:80547042C>T	ENST00000424301.2	+	3	329	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000505704.1_3'UTR|CKMT2_ENST00000437669.1_Silent_p.L31L|CKMT2_ENST00000254035.4_Silent_p.L31L|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	31					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CACCGGGTACCTGCTGAACCG	0.537000													40	184					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85665947	85665947	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:85665947T>A	ENST00000341460.5	-	1	782	c.733A>T	c.(733-735)Att>Ttt	p.I245F		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	245					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GTCAGCGTAATTCTTTGGTCT	0.512000													15	59					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048330	90048330	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:90048330C>T	ENST00000330947.2	+	5	481	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	LRRC8B_ENST00000358200.4_Silent_p.L41L|LRRC8B_ENST00000439853.1_Silent_p.L41L	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	41						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GGTGGCCGTGCTGGCCGGAGC	0.507000													27	86					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040371	88040371	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:88040371C>T	ENST00000319595.4	+	1	526	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	158					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CTCTATGCCTCCTCTATTCTG	0.403000													8	18					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51207706	51207706	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:51207706C>T	ENST00000261842.5	+	3	390	c.284C>T	c.(283-285)tCc>tTc	p.S95F	AP4E1_ENST00000560508.1_Missense_Mutation_p.S20F	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	95					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TATGATGCTTCCTTTGGCTAT	0.333000													7	39					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201644	248201644	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:248201644C>T	ENST00000366479.2	+	1	171	c.75C>T	c.(73-75)ttC>ttT	p.F25F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTGGCCTTTTCGTATTCACCC	0.378000													24	110					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524457	112524457	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:112524457A>T	ENST00000369697.1	-	1	961	c.892T>A	c.(892-894)Ttc>Atc	p.F298I	KCND3_ENST00000302127.4_Missense_Mutation_p.F298I|KCND3_ENST00000315987.2_Missense_Mutation_p.F298I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	298						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GAAAACTTGAAGATCCTGAAG	0.597000													10	46					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700060	30700060	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:30700060G>A	ENST00000256246.2	-	1	6548	c.6474C>T	c.(6472-6474)ctC>ctT	p.L2158L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2158										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTCTCTTGAGAGCAAATGAA	0.328000													15	25					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594187	136594187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:136594187G>A	ENST00000264162.2	-	1	563	c.553C>T	c.(553-555)Cag>Tag	p.Q185*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	185	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTTGATTCCTGGTGGGGAAGC	0.512000													18	52					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844517	5844517	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:5844517C>T	ENST00000303225.6	-	3	968	c.334G>A	c.(334-336)Gat>Aat	p.D112N	FUT3_ENST00000589918.1_Missense_Mutation_p.D112N|FUT3_ENST00000589620.1_Missense_Mutation_p.D112N|FUT3_ENST00000458379.2_Missense_Mutation_p.D112N	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	112					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GACATGATATCCCAGTGGTGC	0.622000													32	84					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167643793	167643793	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:167643793G>A	ENST00000519204.1	+	21	3854	c.3736G>A	c.(3736-3738)Ggg>Agg	p.G1246R	TENM2_ENST00000520394.1_Missense_Mutation_p.G1128R|TENM2_ENST00000545108.1_Missense_Mutation_p.G1366R|TENM2_ENST00000518659.1_Missense_Mutation_p.G1367R|TENM2_ENST00000403607.2_Missense_Mutation_p.G1191R					teneurin transmembrane protein 2																		AGACAAGAATGGGCTCATGTA	0.532000													17	43					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016272	27016272	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:27016272G>A	ENST00000318627.2	+	1	645	c.199G>A	c.(199-201)Ggg>Agg	p.G67R		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	67						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTGCTCCCAGGGGGAGGGGAG	0.667000													7	18					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62986505	62986505	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:62986505C>T	ENST00000393630.3	+	36	5524	c.5133C>T	c.(5131-5133)tcC>tcT	p.S1711S	MON2_ENST00000552738.1_Silent_p.S1681S|MON2_ENST00000551397.1_Silent_p.S84S|MON2_ENST00000393629.2_Silent_p.S1704S|MON2_ENST00000393632.2_Silent_p.S1710S|MON2_ENST00000546600.1_3'UTR	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1711					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CACCAGCATCCAGAGTTCAAA	0.393000													10	70					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32218714	32218714	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:32218714C>T	ENST00000400246.1	+	24	2184	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	DEPDC5_ENST00000266091.3_Missense_Mutation_p.S681F|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S681F|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S681F|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S681F|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S681F			O75140	DEPD5_HUMAN	DEP domain containing 5	681					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACGGCATGTCCTTCTTGAAC	0.512000													19	21					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305455	204305455	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:204305455G>A	ENST00000319170.5	-	14	2757	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.P872S	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	820					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAAGAAGCAGGGAAAGCTGGC	0.577000													14	39					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18047225	18047225	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:18047225C>T	ENST00000250018.2	-	7	1389	c.827G>A	c.(826-828)gGt>gAt	p.G276D	TPH1_ENST00000341556.2_Missense_Mutation_p.G276D	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	276					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CGGGACATGACCTAAGAGTTC	0.438000													28	78					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926750	22926750	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:22926750G>A	ENST00000261374.3	+	2	1405	c.971G>A	c.(970-972)cGa>cAa	p.R324Q		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	324						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTCCTGCCTCGATGCTTGGGC	0.403000													41	137					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206243202	206243202	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:206243202G>A	ENST00000331555.5	-	3	698	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	20						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGCCTGCAGGAAGAGGGACA	0.532000													14	49					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364047	42364047	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:42364047C>T	ENST00000290472.3	-	15	1592	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	500	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGAAGAGCTCAGGAGGGACG	0.607000													8	49					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758091	5758091	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:5758091C>T	ENST00000317121.3	+	1	411	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CCATTCACTTCTTTGTGGGCA	0.458000													13	37					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682287	69682287	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:69682287G>A	ENST00000265403.7	+	1	577	c.550G>A	c.(550-552)Gga>Aga	p.G184R	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	184					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAGGCACAGTGGAGGATTTAT	0.413000													27	88					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27124540	27124540	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:27124540C>T	ENST00000354828.3	+	5	1075	c.548C>T	c.(547-549)cCc>cTc	p.P183L	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.P183L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	183	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTTGGGATACCCTATGGTAAT	0.363000													7	24					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910588	35910588	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:35910588C>T	ENST00000397367.2	-	3	321	c.195G>A	c.(193-195)atG>atA	p.M65I	CAPSL_ENST00000514524.1_Missense_Mutation_p.M65I|CAPSL_ENST00000397366.1_Missense_Mutation_p.M65I	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	65	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTAACCCTTTCATAAATTCTT	0.318000													13	56					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12128746	12128746	+	Nonsense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12128746T>A	ENST00000419886.2	-	4	331	c.40A>T	c.(40-42)Aaa>Taa	p.K14*	CTD-2006C1.10_ENST00000547473.1_3'UTR|ZNF433_ENST00000344980.6_Nonsense_Mutation_p.K49*|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGTTTCCATTTTTTCCCTACA	0.333000													8	24					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8122513	8122513	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:8122513G>A	ENST00000305253.4	+	12	1762	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	TUB_ENST00000299506.2_Silent_p.V452V|TUB_ENST00000534099.1_Silent_p.V458V	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	452					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGGCCTCCGTGAAGAACTTCC	0.517000													18	52					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97087561	97087561	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:97087561G>A	ENST00000524981.3	+	12	1679	c.1679G>A	c.(1678-1680)aGa>aAa	p.R560K				Q6ZTY8	CL063_HUMAN		534										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GACATAACAAGAAATCTAGAA	0.299000													9	43					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179587748	179587748	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:179587748C>T	ENST00000444136.1	+	5	1096	c.846C>T	c.(844-846)ttC>ttT	p.F282F	TDRD5_ENST00000294848.8_Silent_p.F282F|TDRD5_ENST00000367614.1_Silent_p.F282F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	282					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGAACACATTCAAATCAGTTA	0.333000													9	32					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243690	10243690	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:10243690C>T	ENST00000418404.3	-	16	2086	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G	MYH13_ENST00000252172.4_Silent_p.G641G|MYH13_ENST00000570743.1_Silent_p.G641G|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	641	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCTTCTTCCCGCCCTTCT	0.552000													9	41					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122677396	122677396	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:122677396C>T	ENST00000339777.4	+	7	1222	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	LRRC43_ENST00000425921.1_Silent_p.V213V	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	398	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTGAAGAGGTCGAAGGGTCTC	0.532000													14	29					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849942	35849942	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:35849942G>A	ENST00000327809.4	+	2	351	c.150G>A	c.(148-150)gtG>gtA	p.V50V	FFAR3_ENST00000594310.1_Silent_p.V50V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	50						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTGGCCGTGGACGTGCTCC	0.657000													23	125					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20101726	20101726	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:20101726G>A	ENST00000396085.1	+	25	5657	c.5296G>A	c.(5296-5298)Gac>Aac	p.D1766N	NAV2_ENST00000527559.2_Missense_Mutation_p.D1751N|NAV2_ENST00000540292.1_Missense_Mutation_p.D1753N|NAV2_ENST00000349880.4_Missense_Mutation_p.D1766N|NAV2_ENST00000360655.4_Missense_Mutation_p.D1702N|NAV2_ENST00000396087.3_Missense_Mutation_p.D1822N|NAV2_ENST00000311043.8_Missense_Mutation_p.D830N|NAV2_ENST00000533917.1_Missense_Mutation_p.D830N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1822						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATAGAGAGTGACTCAAAGAA	0.582000													8	28					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47774722	47774722	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:47774722C>T	ENST00000221922.6	+	12	1605	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	461										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCGGGATCCCCTGCAGTGAGC	0.662000													16	48					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23760146	23760146	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:23760146C>T	ENST00000336689.3	-	20	2036	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	ASAP3_ENST00000437606.2_Silent_p.K655K|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Silent_p.K168K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	664					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGTGGTGCTTCTTCCTGGCTA	0.547000													14	59					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932643	39932643	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:39932643G>A	ENST00000342274.4	-	4	2318	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	BCOR_ENST00000378444.4_Silent_p.P652P|BCOR_ENST00000378455.4_Silent_p.P652P|BCOR_ENST00000397354.3_Silent_p.P652P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	652	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTGGGGTAGGGAATTGGTG	0.527000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						9	11					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964692	94964692	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:94964692G>A	ENST00000341228.2	-	3	838	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L15F	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	15					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTCACCGTGAGGAGAACAGCC	0.468000													23	64					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832540	130832540	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:130832540G>A	ENST00000357462.5	-	15	2598	c.2505C>T	c.(2503-2505)gcC>gcT	p.A835A	POTEF_ENST00000409914.2_Silent_p.A835A			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	835	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGCCTGGATGGCCACGTACA	0.592000													60	66					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	46002387	46002387	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:46002387G>A	ENST00000376741.4	+	5	1612	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	492					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCCCTGGCCGGAGAGACCCAG	0.602000													17	54					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267052	124267052	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:124267052G>A	ENST00000354597.3	-	1	212	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGAAGGAGAGATTGAAGAGG	0.393000													10	60					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886060	29886060	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:29886060G>A	ENST00000310624.6	+	4	2464	c.2431G>A	c.(2431-2433)Gag>Aag	p.E811K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	817	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		E -> A (in dbSNP:rs165602).		cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAGGCCCCTGAGAAGGAGAT	0.542000													9	18					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796267	69796267	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:69796267G>A	ENST00000251566.4	-	5	1331	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.S145F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	434						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACTTACGAGGAATCGGTAAT	0.378000													21	88					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3623981	3623981	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:3623981G>A	ENST00000429344.2	-	2	399	c.347C>T	c.(346-348)tCc>tTc	p.S116F	CACTIN_ENST00000248420.5_Missense_Mutation_p.S116F|CACTIN_ENST00000221899.3_Missense_Mutation_p.S48F	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CGCGGAGCTGGATGCTGAGGA	0.726000													8	20					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714419	110714419	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:110714419C>T	ENST00000368924.3	-	5	684	c.669G>A	c.(667-669)aaG>aaA	p.K223K	DDO_ENST00000368925.1_Silent_p.K195K|DDO_ENST00000368923.3_Silent_p.K164K	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	195					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.K223K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAGGGAAAATCTTTGAGTCTC	0.502000													47	76					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245141	100245141	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:100245141C>T	ENST00000160382.5	-	8	791	c.685G>A	c.(685-687)Ggt>Agt	p.G229S		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	229					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGGGGCACCCTCCCGGACA	0.602000													15	67					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015497	93015497	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:93015497G>A	ENST00000333334.2	+	1	614	c.119G>A	c.(118-120)gGa>gAa	p.G40E	C15orf32_ENST00000556865.1_Missense_Mutation_p.G40E	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	40										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AGAGGAGAAGGAACGGCTCCC	0.547000													15	70					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959855	102959855	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:102959855G>A	ENST00000311734.2	+	8	1289	c.950G>A	c.(949-951)aGa>aAa	p.R317K	IL1RL1_ENST00000233954.1_Missense_Mutation_p.R317K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.R303K|IL1RL1_ENST00000404917.2_Missense_Mutation_p.R200K			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	317	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CACACCGTAAGACTAAGTAGG	0.433000													31	84					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42784515	42784515	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:42784515C>T	ENST00000310232.6	-	8	943	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	287										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGACTGGCTCCGGGCCTGGCC	0.547000													38	136					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563351	75563351	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:75563351G>A	ENST00000336257.3	-	3	2326	c.932C>T	c.(931-933)gCc>gTc	p.A311V	CHST5_ENST00000541075.1_Missense_Mutation_p.A317V|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	311			A -> T (in dbSNP:rs7206332).		N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCGGTGAAGGCGTAGAGTGC	0.677000													56	93					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040176	31040176	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:31040176C>T	ENST00000355537.3	+	4	3797	c.3650C>T	c.(3649-3651)cCc>cTc	p.P1217L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1217					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)					ACCTCCCAGCCCGTCCAGGGA	0.627000													14	47					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559458	20559458	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:20559458G>A	ENST00000329697.6	-	8	1192	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F	ACSM2B_ENST00000565232.1_Missense_Mutation_p.L342F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L263F|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L342F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	342					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTTCTGGAAGAAGGGACTCC	0.532000													61	145					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82455909	82455909	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:82455909C>T	ENST00000423517.2	-	18	14748	c.14411G>A	c.(14410-14412)gGg>gAg	p.G4804E	PCLO_ENST00000333891.8_Missense_Mutation_p.G4804E|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4666					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTACCTCCCCAAGGAAGTC	0.383000													15	59					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224001	43224001	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:43224001C>T	ENST00000255226.6	+	10	2043	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC14A2_ENST00000586448.1_Silent_p.F409F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	409						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCATCTTCCTGCTCCTGA	0.542000													30	160					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25193953	25193953	+	Missense_Mutation	SNP	G	G	A	rs143491411	by1000genomes	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:25193953G>A	ENST00000360031.2	+	5	687	c.505G>A	c.(505-507)Gac>Aac	p.D169N	ENTPD6_ENST00000433259.2_Missense_Mutation_p.D170N|ENTPD6_ENST00000376652.4_Missense_Mutation_p.D170N|ENTPD6_ENST00000354989.5_Missense_Mutation_p.D153N	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	170						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CATTCCGTTCGACTTCTGGAA	0.547000													12	65					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99440126	99440126	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:99440126G>A	ENST00000268035.6	+	4	1705	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.R365Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	365					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATTAACATCCGACGGGGGAGT	0.443000													15	38					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554131	28554131	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:28554131C>T	ENST00000452236.2	-	1	981	c.364G>A	c.(364-366)Gag>Aag	p.E122K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	122	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTCACCACCTCTTCTCCACTC	0.527000													40	177					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283370	5283370	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:5283370G>A	ENST00000546004.1	-	3	717	c.471C>T	c.(469-471)atC>atT	p.I157I	PROKR2_ENST00000217270.3_Silent_p.I157I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	157						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGGGGTGAACGATGGCGAGAT	0.478000										HNSCC(71;0.22)			24	70					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63850979	63850979	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:63850979C>T	ENST00000279873.7	+	10	2167	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P343L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	586					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.P586>?(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGAGAGCCCTGAAAGTGAA	0.557000													13	26					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140113	50140113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:50140113G>A	ENST00000371564.3	-	2	886	c.667C>T	c.(667-669)Cga>Tga	p.R223*	NFATC2_ENST00000396009.3_Nonsense_Mutation_p.R223*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R203*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	223	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGCTGGTTCGAGGTGACATT	0.647000													44	159					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021902	197021902	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:197021902C>T	ENST00000367412.1	-	9	1460	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	473	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACTTTCCCTTCATATTTCCAC	0.318000													8	22					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37697981	37697981	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37697981G>A	ENST00000532828.2	-	2	284	c.33C>T	c.(31-33)tcC>tcT	p.S11S	CTC-454I21.3_ENST00000585860.2_Silent_p.S11S|ZNF585B_ENST00000527838.1_Silent_p.S11S	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGGGCTGAGGATTTCTGGG	0.522000													16	64					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256815	89256815	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:89256815G>A	ENST00000289746.2	+	8	1208	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACCCACTTCGGACCAGCCTAG	0.682000													6	12					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	159					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453000													12	52					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284163	3284163	+	Silent	SNP	G	G	A	rs114978759	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:3284163G>A	ENST00000436008.2	-	10	2112	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	SLC22A23_ENST00000490273.1_Silent_p.I261I|SLC22A23_ENST00000406686.3_Silent_p.I542I|SLC22A23_ENST00000380302.4_Silent_p.I261I|PSMG4_ENST00000451246.2_Intron			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	542					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ACATGCCCACGATGGAAAACG	0.582000													8	28					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31811762	31811762	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:31811762G>A	ENST00000375454.3	+	2	483	c.273G>A	c.(271-273)gaG>gaA	p.E91E	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.E91E	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	91						extracellular region	lipid binding										AGCAGCAAGAGAGCAGGTGAG	0.577000													19	51					0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2082315	2082315	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:2082315C>T	ENST00000400921.2	+	6	908	c.225C>T	c.(223-225)atC>atT	p.I75I	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.I75I	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	258	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TCAGAGTCATCGGGCGCGGGA	0.512000													19	49					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862745	84862745	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84862745C>G	ENST00000403245.3	-	23	3262	c.3148G>C	c.(3148-3150)Gac>Cac	p.D1050H	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D974H	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1050					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAAGAACGTCTATTTCGGCT	0.393000													9	9					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47605499	47605499	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:47605499C>T	ENST00000273857.4	-	20	2726	c.2727G>A	c.(2725-2727)cgG>cgA	p.R909R	CORIN_ENST00000508498.1_Silent_p.R770R|CORIN_ENST00000502252.1_Silent_p.R842R|CORIN_ENST00000505909.1_Silent_p.R872R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	909	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCAGACAGGCCGGACGTAGC	0.542000													14	41					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5262892	5262892	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:5262892C>T	ENST00000274181.7	+	18	2923	c.2785C>T	c.(2785-2787)Ccc>Tcc	p.P929S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	929	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCCTGTCCTCCCAGGTAAGA	0.507000													19	44					0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11810169	11810169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:11810169C>T	ENST00000314340.5	+	5	454	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376629.4_Nonsense_Mutation_p.Q127*|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000510878.1_Silent_p.T98T|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000491346.1_3'UTR	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	134						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TAGTGCCTACCAGACGATTGA	0.582000													6	28					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924486	150924486	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:150924486G>A	ENST00000261800.5	-	9	6214	c.6202C>T	c.(6202-6204)Ccc>Tcc	p.P2068S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2068	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAATTTGGGGGGATTGTCA	0.512000													21	67					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428363	170428363	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:170428363G>C	ENST00000453153.2	-	2	523	c.177C>G	c.(175-177)aaC>aaG	p.N59K	FASTKD1_ENST00000453929.2_Missense_Mutation_p.N59K	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	59					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTATGGCTTTGTTTCTTTCAA	0.373000													13	28					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27124539	27124539	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:27124539C>T	ENST00000354828.3	+	5	1074	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.P183S	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	183	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCTTGGGATACCCTATGGTAA	0.358000													7	25					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124483383	124483383	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:124483383G>A	ENST00000296181.4	-	14	2455	c.2159C>T	c.(2158-2160)gCc>gTc	p.A720V		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	720					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATGGTCATGGCGTTGGGGGT	0.577000													9	17					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491985	30491985	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:30491985G>A	ENST00000222823.4	-	6	1573	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	350	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GAGAAGCCCCGGAGAAGCACC	0.677000													14	43					0	0	1	0	0
RBP7	116362	broad.mit.edu	37	1	10067711	10067711	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:10067711C>T	ENST00000294435.7	+	2	200	c.157C>T	c.(157-159)Cac>Tac	p.H53Y		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	53						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TTTTACCATCCACACGAACAG	0.373000													11	28					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72340914	72340914	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:72340914G>A	ENST00000389916.4	+	7	735	c.597G>A	c.(595-597)ctG>ctA	p.L199L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	199	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGCAGCTGCTGATGAAGGGGA	0.687000													29	58					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38972719	38972719	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:38972719C>T	ENST00000381938.3	-	6	969	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	288						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGAAGCACTTCCTGGACTTGA	0.418000													16	65					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34068090	34068090	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:34068090G>A	ENST00000373381.4	-	43	6765	c.6589C>T	c.(6589-6591)Cct>Tct	p.P2197S	CSMD2_ENST00000373380.1_Missense_Mutation_p.P1070S|CSMD2_ENST00000373377.1_Missense_Mutation_p.P296S|CSMD2_ENST00000373388.2_Missense_Mutation_p.P296S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2199	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACGGGCTAGGGAACCCCGGG	0.622000													13	31					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209103868	209103868	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:209103868C>T	ENST00000415913.1	-	9	1462	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	IDH1_ENST00000345146.2_Missense_Mutation_p.E361K|IDH1_ENST00000446179.1_Missense_Mutation_p.E361K			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	361					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			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)		ATAGAGACTTCTTCCAAAGCA	0.428000			Mis		gliobastoma								12	33					0	0	1	0	0
TSPY2	64591	broad.mit.edu	37	Y	6114317	6114317	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrY:6114317C>T	ENST00000320701.4	+	1	54	c.8C>T	c.(7-9)cCt>cTt	p.P3L	TSPY2_ENST00000383042.1_Missense_Mutation_p.P3L	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	3					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						CGCATGCGCCCTGAGGGCTCG	0.706000													12	12					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023615	18023615	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:18023615C>T	ENST00000205890.5	+	2	1839	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	501	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCACCCTCTCTGGACATTCC	0.637000													10	45					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218938609	218938609	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:218938609G>A	ENST00000374155.3	+	7	1011	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	RUFY4_ENST00000344321.7_Splice_Site|RUFY4_ENST00000441828.2_Splice_Site|RUFY4_ENST00000463872.1_Intron			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	200							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAAAGAAGGTGCCTCTGCC	0.552000											OREG0015195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	27					0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482296	69482296	+	Silent	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:69482296A>T	ENST00000279147.4	-	5	512	c.405T>A	c.(403-405)ctT>ctA	p.L135L	ORAOV1_ENST00000536870.1_Silent_p.L76L|ORAOV1_ENST00000535657.1_Silent_p.L135L|ORAOV1_ENST00000539414.1_3'UTR	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	135										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CTCAAAATGAAAGTCCGGAAC	0.428000													10	38					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113444369	113444369	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:113444369G>A	ENST00000392583.2	+	8	1827	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.K540K	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	540	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAAACTAAAGGATTTAATTC	0.453000													20	96					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11206986	11206986	+	Silent	SNP	A	A	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:11206986A>T	ENST00000337414.4	-	4	1811	c.939T>A	c.(937-939)gcT>gcA	p.A313A	ARHGAP6_ENST00000413512.3_Silent_p.A122A|ARHGAP6_ENST00000534860.1_Silent_p.A138A|ARHGAP6_ENST00000380736.1_Silent_p.A110A|ARHGAP6_ENST00000303025.6_Silent_p.A110A|ARHGAP6_ENST00000380718.1_Silent_p.A313A|ARHGAP6_ENST00000380732.3_Silent_p.A345A	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	313					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGAGGAGGGAAGCCACAAAGT	0.463000													19	24					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767499	12767499	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12767499G>A	ENST00000456935.2	-	13	1570	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.F509F	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	510					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGATGACCTGGAACTGGGGAG	0.587000													18	96					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:154858045G>A	ENST00000460393.1	+	10	1041	c.921G>A	c.(919-921)caG>caA	p.Q307Q	MME_ENST00000493237.1_Silent_p.Q307Q|MME_ENST00000360490.2_Silent_p.Q307Q|MME_ENST00000462745.1_Silent_p.Q307Q|MME_ENST00000492661.1_Silent_p.Q307Q	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	307					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q307H(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTGGCCCAGATCCAAAATA	0.323000													12	34					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32218715	32218715	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:32218715C>T	ENST00000400246.1	+	24	2185	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	DEPDC5_ENST00000266091.3_Silent_p.S681S|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400248.1_Silent_p.S681S|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Silent_p.S681S|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Silent_p.S681S|DEPDC5_ENST00000382112.3_Silent_p.S681S			O75140	DEPD5_HUMAN	DEP domain containing 5	681					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACGGCATGTCCTTCTTGAACT	0.512000													19	21					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154461772	154461772	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:154461772G>A	ENST00000304760.2	-	3	865	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	260										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTTCACAGGGACTGTCAAG	0.532000													16	66					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102667980	102667980	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:102667980G>A	ENST00000393772.2	-	5	669	c.243C>T	c.(241-243)atC>atT	p.I81I	FBXL13_ENST00000379305.3_Silent_p.I81I|FBXL13_ENST00000436908.1_Silent_p.I81I|FBXL13_ENST00000456695.1_Silent_p.I81I|FBXL13_ENST00000379306.3_Silent_p.I81I|FBXL13_ENST00000379308.3_Silent_p.I81I|FBXL13_ENST00000313221.4_Silent_p.I81I|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Silent_p.I81I			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	81										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GACAATAGATGATCTGTTGTA	0.299000													4	18					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207510105	207510105	+	Silent	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:207510105A>G	ENST00000367064.3	+	7	1179	c.921A>G	c.(919-921)acA>acG	p.T307T	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Silent_p.T307T|CD55_ENST00000391921.4_Silent_p.T243T|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Silent_p.T307T|CD55_ENST00000367063.2_Silent_p.T307T|CD55_ENST00000367062.4_Silent_p.T307T|CD55_ENST00000391920.4_Silent_p.T307T	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	307	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TTCCAACTACAGAAGTCTCAC	0.413000													15	46					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89848347	89848347	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89848347G>A	ENST00000310775.7	+	29	3146	c.3058_splice	c.e29-1	p.E1020_splice	FANCI_ENST00000300027.8_Splice_Site_p.E960_splice	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1020					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TATTCCTAGAGGATGCCTTGT	0.488000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				26	92					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722039	39722039	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:39722039C>T	ENST00000280082.3	+	5	1854	c.1655C>T	c.(1654-1656)tCg>tTg	p.S552L	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GATGAAAATTCGAAACCATCA	0.378000													10	35					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256013	134256013	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:134256013C>T	ENST00000337090.3	+	6	631	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CEP63_ENST00000332047.5_Missense_Mutation_p.S153L|CEP63_ENST00000513612.2_Missense_Mutation_p.S153L|CEP63_ENST00000354446.3_Missense_Mutation_p.S153L|CEP63_ENST00000606977.1_Missense_Mutation_p.S153L|CEP63_ENST00000383229.3_Missense_Mutation_p.S153L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	153					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S153L(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGTCAGAAATCGCTGGACTGG	0.438000													22	64					0	0	1	0	0
POLR3GL	84265	broad.mit.edu	37	1	145457937	145457937	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:145457937G>A	ENST00000369314.1	-	4	429	c.323C>T	c.(322-324)cCt>cTt	p.P108L	POLR3GL_ENST00000369313.3_Intron	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	108										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCACCTACCAGGGTTCCAATC	0.502000													12	45					0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209007439	209007439	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:209007439C>T	ENST00000260988.4	-	3	498	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	151	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CTCCTGTACTCCCCCGGCCTC	0.507000													42	89					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736629	141736629	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:141736629G>A	ENST00000475668.2	+	18	2137	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	MGAM_ENST00000549489.2_Missense_Mutation_p.D695N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	695	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGGACCAGGATCCTGCCTC	0.483000													62	175					0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99938561	99938561	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:99938561G>A	ENST00000264255.3	-	4	675	c.420C>T	c.(418-420)atC>atT	p.I140I	C2orf15_ENST00000465095.1_Intron|TXNDC9_ENST00000409434.1_Silent_p.I140I	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	140	Thioredoxin.				cell redox homeostasis		protein binding			lung(1)	1						GAATGACTTTGATATGCAGTC	0.398000													20	72					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979653	12979653	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12979653G>A	ENST00000251472.4	+	21	2802	c.2763G>A	c.(2761-2763)atG>atA	p.M921I		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	921					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TATCTGTCATGATTCCTGCAG	0.567000													9	48					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750362	172750362	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:172750362G>A	ENST00000265087.4	-	3	1675	c.366C>T	c.(364-366)agC>agT	p.S122S	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	122					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCACTTCCGGCTTATGCAGC	0.602000													5	31					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685258	54685258	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:54685258G>A	ENST00000545554.1	+	17	4726	c.4726G>A	c.(4726-4728)Gat>Aat	p.D1576N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D1576N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1574N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAGAAACAGGATATTCCTCG	0.378000													14	62					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145107471	145107471	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:145107471G>A	ENST00000426825.1	-	23	3265	c.3184C>T	c.(3184-3186)Ccc>Tcc	p.P1062S	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1062							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GAGCCTCGGGGAATGACCACG	0.726000													7	26					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868727	201868727	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:201868727C>T	ENST00000367288.4	-	2	1660	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	472					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCTGCTTGTCCATGTTGCGG	0.587000													8	12					0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196702	41196702	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:41196702G>A	ENST00000341495.2	+	2	418	c.314G>A	c.(313-315)gGa>gAa	p.G105E	TREML4_ENST00000448827.2_Missense_Mutation_p.G105E	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	105	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATGACTCGGGATTCTACTGG	0.468000													17	69					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84482159	84482159	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:84482159C>T	ENST00000416219.2	+	17	1613	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.F508F			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	508					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACATTTACTTCATGAAAGGGG	0.527000													27	41					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606115	84606115	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:84606115C>G	ENST00000344803.2	+	4	777	c.730C>G	c.(730-732)Ccc>Gcc	p.P244A		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCAACAGCTTCCCTTTCCCCT	0.527000													25	194					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156743169	156743169	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:156743169C>T	ENST00000275820.3	+	1	753	c.738C>T	c.(736-738)ctC>ctT	p.L246L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	246	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GACAGACACTCCCCGAAAGTG	0.547000													11	56					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141468629	141468629	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:141468629T>A	ENST00000389328.4	-	1	49	c.35A>T	c.(34-36)cAc>cTc	p.H12L		NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	0					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTCCCCCTGTGTGGCGCGCG	0.687000													5	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050129	9050129	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9050129G>A	ENST00000397910.4	-	5	31705	c.31502C>T	c.(31501-31503)cCc>cTc	p.P10501L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10503	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAAAGTGGGAGTATAGAC	0.498000													98	311					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138632579	138632579	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:138632579C>T	ENST00000251691.4	+	25	4298	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1378					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACTGTGCCCCAGCACCCGG	0.642000													5	10					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830500	38830500	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:38830500G>A	ENST00000436693.2	-	2	714	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	TLR6_ENST00000381950.1_Missense_Mutation_p.L199F	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	199					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAAGGTGAAGGGTTTTTGCA	0.303000													5	18					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857670	9857670	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:9857670T>C	ENST00000396573.2	-	14	4040	c.3731A>G	c.(3730-3732)aAc>aGc	p.N1244S	GRIN2A_ENST00000330684.3_Missense_Mutation_p.N1244S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N1244S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N1087S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N1244S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N1244S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1244					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATAGAGGTTCCCCATCCG	0.572000													18	70					0	0	1	0	0
PLSCR3	57048	broad.mit.edu	37	17	7296609	7296609	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7296609C>T	ENST00000535512.1	-	8	1378	c.361G>A	c.(361-363)Gag>Aag	p.E121K	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Missense_Mutation_p.E121K|PLSCR3_ENST00000324822.11_Missense_Mutation_p.E121K|PLSCR3_ENST00000576362.1_Missense_Mutation_p.E121K|PLSCR3_ENST00000576201.1_Missense_Mutation_p.E121K			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	121					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				TTGCTCTCCTCGGCCGCCTGA	0.711000													10	31					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941994	120941994	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:120941994C>T	ENST00000273666.6	+	11	1372	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	STXBP5L_ENST00000497029.1_Silent_p.P367P|STXBP5L_ENST00000472879.1_Silent_p.P367P|STXBP5L_ENST00000471454.1_Silent_p.P367P|STXBP5L_ENST00000492541.1_Silent_p.P367P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	367					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTGAAACGCCCTATCCAAATG	0.294000													5	25					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185694280	185694280	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:185694280G>A	ENST00000515030.1	-	10	1195	c.870C>T	c.(868-870)caC>caT	p.H290H	ACSL1_ENST00000507295.1_Silent_p.H256H|ACSL1_ENST00000504342.1_Silent_p.H290H|ACSL1_ENST00000454703.2_Silent_p.H119H|ACSL1_ENST00000437665.3_Silent_p.H119H|ACSL1_ENST00000281455.2_Silent_p.H290H|ACSL1_ENST00000513317.1_Silent_p.H290H|ACSL1_ENST00000504900.1_Silent_p.H290H			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	290					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTATGTTTCGGTGAGTGACCA	0.428000													10	31					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881868	92881868	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92881868G>A	ENST00000326402.4	-	11	1480	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	SLC36A4_ENST00000529184.1_Silent_p.V315V	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	450					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TATTTTTCAGGACCATCCATA	0.373000													13	55					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11850910	11850910	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:11850910C>T	ENST00000376592.1	-	11	1926	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	MTHFR_ENST00000376590.3_Missense_Mutation_p.E600K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E641K|MTHFR_ENST00000376585.1_Missense_Mutation_p.E641K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	600					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GACTCCTCCTCATACAGCTTT	0.567000													24	64					0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618588	89618588	+	Silent	SNP	T	T	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:89618588T>C	ENST00000323061.5	-	1	798	c.318A>G	c.(316-318)gaA>gaG	p.E106E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	106					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TATACTTTTTTTCCAGAGCCT	0.498000													17	47					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26694127	26694127	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:26694127C>T	ENST00000436292.1	-	3	396	c.276G>A	c.(274-276)ctG>ctA	p.L92L	ZNF683_ENST00000403843.1_Silent_p.L92L|ZNF683_ENST00000374204.1_Silent_p.L92L|ZNF683_ENST00000349618.3_Silent_p.L92L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGTCTGTGCCCAGGGGTGCCG	0.697000													10	22					0	0	1	0	0
FAM132A	388581	broad.mit.edu	37	1	1179872	1179872	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:1179872G>A	ENST00000330388.2	-	2	214	c.183C>T	c.(181-183)tcC>tcT	p.S61S		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	61						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGAGGCCTGGGATGGCTGAA	0.672000													14	49					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670097	7670097	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:7670097A>G	ENST00000299492.4	+	19	2252	c.1864A>G	c.(1864-1866)Aaa>Gaa	p.K622E	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.K479E|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.K510E|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.K464E	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	622	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CATCAACACCAAACAGGAGGA	0.413000													44	123					0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117477006	117477006	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:117477006C>T	ENST00000335209.7	-	8	763	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	TESC_ENST00000392545.4_Missense_Mutation_p.G246R|TESC_ENST00000541210.1_Missense_Mutation_p.G166R			Q96BS2	TESC_HUMAN	tescalcin	193					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		ATGTCGATCCCCTGCCAGATC	0.632000													4	15					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17429530	17429530	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:17429530C>T	ENST00000375486.4	-	3	364	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PADI2_ENST00000375481.1_Missense_Mutation_p.E101K|PADI2_ENST00000444885.2_Missense_Mutation_p.E101K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	101					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ATGCTCCCTTCCTCGTCATAG	0.557000													6	12					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337534	16337534	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:16337534A>C	ENST00000400202.1	-	3	3692	c.2980T>G	c.(2980-2982)Tgc>Ggc	p.C994G	NRIP1_ENST00000318948.4_Missense_Mutation_p.C994G|NRIP1_ENST00000400199.1_Missense_Mutation_p.C994G			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	994					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTATCCATGCAACTGCTGGGC	0.423000													6	29					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634223	70634223	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:70634223C>T	ENST00000381269.2	-	2	1670	c.917G>A	c.(916-918)gGg>gAg	p.G306E	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G306E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G306E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G306E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G306E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	306					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)		CACTTCCTTCCCTTCCAGGGG	0.493000													14	52					0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66055103	66055103	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:66055103C>T	ENST00000376901.4	-	4	577	c.393G>A	c.(391-393)cgG>cgA	p.R131R	YIF1A_ENST00000359461.6_Silent_p.R131R|YIF1A_ENST00000471387.2_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGAGGTCTTGCCGGGGGGGCA	0.627000													6	18					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096953	51096953	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:51096953C>T	ENST00000395542.2	-	12	2270	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T	COBL_ENST00000265136.7_Missense_Mutation_p.A614T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	614										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTAGATAAGGCCACACGGATT	0.507000													12	47					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138698539	138698539	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:138698539C>T	ENST00000520602.1	-	12	1558	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	MCF2_ENST00000536274.1_Missense_Mutation_p.D326N|MCF2_ENST00000370573.4_Missense_Mutation_p.D365N|MCF2_ENST00000519895.1_Missense_Mutation_p.D425N|MCF2_ENST00000370576.4_Missense_Mutation_p.D365N|MCF2_ENST00000370578.4_Missense_Mutation_p.D510N|MCF2_ENST00000414978.1_Missense_Mutation_p.D425N|MCF2_ENST00000338585.6_Missense_Mutation_p.D365N			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	365					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTTCAATGTCTTGGAGAGCT	0.363000													18	25					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	239273	239273	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:239273G>A	ENST00000293872.8	-	10	1150	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	LUC7L_ENST00000337351.4_3'UTR|LUC7L_ENST00000397783.1_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	347	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCCAGTCCGGGGGCCCTCG	0.632000													32	73					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808037	160808037	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:160808037G>A	ENST00000283243.7	-	24	3560	c.3354C>T	c.(3352-3354)acC>acT	p.T1118T	PLA2R1_ENST00000392771.1_Silent_p.T1118T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1118					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATTCTAAGGTATTGGGCA	0.373000													13	43					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78202095	78202095	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:78202095G>A	ENST00000535157.1	+	26	1686	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	SCEL_ENST00000377246.3_Missense_Mutation_p.E528K|SCEL_ENST00000349847.3_Missense_Mutation_p.E548K	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	548	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CCAGAACCTGGAAAATTTAAT	0.249000													10	23					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325545	150325545	+	Silent	SNP	C	C	T	rs138777121		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:150325545C>T	ENST00000328902.5	-	3	357	c.141G>A	c.(139-141)ggG>ggA	p.G47G	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	47							GTP binding	p.G47G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTGTTTTCCCCATGAGAA	0.527000													102	312					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051791	79051791	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:79051791C>T	ENST00000388820.4	-	24	5243	c.5033G>A	c.(5032-5034)cGa>cAa	p.R1678Q		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1678					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTGATGGCCTCGGGAGGGGGC	0.731000													11	15					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51535062	51535062	+	Silent	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:51535062G>A	ENST00000396402.1	-	2	201	c.48C>T	c.(46-48)atC>atT	p.I16I	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.I16I|CYP19A1_ENST00000557858.1_Silent_p.I16I|CYP19A1_ENST00000396404.4_Silent_p.I16I|CYP19A1_ENST00000559878.1_Silent_p.I16I|CYP19A1_ENST00000405913.3_Silent_p.I16I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	16					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTTCAGGCACGATGCTGGTGA	0.488000													20	119					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117840333	117840333	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:117840333C>T	ENST00000350763.4	-	7	2974	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	TNC_ENST00000537320.1_Missense_Mutation_p.E855K|TNC_ENST00000535648.1_Missense_Mutation_p.E855K|TNC_ENST00000345230.3_Missense_Mutation_p.E855K|TNC_ENST00000341037.4_Missense_Mutation_p.E855K|TNC_ENST00000542877.1_Missense_Mutation_p.E855K|TNC_ENST00000340094.3_Missense_Mutation_p.E855K|TNC_ENST00000423613.2_Missense_Mutation_p.E855K|TNC_ENST00000346706.3_Missense_Mutation_p.E855K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	855	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TACTGGTTCTCGTCCTCTGTG	0.562000													19	29					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634274	70634274	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:70634274C>T	ENST00000381269.2	-	2	1619	c.866G>A	c.(865-867)gGg>gAg	p.G289E	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G289E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G289E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G289E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G289E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	289					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)		CATCATTTTCCCATCCATCTC	0.473000													14	50					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864571	30864571	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:30864571G>A	ENST00000403066.1	-	6	453	c.170C>T	c.(169-171)aCc>aTc	p.T57I	SEC14L3_ENST00000402286.1_Missense_Mutation_p.T39I|SEC14L3_ENST00000539629.1_Missense_Mutation_p.T57I|SEC14L3_ENST00000540910.1_Missense_Mutation_p.T39I|SEC14L3_ENST00000215812.4_Missense_Mutation_p.T116I|SEC14L3_ENST00000401751.1_Missense_Mutation_p.T57I|SEC14L3_ENST00000415957.2_Missense_Mutation_p.T57I			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	116						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GTCCTGCTTGGTGACTGAGAA	0.587000													40	45					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711862	169711862	+	Splice_Site	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:169711862G>A	ENST00000444448.2	+	14	1503	c.1026_splice	c.e14-1	p.E343_splice	NOSTRIN_ENST00000317647.7_Splice_Site_p.E286_splice|NOSTRIN_ENST00000397206.2_Splice_Site_p.E208_splice|NOSTRIN_ENST00000421711.2_Splice_Site_p.E258_splice|NOSTRIN_ENST00000458381.2_Splice_Site_p.E343_splice|NOSTRIN_ENST00000397209.2_Splice_Site_p.E258_splice|NOSTRIN_ENST00000445023.2_Splice_Site_p.E208_splice			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	286					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTCCTAAAGGAAGAAGATCC	0.368000													8	30					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703584	55703584	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55703584C>T	ENST00000301532.3	-	1	292	c.293G>A	c.(292-294)gGg>gAg	p.G98E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G98V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGGGCACACCCATAATAGGA	0.423000													7	27					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886872	25886872	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:25886872G>A	ENST00000376351.3	+	11	2676	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	773						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTCTAAAGAGGACAAGGAGGG	0.572000													17	58					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060381	35060381	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:35060381C>T	ENST00000373913.3	+	3	741	c.261C>T	c.(259-261)ccC>ccT	p.P87P	DLGAP4_ENST00000339266.5_Silent_p.P87P|DLGAP4_ENST00000401952.2_Silent_p.P87P|DLGAP4_ENST00000373907.2_Silent_p.P87P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	87					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGAGAGCCCCTTCCCCAGCC	0.622000													21	66					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133036948	133036948	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:133036948G>A	ENST00000262283.5	-	18	1949	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	OC90_ENST00000603859.1_Missense_Mutation_p.S405F|OC90_ENST00000443356.2_Missense_Mutation_p.S421F|OC90_ENST00000254627.3_Missense_Mutation_p.S405F			Q02509	OC90_HUMAN	otoconin 90	421					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTGGTTAAAGGAGGCAGAGGT	0.602000													10	28					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718765	80718765	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:80718765G>A	ENST00000299564.8	-	2	441	c.286C>T	c.(286-288)Cct>Tct	p.P96S	CDYL2_ENST00000566173.1_Missense_Mutation_p.P96S|CDYL2_ENST00000562812.1_Missense_Mutation_p.P96S|CDYL2_ENST00000563890.1_Missense_Mutation_p.P96S|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	96						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTCTTTCCAGGATCTGAAGGT	0.547000													19	25					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343356	72343356	+	Silent	SNP	C	C	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:72343356C>T	ENST00000299687.5	+	1	381	c.381C>T	c.(379-381)ctC>ctT	p.L127L	ZNF407_ENST00000582337.1_Silent_p.L127L|ZNF407_ENST00000577538.1_Silent_p.L127L|ZNF407_ENST00000309902.6_Silent_p.L127L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCACATGTCTCCCAAATGCCC	0.443000													11	51					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175673651	175673655	+	Frame_Shift_Del	DEL	TAGGG	TAGGG	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:175673651_175673655delTAGGG	ENST00000409900.3	-	11	1393_1397	c.1080_1084delCCCTA	c.(1078-1086)taagfs	p.YPK360fs	CHN1_ENST00000409156.3_Frame_Shift_Del_p.YPK334fs|CHN1_ENST00000409597.1_Frame_Shift_Del_p.YPK176fs|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Frame_Shift_Del_p.YPK235fs	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	360	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTATAAACTTAGGGTAGGCATCAT	0.366			T	TAF15	extraskeletal myxoid chondrosarcoma								28	211	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71491413	71491415	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:71491413_71491415delCTC	ENST00000296755.7	+	5	2529_2531	c.2231_2233delCTC	c.(2230-2235)act>a	p.TP744del		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	744	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					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)		AAATCATCTACTCCTCTGTCTGA	0.394													29	117	---	---	---	---					
TMEM67	91147	broad.mit.edu	37	8	94811923	94811923	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:94811923delT	ENST00000453321.3	+	21	2236	c.2178delT	c.(2176-2178)ccfs	p.P726fs	TMEM67_ENST00000409623.3_Frame_Shift_Del_p.P645fs	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	726					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACATAGCTCCTTATAGCTGCA	0.378													17	51	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104175780	104175781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:104175780_104175781insG	ENST00000020673.5	-	3	1276_1277	c.750_751insC	c.(748-753)ccgctcfs	p.L251fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.L251fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	251					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTACCTGAGCTGGGGGGGTCCA	0.604													6	6	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116968980	116968980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:116968980delG	ENST00000375300.1	-	1	157	c.152delC	c.(151-153)cafs	p.P51fs	SIK3_ENST00000292055.4_5'UTR|SIK3_ENST00000542607.1_5'UTR|SIK3_ENST00000446921.2_Frame_Shift_Del_p.P51fs|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	0	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGCCGGGGCTGGGGGACGCGG	0.791													2	4	---	---	---	---					
TULP3	7289	broad.mit.edu	37	12	3040231	3040231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:3040231delC	ENST00000448120.2	+	6	572	c.521delC	c.(520-522)gcfs	p.A175fs	TULP3_ENST00000397132.2_Frame_Shift_Del_p.A175fs	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	175				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCTGCTACTGCCGCCCAACCA	0.488													19	123	---	---	---	---					
GOLGA6L7P	728310	broad.mit.edu	37	15	29091004	29091006	+	RNA	DEL	CTT	CTT	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:29091004_29091006delCTT	ENST00000569815.1	-	0	387					NR_047567.1																						GCAAAGAAACCTTCTCCAGAGGA	0.468													8	5	---	---	---	---					
XIST	7503	broad.mit.edu	37	X	73071650	73071657	+	RNA	DEL	TAAAATGG	TAAAATGG	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:73071650_73071657delTAAAATGG	ENST00000429829.1	-	0	931_938					NR_001564.2																						GCGGCAAGTCTAAAATGGCGGCCACTTT	0.490													19	38	---	---	---	---					
