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
ZNF642	339559	broad.mit.edu	37	1	40960711	40960711	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr1:40960711G>A	uc010ojk.2	+	5	858	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF642_uc001cfo.3_Silent_p.T187T|ZNF642_uc009vwb.3_Silent_p.T187T	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TTTATTCCACGTTGAGAAAAG	0.398												
PRKG1	5592	broad.mit.edu	37	10	54053584	54053584	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:54053584G>A	uc001jjm.3	+	17	2168	c.1940G>A	c.(1939-1941)aGt>aAt	p.S647N	PRKG1_uc001jjo.3_Missense_Mutation_p.S662N|PRKG1_uc009xow.2_Missense_Mutation_p.S365N|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	647	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.L647L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACAGACACAAGTAATTTTGAC	0.388												
RRP12	23223	broad.mit.edu	37	10	99130292	99130292	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:99130292G>A	uc001knf.3	-	22	2748	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L	RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.S588L|RRP12_uc010qou.2_Missense_Mutation_p.S809L|RRP12_uc009xvn.3_Missense_Mutation_p.S770L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	870						integral to membrane|nuclear membrane|nucleolus	protein binding	p.S870L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGCGCCCACCGACACCTCCTT	0.612												
RIC8A	60626	broad.mit.edu	37	11	209871	209871	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:209871G>A	uc001lof.3	+	2	922	c.597G>A	c.(595-597)acG>acA	p.T199T	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.T199T|RIC8A_uc001loh.3_Silent_p.T192T	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	199						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGCTGACGCTGGGGGTGA	0.602												
Unknown	390053	broad.mit.edu	37	11	5142008	5142008	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:5142008C>T								OR52E2 (61151 upstream) : DQ656008 (377 downstream)																							TCCAAATCTGCGAGTAAAAAA	0.368												
MMP3	4314	broad.mit.edu	37	11	102709358	102709358	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:102709358C>T	uc001phj.1	-	7	1218	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	385					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTTCCTCACGGTTGGAGGG	0.403												
SCN2B	6327	broad.mit.edu	37	11	118037799	118037799	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:118037799G>T	uc001psf.2	-	3	642	c.451C>A	c.(451-453)Ccc>Acc	p.P151T		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	151	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)		CGCTCAGGGGGCTCTGGAAAG	0.627												
PIWIL1	9271	broad.mit.edu	37	12	130833883	130833883	+	Silent	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr12:130833883T>A	uc001uik.3	+	7	1105	c.834T>A	c.(832-834)acT>acA	p.T278T	PIWIL1_uc001uij.2_Silent_p.T278T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	278	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGTGAGACTGTTTTGGATT	0.383												
IRS2	8660	broad.mit.edu	37	13	110436118	110436118	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr13:110436118C>T	uc001vqv.3	-	0	2797	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	761					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCCGTTGGGCAGCAGCTTGC	0.692												
NFATC4	4776	broad.mit.edu	37	14	24845826	24845826	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:24845826C>T	uc001wpc.3	+	8	2704	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.R858W|NFATC4_uc010tol.2_Missense_Mutation_p.R858W|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.R808W|NFATC4_uc010ton.2_Missense_Mutation_p.R808W|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.R827W|NFATC4_uc010top.2_Missense_Mutation_p.R827W|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.R725W|NFATC4_uc010tot.2_Missense_Mutation_p.R783W|NFATC4_uc010tou.2_Missense_Mutation_p.R725W|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.R783W|NFATC4_uc010tox.2_Missense_Mutation_p.R725W|NFATC4_uc001wpd.3_Missense_Mutation_p.R330W|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.R330W|NFATC4_uc010tpa.2_Missense_Mutation_p.R83W|NFATC4_uc010tpb.2_Missense_Mutation_p.R83W	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	795	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTATGGAGGGCGGGGCTCCTC	0.642												
C14orf105	55195	broad.mit.edu	37	14	57949812	57949812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:57949812G>A	uc010trl.1	-	2	507	c.364C>T	c.(364-366)Cga>Tga	p.R122*	C14orf105_uc001xcy.2_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Nonsense_Mutation_p.R44*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	122										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTGGCTTCTCGCTGGCTCAGG	0.522												
ATP10A	57194	broad.mit.edu	37	15	25924506	25924506	+	Silent	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr15:25924506A>T	uc010ayu.3	-	20	4588	c.4482T>A	c.(4480-4482)tcT>tcA	p.S1494S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1494					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCGCCTTGAAGATGCTCCTA	0.418												
CACNA1H	8912	broad.mit.edu	37	16	1259347	1259347	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:1259347G>A	uc002cks.3	+	16	3927	c.3679G>A	c.(3679-3681)Gac>Aac	p.D1227N	CACNA1H_uc002ckt.3_Missense_Mutation_p.D1227N|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1227					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTGCCCAGCGACTTCTTCCT	0.736												
CORO7-PAM16	79585	broad.mit.edu	37	16	4409376	4409376	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4409376C>T	uc002cwf.3	-	22	2704	c.2261G>A	c.(2260-2262)cGt>cAt	p.R754H	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R534H|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R754H|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R736H|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R669H|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R534H	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		CAGGAATACACGGGTGTCGCC	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MGRN1	23295	broad.mit.edu	37	16	4731589	4731589	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4731589G>A	uc002cxa.3	+	12	1307	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	MGRN1_uc002cwz.3_Silent_p.S390S|MGRN1_uc010uxo.2_Silent_p.S368S|MGRN1_uc010uxp.2_Silent_p.S368S|MGRN1_uc010btw.3_Silent_p.S369S|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	390					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCCCATCTCGCTGCTCGAGG	0.647												
NKD1	85407	broad.mit.edu	37	16	50664787	50664787	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:50664787C>T	uc002egg.2	+	7	885	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	221					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGACCTGCGGAGCTGGGA	0.612												
CNGB1	1258	broad.mit.edu	37	16	57949167	57949167	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:57949167G>A	uc002emt.2	-	22	2355	c.2290C>T	c.(2290-2292)Ccc>Tcc	p.P764S	CNGB1_uc010cdh.2_Missense_Mutation_p.P758S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	764					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAACAGCGGGGCAGGCGGAGG	0.602												
MYH4	4622	broad.mit.edu	37	17	10355578	10355578	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:10355578G>A	uc002gmn.3	-	26	3529	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1140					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582												
DNAH9	1770	broad.mit.edu	37	17	11572540	11572540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:11572540C>T	uc002gne.3	+	15	2959	c.2891C>T	c.(2890-2892)cCa>cTa	p.P964L	DNAH9_uc010coo.3_Missense_Mutation_p.P258L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	964	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCTGGTGCCACGGCTTTCC	0.527												
ERAL1	26284	broad.mit.edu	37	17	27182172	27182172	+	Silent	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:27182172A>G	uc002hcy.1	+	0	130	c.120A>G	c.(118-120)caA>caG	p.Q40Q	ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	40					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TAGGCTTCCAACGGAGGTGCG	0.627												
ICAM4	3386	broad.mit.edu	37	19	10398453	10398453	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:10398453G>A	uc002mnr.2	+	1	605	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	ICAM4_uc002mns.2_Silent_p.A212A|ICAM4_uc002mnt.2_Silent_p.A212A|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				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)			TCTGCCACGCGCGCCTCAATC	0.642												
OR10H1	26539	broad.mit.edu	37	19	15918076	15918076	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:15918076C>T	uc002nbq.2	-	0	861	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGTAAATGACGGAGGCAAAG	0.552												
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:16640581_16640583delTGC	uc002nei.1	-	7	1079_1081	c.1005_1007delGCA	c.(1003-1008)cagcaa>caa	p.335_336QQ>Q	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	335	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670												
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	G	A	rs150952802		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:43766196G>A	uc002owd.4	-	2	624	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_uc002owe.4_Silent_p.D175D|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.D175D	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532												
PLEKHA4	57664	broad.mit.edu	37	19	49360714	49360714	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:49360714G>A	uc002pkx.3	-	8	1563	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	PLEKHA4_uc010eml.3_Intron	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	338	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCAGGGGGCCGCGGGGGGAGC	0.542												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
LRPPRC	10128	broad.mit.edu	37	2	44152273	44152273	+	Silent	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:44152273C>A	uc002rtr.2	-	26	2887	c.2829G>T	c.(2827-2829)gtG>gtT	p.V943V	LRPPRC_uc010yob.1_Silent_p.V843V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	943					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGTCAGCTCCACTAATTTTT	0.323												
RAB11FIP5	26056	broad.mit.edu	37	2	73315641	73315641	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:73315641G>C	uc002siu.4	-	2	1346	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	RAB11FIP5_uc002sit.4_Missense_Mutation_p.Q291E	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	369					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAGACAGCTTGCAAGGAGCCA	0.617												
DNAH6	1768	broad.mit.edu	37	2	84777113	84777113	+	Nonsense_Mutation	SNP	C	C	T	rs143013494		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:84777113C>T	uc010fgb.3	+	8	1554	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	DNAH6_uc002soo.3_Nonsense_Mutation_p.R52*|DNAH6_uc002sop.3_Nonsense_Mutation_p.R52*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	473	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGCTAAAACGAACACCTTC	0.348												
YSK4	80122	broad.mit.edu	37	2	135738725	135738725	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:135738725G>A	uc002tue.1	-	8	3617	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc021vpz.1_Missense_Mutation_p.P57S|YSK4_uc002tuh.4_Missense_Mutation_p.P924S|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1196	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTCCAGTTGGCATGAGCATA	0.428												
TTN	7273	broad.mit.edu	37	2	179605482	179605482	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:179605482T>A	uc021vsy.1	-						TTN_uc021vsz.1_Missense_Mutation_p.T3989S|TTN_uc021vta.1_Missense_Mutation_p.T3922S|TTN_uc021vtb.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			TTGGAGAAGGTTTTCTGGGAC	0.453												
GFRA4	64096	broad.mit.edu	37	20	3640606	3640606	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr20:3640606G>A	uc002wio.3	-	4	850	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	GFRA4_uc002win.3_Missense_Mutation_p.R254C	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	284						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						AGCAGGGAGCGTCTCTCCAGG	0.642												
MX2	4600	broad.mit.edu	37	21	42770891	42770891	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr21:42770891G>A	uc002yzf.1	+	8	1321	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	406					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAGCTGCGGCGTTGCGGGGCT	0.527												
CACNA1D	776	broad.mit.edu	37	3	53757913	53757913	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr3:53757913A>G	uc003dgv.4	+	13	2150	c.1987A>G	c.(1987-1989)Atc>Gtc	p.I663V	CACNA1D_uc003dgu.4_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.4_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.4_Missense_Mutation_p.I330V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	663					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCATTATCATCTTTTCCTT	0.438												
CNOT6L	246175	broad.mit.edu	37	4	78650009	78650009	+	Silent	SNP	T	T	C			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:78650009T>C	uc011ccd.2	-	10	1383	c.1252_splice	c.e10+1	p.G418_splice	CNOT6L_uc003hks.3_Splice_Site_p.G418_splice|CNOT6L_uc003hkt.1_Splice_Site_p.G261_splice	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	418					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TATAAATACCTGAATCTGGCA	0.403												
FRAS1	80144	broad.mit.edu	37	4	79236756	79236756	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:79236756C>A	uc003hlb.2	+	15	2127	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	FRAS1_uc003hkw.3_Missense_Mutation_p.Q563K|FRAS1_uc003hky.1_Missense_Mutation_p.Q267K|FRAS1_uc003hkz.3_Missense_Mutation_p.Q267K|FRAS1_uc003hla.1_Missense_Mutation_p.Q74K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	563					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTTGTGACCAATCCTGTGA	0.478												
HCN1	348980	broad.mit.edu	37	5	45303842	45303842	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:45303842A>T	uc003jok.3	-	5	1502	c.1477T>A	c.(1477-1479)Ttt>Att	p.F493I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	493						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R492K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AACACCTCAAATCTCAACTTG	0.413												
PLK2	10769	broad.mit.edu	37	5	57754862	57754862	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:57754862C>T	uc003jrn.3	-	1	508	c.328G>A	c.(328-330)Gca>Aca	p.A110T	PLK2_uc021xyx.1_Missense_Mutation_p.A96T|PLK2_uc011cql.1_Missense_Mutation_p.A12T	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	110	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	p.A110T(2)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATAATTTTTGCGGCGTAGACT	0.423												
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:67589149A>T	uc003jva.3	+	9	1717	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
TGFBI	7045	broad.mit.edu	37	5	135385160	135385160	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:135385160G>T	uc003lbf.4	+	6	965	c.804G>T	c.(802-804)atG>atT	p.M268I	TGFBI_uc003lbg.4_Missense_Mutation_p.M1I|TGFBI_uc003lbh.4_Missense_Mutation_p.M94I|TGFBI_uc011cyb.2_Missense_Mutation_p.M94I	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	268	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAACACGATGCTTGAAGGTA	0.567												
PCDHB8	56128	broad.mit.edu	37	5	140559327	140559327	+	Missense_Mutation	SNP	C	C	T	rs141057693		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:140559327C>T	uc011dai.2	+	0	1957	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	571	Cadherin 6.				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)			AATGGCTCCGCGCCCTGCACC	0.716												
NDST1	3340	broad.mit.edu	37	5	149925000	149925000	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:149925000C>T	uc003lsk.4	+	10	2599	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	NDST1_uc011dcj.2_Silent_p.V699V	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	699	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGGTCCTGACCATCC	0.612												
ANXA6	309	broad.mit.edu	37	5	150512089	150512089	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:150512089G>A	uc003ltl.2	-	9	912	c.684C>T	c.(682-684)gcC>gcT	p.A228A	ANXA6_uc011dcp.2_Silent_p.A196A|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	228						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGATGCTGGCTTCAATCG	0.542												
DOCK2	1794	broad.mit.edu	37	5	169098173	169098174	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:169098173_169098174delTA	uc003maf.3	+	4	396_397	c.316_317delTA	c.(316-318)tatfs	p.Y106fs	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	106					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAACAACTCTATGTGGTGAGA	0.441												
PRSS16	10279	broad.mit.edu	37	6	27222902	27222902	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:27222902G>T	uc003nja.3	+	10	1483	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.G233W|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	490					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCGCCTAGGGCGCCAGGT	0.507												
MSH5	4439	broad.mit.edu	37	6	31721395	31721395	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:31721395G>T	uc003nwu.2	+	11	1131	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F	MSH5_uc003nwx.2_Missense_Mutation_p.V352F|MSH5_uc003nwv.2_Missense_Mutation_p.V335F|MSH5_uc003nww.2_Missense_Mutation_p.V335F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	335					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CGACTGGCAGGTTCTCTACAA	0.493								Direct reversal of damage;Mismatch excision repair (MMR)				
ANKRD6	22881	broad.mit.edu	37	6	90333750	90333750	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:90333750C>T	uc003pni.4	+	11	1533	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	ANKRD6_uc003pne.4_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.4_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.2_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.3_Missense_Mutation_p.R339W|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_5'UTR	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	398							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CACATTGTACCGGGGCAAGGA	0.522												
SLC22A3	6581	broad.mit.edu	37	6	160819102	160819102	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:160819102A>G	uc003qti.3	+	1	548	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	174						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ACCTTAGGCTATGCAGCAGAC	0.433												
ABCB1	5243	broad.mit.edu	37	7	87135283	87135283	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:87135283G>A	uc003uiz.2	-	27	4059	c.3566C>T	c.(3565-3567)gCc>gTc	p.A1189V	ABCB1_uc011khc.2_Missense_Mutation_p.A1125V	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1189	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCTAACAAGGGCACGAGCTAT	0.403												
MLL3	58508	broad.mit.edu	37	7	151970848	151970848	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:151970848C>A	uc003wla.3	-	6	1173	c.954G>T	c.(952-954)caG>caT	p.Q318H		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	318					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GACTGAAATCCTGAAAGGTGC	0.423			N		medulloblastoma							
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr8:65493617_65493618insGGC	uc003xvi.3	+	0	823_824	c.270_271insGGC	c.(268-273)insGGC	p.97_98insG	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	97	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782												
SAMD12	401474	broad.mit.edu	37	8	119593041	119593041	+	Silent	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr8:119593041A>T	uc003yom.2	-	1	234	c.105T>A	c.(103-105)tcT>tcA	p.S35S	SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	35										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAATGGATTGAGATTCCACAC	0.453												
TBC1D2	55357	broad.mit.edu	37	9	100971301	100971301	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr9:100971301C>T	uc011lvb.2	-	8	1979	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	TBC1D2_uc004ayp.3_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.3_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.3_Missense_Mutation_p.R382Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	600						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCAGCGGCCGATCCACAGC	0.652												
ITIH6	347365	broad.mit.edu	37	X	54785074	54785074	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:54785074C>T	uc004dtj.2	-	7	1463	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	478					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GTAGTTCAGACGCACATCTGC	0.597												
TBC1D8B	54885	broad.mit.edu	37	X	106109162	106109162	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:106109162C>T	uc004emo.3	+	15	2726	c.2561C>T	c.(2560-2562)gCt>gTt	p.A854V	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	854						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTCCCTGGGCTCATTCTGCA	0.408												
WASH6P	653440	broad.mit.edu	37	X	155252811	155252811	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:155252811C>T	uc004fnw.1	+	5	1514	c.855C>T	c.(853-855)ccC>ccT	p.P285P	WASH6P_uc022cip.1_Silent_p.P71P	NM_182905	NP_878908			Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.																		GCATTGCCCCCTCTGCCCCTG	0.637												
PCDH11Y	83259	broad.mit.edu	37	Y	4925190	4925190	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrY:4925190T>A	uc004fqo.3	+	0	1060	c.326T>A	c.(325-327)aTt>aAt	p.I109N	PCDH11Y_uc010nwg.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fql.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.I109N	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCGAATTGAAGAGGAT	0.443												
