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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
CCDC27	148870	broad.mit.edu	37	1	3672130	3672130	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:3672130C>T	uc001akv.2	+	3	633	c.552C>T	c.(550-552)GAC>GAT	p.D184D		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	184										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGAACGTGGACGGTGAGGGAG	0.647		NaN											0	0	0	0.012319	0	21	228				
CAMTA1	23261	broad.mit.edu	37	1	7798119	7798119	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:7798119C>G	uc001aoi.2	+	16	3966	c.3759C>G	c.(3757-3759)TTC>TTG	p.F1253L	CAMTA1_uc010nzv.1_Missense_Mutation_p.F340L|CAMTA1_uc001aok.3_Missense_Mutation_p.F296L|CAMTA1_uc001aoj.2_Missense_Mutation_p.F209L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGTACTTCCAGACAAGGC	0.488		NaN											0	0	0	0.027356	0	26	103				
PTCHD2	57540	broad.mit.edu	37	1	11596720	11596720	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:11596720C>T	uc001ash.3	+	21	4294	c.4156C>T	c.(4156-4158)CTG>TTG	p.L1386L		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1386	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TAAGATTCCCCTGCCCGCAGG	0.672		NaN											0	0	0	0.004672	0	3	10				
PADI4	23569	broad.mit.edu	37	1	17690129	17690129	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:17690129G>A	uc001baj.2	+	16	1899	c.1871G>A	c.(1870-1872)GGC>GAC	p.G624D		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	624					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGCCACTGGGCCTCCAGTGC	0.617		NaN											0	0	0	0.00308	0	7	47				
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993374C>A	uc001bjm.2	+	13	1921	c.1697C>A	c.(1696-1698)CCT>CAT	p.P566H	SRRM1_uc010oel.1_Missense_Mutation_p.P578H|SRRM1_uc009vrh.1_Missense_Mutation_p.P539H|SRRM1_uc009vri.1_Missense_Mutation_p.P495H|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.537		NaN											1	0	1.76689e-08	0.006214	1.93927e-08	5	75				
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993386G>T	uc001bjm.2	+	13	1933	c.1709G>T	c.(1708-1710)CGC>CTC	p.R570L	SRRM1_uc010oel.1_Missense_Mutation_p.R582L|SRRM1_uc009vrh.1_Missense_Mutation_p.R543L|SRRM1_uc009vri.1_Missense_Mutation_p.R499L|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.532		NaN											1	0	0.000673444	0.008291	0.000715866	5	77				
LSM10	84967	broad.mit.edu	37	1	36859515	36859515	+	Silent	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:36859515G>C	uc001cao.1	-	2	366	c.216C>G	c.(214-216)CTC>CTG	p.L72L		NM_032881	NP_116270	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	72					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding				0		Myeloproliferative disorder(586;0.0393)				CTGTCACAAAGAGGTCATCCA	0.552		NaN											0	0	0	0.010504	0	21	83				
TTLL7	79739	broad.mit.edu	37	1	84373315	84373315	+	Missense_Mutation	SNP	G	G	A	rs143330409		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:84373315G>A	uc001djc.2	-	16	2212	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	606					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GAGATGGACCGAGGGCAGCTG	0.468		NaN											0	0	0	0.021553	0	5	34				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:145367767G>A	uc001end.3	+	85	10623	c.10588G>A	c.(10588-10590)GAA>AAA	p.E3530K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3455											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.254		NaN											0	0	0	0.021553	0	5	82				
FMO3	2328	broad.mit.edu	37	1	171086316	171086316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:171086316C>T	uc001ghi.2	+	9	1444	c.1333C>T	c.(1333-1335)CCC>TCC	p.P445S	FMO3_uc001ghh.2_Missense_Mutation_p.P445S|FMO3_uc010pmb.1_Missense_Mutation_p.P425S|FMO3_uc010pmc.1_Missense_Mutation_p.P382S	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	445				KP -> T (in Ref. 1; AAA86284).	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGGCAAAGCCCAACATCCC	0.483		NaN											0	0	0	0.025465	0	39	51				
TNN	63923	broad.mit.edu	37	1	175067712	175067712	+	Silent	SNP	C	C	T	rs150075962	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:175067712C>T	uc001gkl.1	+	9	2213	c.2100C>T	c.(2098-2100)GCC>GCT	p.A700A	TNN_uc010pmx.1_Silent_p.A611A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	700	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572		NaN											0	0	0	0.015359	0	33	91				
KDM5B	10765	broad.mit.edu	37	1	202710600	202710600	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:202710600C>T	uc001gyf.2	-	19	2956	c.2840G>A	c.(2839-2841)GGG>GAG	p.G947E	KDM5B_uc009xag.2_Missense_Mutation_p.G983E|KDM5B_uc001gyg.1_Missense_Mutation_p.G789E	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	947					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						CGGGGCCAGCCCTACCCCTAG	0.547		NaN											0	0	0	0.015359	0	35	61				
OR2T1	26696	broad.mit.edu	37	1	248570286	248570286	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:248570286C>T	uc010pzm.1	+	1	991	c.991C>T	c.(991-993)CTC>TTC	p.L331F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	331	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	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)			TTACACCATTCTCACACCCAT	0.527		NaN											0	0	0	0.01441	0	60	210				
INPP5F	22876	broad.mit.edu	37	10	121557048	121557048	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:121557048A>G	uc001leo.2	+	8	1110	c.944A>G	c.(943-945)CAT>CGT	p.H315R		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	315	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGTTGATTCATGTTCATAAT	0.423		NaN											0	0	0	0.020292	0	12	16				
OR2AG2	338755	broad.mit.edu	37	11	6789447	6789447	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:6789447C>T	uc001meq.1	-	1	742	c.742G>A	c.(742-744)GTC>ATC	p.V248I		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACATCCCGACCACAATCAGG	0.483		NaN											0	0	0	0.012319	0	23	17				
OR5D18	219438	broad.mit.edu	37	11	55587220	55587220	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:55587220A>T	uc010rin.1	+	1	115	c.115A>T	c.(115-117)ACT>TCT	p.T39S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				CTACAATGTCACTGTGCTAGG	0.453		NaN											0	0	0	0.01441	0	102	101				
TMEM123	114908	broad.mit.edu	37	11	102272686	102272686	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102272686G>A	uc001pha.2	-	3	830	c.409C>T	c.(409-411)CAC>TAC	p.H137Y	TMEM123_uc009yxc.2_Missense_Mutation_p.H118Y	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	137	Thr-rich.|Extracellular (Potential).				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GAACTATTGTGGGTTACGGTC	0.373		NaN											0	0	0	0.01441	0	939	45				
CD163	9332	broad.mit.edu	37	12	7656275	7656275	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:7656275G>A	uc001qsz.3	-	1	140	c.12C>T	c.(10-12)CTC>CTT	p.L4L	CD163_uc001qta.3_Silent_p.L4L|CD163_uc009zfw.2_Silent_p.L4L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	4					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GCACCATTCTGAGTTTGCTCA	0.318		NaN											0	0	0	0.013537	0	10	68				
ABCC9	10060	broad.mit.edu	37	12	21997778	21997778	+	Silent	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:21997778A>G	uc001rfi.1	-	25	3188	c.3168T>C	c.(3166-3168)ACT>ACC	p.T1056T	ABCC9_uc001rfh.2_Silent_p.T1056T|ABCC9_uc001rfj.1_Silent_p.T1020T	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1056	ABC transmembrane type-1 2.|Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCATTCTACAGTGAGGGATG	0.418		NaN											0	0	0	0.01441	0	53	69				
CAPRIN2	65981	broad.mit.edu	37	12	30873763	30873763	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:30873763C>A	uc001rji.1	-	12	2881	c.2130G>T	c.(2128-2130)ATG>ATT	p.M710I	CAPRIN2_uc001rjf.1_Missense_Mutation_p.M507I|CAPRIN2_uc001rjg.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjh.1_Missense_Mutation_p.M710I|CAPRIN2_uc001rjj.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjk.3_Missense_Mutation_p.M710I|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	710					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			ovary(1)|central_nervous_system(1)	2	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)					TCTCTGAGGTCATAAACTCTG	0.378		NaN											1	0	6.97489e-18	0.021022	8.04795e-18	36	118				
SLC2A13	114134	broad.mit.edu	37	12	40499322	40499322	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:40499322A>C	uc010skm.1	-	1	340	c.289T>G	c.(289-291)TAT>GAT	p.Y97D	SLC2A13_uc001rmf.2_Missense_Mutation_p.Y97D	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	97	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				CCGGTGTCATAGCCAAACAGG	0.592		NaN								HNSCC(50;0.14)			0	0	0	0.004482	0	6	3				
CNTN1	1272	broad.mit.edu	37	12	41421677	41421677	+	Missense_Mutation	SNP	G	G	A	rs143121881		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:41421677G>A	uc001rmm.1	+	22	2842	c.2729G>A	c.(2728-2730)AGG>AAG	p.R910K	CNTN1_uc001rmn.1_Missense_Mutation_p.R899K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	910	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGCCTCCAAGGATCATCAGT	0.393		NaN											0	0	0	0.01441	0	49	26				
ACVRL1	94	broad.mit.edu	37	12	52307405	52307405	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:52307405G>A	uc001rzj.2	+	4	659	c.376G>A	c.(376-378)GTG>ATG	p.V126M	ACVRL1_uc001rzk.2_Missense_Mutation_p.V126M|ACVRL1_uc010snm.1_Intron	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	126	Helical; (Potential).				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTGGGCCCCGTGCTGGCCTT	0.682		NaN							Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.027356	0	24	10				
ATP5B	506	broad.mit.edu	37	12	57039660	57039660	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:57039660G>C	uc001slr.2	-	1	193	c.88C>G	c.(88-90)CAG>GAG	p.Q30E	SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	30					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						AGTAAGAGCTGAGCTGGGGGC	0.657		NaN											0	0	0	0.004672	0	3	13				
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:48947629G>T	uc001vcb.2	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(14)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.264		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			1	0	1.17004e-41	0.01441	1.41032e-41	66	54		Valid		
LMO7	4008	broad.mit.edu	37	13	76427232	76427232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:76427232G>T	uc001vjv.2	+	25	4430	c.3670G>T	c.(3670-3672)GAA>TAA	p.E1224*	LMO7_uc010thv.1_Nonsense_Mutation_p.E1175*|LMO7_uc010thw.1_Nonsense_Mutation_p.E1101*	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1509						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTCAGAGGCGAATCTTTAGA	0.378		NaN											1	0	1.55811e-20	0.008361	1.82909e-20	27	81				
BMP4	652	broad.mit.edu	37	14	54418914	54418914	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:54418914C>A	uc001xal.3	-	2	214	c.27G>T	c.(25-27)ATG>ATT	p.M9I	BMP4_uc010aoh.2_Missense_Mutation_p.M9I|BMP4_uc001xao.3_Missense_Mutation_p.M9I|BMP4_uc001xan.3_Missense_Mutation_p.M9I	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	9					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						ATAAAACGACCATCAGCATTC	0.493		NaN											1	0	2.45108e-15	0.00874	2.75746e-15	42	65				
ANGEL1	23357	broad.mit.edu	37	14	77275517	77275517	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:77275517T>C	uc001xsv.2	-	2	647	c.534A>G	c.(532-534)CCA>CCG	p.P178P	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	178										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCAACACCGCTGGGTCCTCTT	0.652		NaN											0	0	0	0.00499	0	15	37				
ATP10A	57194	broad.mit.edu	37	15	25925012	25925012	+	Missense_Mutation	SNP	C	C	A	rs141308074		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:25925012C>A	uc010ayu.2	-	21	4082	c.3976G>T	c.(3976-3978)GCT>TCT	p.A1326S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1326	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CGTCCCTGAGCAAAGGTCTCT	0.597		NaN											1	0	1.02067e-35	0.01441	1.21938e-35	50	50				
MAP2K1	5604	broad.mit.edu	37	15	66777338	66777338	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:66777338T>A	uc010bhq.2	+	7	1179	c.704T>A	c.(703-705)CTC>CAC	p.L235H	MAP2K1_uc010ujp.1_Missense_Mutation_p.L213H	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	235	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CCAGAAAGACTCCAGGGGACT	0.517		NaN							Cardiofaciocutaneous_syndrome				0	0	0	0.01441	0	86	143				
FBXO22	26263	broad.mit.edu	37	15	76225291	76225291	+	Missense_Mutation	SNP	T	T	G	rs150074021		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:76225291T>G	uc002bbk.2	+	7	1165	c.1060T>G	c.(1060-1062)TTA>GTA	p.L354V	FBXO22_uc002bbl.2_Missense_Mutation_p.L250V|FBXO22OS_uc002bbm.1_RNA	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	354					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						TAGTGTTCCCTTATTCGGCTT	0.408		NaN											0	0	0	0.01441	0	49	87				
ST20	400410	broad.mit.edu	37	15	80191455	80191455	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:80191455C>T	uc002bez.3	-	3	738	c.58G>A	c.(58-60)GTA>ATA	p.V20I	ST20_uc002bfa.3_Missense_Mutation_p.V20I|MTHFS_uc002bex.3_5'Flank	NM_001100879	NP_001094349	Q9HBF5	ST20_HUMAN	cervical cancer suppressor-1	20											0						AGCTTCTTTACAAAGCCATTT	0.318		NaN											0	0	0	0.008871	0	18	44				
CLUAP1	23059	broad.mit.edu	37	16	3556338	3556338	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3556338C>G	uc002cvk.1	+	3	247	c.142C>G	c.(142-144)CCC>GCC	p.P48A	CLUAP1_uc002cvj.1_Missense_Mutation_p.P48A|CLUAP1_uc002cvl.1_Missense_Mutation_p.P48A	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	48						nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TAGATATGAGCCCCAGACTGA	0.483		NaN											0	0	0	0.01441	0	80	48				
CREBBP	1387	broad.mit.edu	37	16	3788647	3788647	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3788647C>T	uc002cvv.2	-	26	4511	c.4307G>A	c.(4306-4308)AGT>AAT	p.S1436N	CREBBP_uc002cvw.2_Missense_Mutation_p.S1398N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1436	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAAATGAATACTATCCAGATA	0.423		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.010818	0	33	11		Valid		
CP110	9738	broad.mit.edu	37	16	19547561	19547561	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:19547561C>G	uc002dgl.3	+	4	817	c.570C>G	c.(568-570)ACC>ACG	p.T190T	CP110_uc002dgk.3_Silent_p.T190T			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	190	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						TTCCAAAGACCTCTTCAGCAA	0.393		NaN											0	0	0	0.01441	0	126	66				
GP2	2813	broad.mit.edu	37	16	20337750	20337750	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:20337750G>C	uc002dgv.2	-	2	87	c.4C>G	c.(4-6)CCT>GCT	p.P2A	GP2_uc002dgw.2_Missense_Mutation_p.P2A|GP2_uc002dgx.2_Missense_Mutation_p.P2A|GP2_uc002dgy.2_Missense_Mutation_p.P2A	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	2						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ATAAGGTGAGGCATGCAGGTC	0.498		NaN											0	0	0	0.01441	0	68	30				
FTO	79068	broad.mit.edu	37	16	53967950	53967950	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:53967950G>A	uc002ehr.2	+	8	1515	c.1293G>A	c.(1291-1293)AGG>AGA	p.R431R	FTO_uc010vha.1_Silent_p.R135R|FTO_uc010cbz.2_Silent_p.R32R|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	431					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGGAACAAAGGAATGAAATCT	0.428		NaN											0	0	0	0.009096	0	4	64				
CDH1	999	broad.mit.edu	37	16	68842337	68842337	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:68842337C>T	uc002ewg.1	+	4	522	c.398C>T	c.(397-399)TCT>TTT	p.S133F	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.S133F	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	133					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCCGTTTCTGGAATCCAA	0.478		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.01441	0	51	78				
HYDIN	54768	broad.mit.edu	37	16	70917863	70917863	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:70917863G>A	uc002ezr.2	-	59	10064	c.9936C>T	c.(9934-9936)GCC>GCT	p.A3312A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3313										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.488		NaN											0	0	0	0.016723	0	13	59				
KRT32	3882	broad.mit.edu	37	17	39623211	39623211	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:39623211C>T	uc002hwr.2	-	1	428	c.367G>A	c.(367-369)GAG>AAG	p.E123K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	123	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				CTCTCCAGCTCCGCATTCTCC	0.572		NaN											0	0	0	0.013114	0	49	148				
TLK2	11011	broad.mit.edu	37	17	60673977	60673977	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:60673977G>C	uc010ddp.2	+	18	1826	c.1558G>C	c.(1558-1560)GAG>CAG	p.E520Q	TLK2_uc002izx.3_Missense_Mutation_p.E346Q|TLK2_uc002izz.3_Missense_Mutation_p.E498Q|TLK2_uc002jaa.3_Missense_Mutation_p.E466Q|TLK2_uc010wpd.1_Missense_Mutation_p.E466Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	520	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GATTCATAAAGAGCTGGATCA	0.373		NaN											0	0	0	0.009718	0	40	118				
ARHGAP28	79822	broad.mit.edu	37	18	6876136	6876136	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:6876136G>C	uc010wzi.1	+	9	926	c.688G>C	c.(688-690)GAG>CAG	p.E230Q	ARHGAP28_uc002knc.2_Missense_Mutation_p.E355Q|ARHGAP28_uc002knd.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002kne.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002knf.2_Missense_Mutation_p.E239Q			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	230					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CTAGTTTTTTGAGAAAGTTGA	0.318		NaN											0	0	0	0.006214	0	9	96				
DSC3	1825	broad.mit.edu	37	18	28576944	28576944	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:28576944G>C	uc002kwj.3	-	15	2461	c.2306C>G	c.(2305-2307)TCA>TGA	p.S769*	DSC3_uc002kwi.3_Nonsense_Mutation_p.S769*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	769	Cytoplasmic (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTTCATTCCTGATCCCATAGT	0.433		NaN											0	0	0	0.012319	0	22	64				
DCC	1630	broad.mit.edu	37	18	50450132	50450132	+	Silent	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:50450132C>A	uc002lfe.1	+	4	1340	c.753C>A	c.(751-753)GCC>GCA	p.A251A	DCC_uc010xdr.1_Silent_p.A99A	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	251	Extracellular (Potential).|Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTAGTAGCCATTGAAGGAA	0.418		NaN											1	0	1.08052e-11	0.019004	1.19566e-11	35	53				
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:51013172G>A	uc002lfe.1	+	26	4329	c.3742G>A	c.(3742-3744)GTG>ATG	p.V1248M	DCC_uc010dpf.1_Missense_Mutation_p.V883M	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1248	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488		NaN											0	0	0	0.01441	0	67	94				
C19orf28	126321	broad.mit.edu	37	19	3550991	3550991	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:3550991G>A	uc002lxz.2	-	2	670	c.500C>T	c.(499-501)ACG>ATG	p.T167M	C19orf28_uc002lxw.2_Missense_Mutation_p.T167M|C19orf28_uc002lxx.2_Missense_Mutation_p.T167M|C19orf28_uc002lxy.2_Missense_Mutation_p.T158M	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	167					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGAGTGCCGTGAGCTCCAC	0.557		NaN											0	0	0	0.014323	0	23	15				
CCL25	6370	broad.mit.edu	37	19	8122718	8122718	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:8122718G>C	uc002mjd.2	+	4	359	c.359G>C	c.(358-360)GGA>GCA	p.G120A	CCL25_uc002mjc.3_Missense_Mutation_p.G119A|CCL25_uc010dvy.1_Missense_Mutation_p.W75C	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	120					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0						ttgagttctggaaactccaag	0		NaN											0	0	0	0.009535	0	17	68				
ZNF714	148206	broad.mit.edu	37	19	21300901	21300901	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:21300901G>A	uc002npo.3	+	6	1794	c.1434G>A	c.(1432-1434)GAG>GAA	p.E478E	ZNF714_uc002npl.2_Silent_p.E323E|ZNF714_uc010ecp.1_Silent_p.E429E|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATACTGGAGAGAAATCTTACA	0.308		NaN											0	0	0	0.020292	0	14	42				
NFKBID	84807	broad.mit.edu	37	19	36387690	36387690	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:36387690A>T	uc002oci.1	-	6	770	c.196T>A	c.(196-198)TAT>AAT	p.Y66N	NFKBID_uc002och.1_5'Flank|NFKBID_uc002ocj.1_Missense_Mutation_p.Y81N	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	66	ANK 1.				inflammatory response	nucleus					0						GCCGCAGCATATGCCGCCCAG	0.473		NaN											0	0	0	0.012319	0	20	25				
FAM98C	147965	broad.mit.edu	37	19	38893808	38893808	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:38893808G>A	uc002oin.1	+	1	34	c.15G>A	c.(13-15)AAG>AAA	p.K5K	FAM98C_uc002oio.1_Silent_p.K5K|FAM98C_uc010xtz.1_Silent_p.K5K	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	5										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCGGTGAAGGCGGAAGCGT	0.726		NaN											0	0	0	0.021553	0	4	22				
ZNF230	7773	broad.mit.edu	37	19	44514476	44514476	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:44514476C>G	uc002oyb.1	+	5	536	c.285C>G	c.(283-285)ATC>ATG	p.I95M		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	95	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GCCAGCAAATCTGGGAACAAA	0.468		NaN											0	0	0	0.010729	0	10	62				
ZNF211	10520	broad.mit.edu	37	19	58152819	58152819	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58152819T>C	uc002qpq.2	+	3	1145	c.965T>C	c.(964-966)TTT>TCT	p.F322S	ZNF211_uc010yhb.1_Missense_Mutation_p.F326S|ZNF211_uc002qpp.2_Missense_Mutation_p.F335S|ZNF211_uc002qpr.2_Missense_Mutation_p.F386S|ZNF211_uc002qps.2_Missense_Mutation_p.F387S|ZNF211_uc002qpt.2_Missense_Mutation_p.F334S|ZNF211_uc010yhc.1_Missense_Mutation_p.F334S|ZNF211_uc010yhd.1_Missense_Mutation_p.F261S|ZNF211_uc010yhe.1_Missense_Mutation_p.F313S	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	322	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAATCGTTTAGTCAGATA	0.418		NaN											0	0	0	0.01441	0	49	75				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NaN											1	0	0.00198382	0.001984	0.00209231	7	20				
ASB3	51130	broad.mit.edu	37	2	53992709	53992709	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:53992709T>C	uc002rxg.1	-	2	136	c.1A>G	c.(1-3)ATG>GTG	p.M1V	ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.M39V|ASB3_uc010yoo.1_Missense_Mutation_p.M1V|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	1					intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAAAATCCATTTGTTTGACC	0.443		NaN											0	0	0	0.00499	0	16	107				
C2orf78	388960	broad.mit.edu	37	2	74043846	74043846	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:74043846G>T	uc002sjr.1	+	3	2617	c.2496G>T	c.(2494-2496)GTG>GTT	p.V832V		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	832										ovary(2)	2						CCACTGCTGTGACCAGTCTCC	0.493		NaN											1	0	0.000442599	0.006214	0.000474214	9	69				
TTN	7273	broad.mit.edu	37	2	179597433	179597433	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:179597433A>G	uc010zfg.1	-	53	12847	c.12623T>C	c.(12622-12624)TTT>TCT	p.F4208S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F869S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5135							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGTTACAAAACTGGGTGG	0.403		NaN											0	0	0	0.008291	0	11	13				
COL4A4	1286	broad.mit.edu	37	2	227953429	227953429	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:227953429G>T	uc010zlt.1	-	22	2217	c.1563C>A	c.(1561-1563)GGC>GGA	p.G521G		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	521	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCAAGCCAGCCAGGGAGCC	0.587		NaN											1	0	9.4957e-49	0.01441	1.15488e-48	111	71				
ProSAPiP1	9762	broad.mit.edu	37	20	3147630	3147630	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:3147630C>T	uc002wia.1	-	1	1578	c.180G>A	c.(178-180)GGG>GGA	p.G60G	ProSAPiP1_uc002wib.1_Silent_p.G60G	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	60	Poly-Gly.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						TGCCCCCACCCCCTGTGCGGG	0.716		NaN											0	0	0	0.010729	0	11	19				
CD93	22918	broad.mit.edu	37	20	23066316	23066316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:23066316C>T	uc002wsv.2	-	1	662	c.514G>A	c.(514-516)GGA>AGA	p.G172R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	172	Extracellular (Potential).|C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ATGTTACTTCCGGGGGAGCCT	0.652		NaN											0	0	0	0.016723	0	12	111				
EMILIN3	90187	broad.mit.edu	37	20	39992445	39992445	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:39992445A>T	uc002xjy.1	-	3	571	c.347T>A	c.(346-348)CTC>CAC	p.L116H		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	116	EMI.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				ACGCCAGGCGAGGTCTGTCAC	0.617		NaN											0	0	0	0.01441	0	61	136				
MMP9	4318	broad.mit.edu	37	20	44640354	44640354	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:44640354G>A	uc002xqz.2	+	6	984	c.965G>A	c.(964-966)CGG>CAG	p.R322Q		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	322	Fibronectin type-II 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AACTACGACCGGGACAAGCTC	0.627		NaN									OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	5	28				
SON	6651	broad.mit.edu	37	21	34926719	34926719	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:34926719A>G	uc002yse.1	+	3	5231	c.5182A>G	c.(5182-5184)ATT>GTT	p.I1728V	SON_uc002ysb.1_Missense_Mutation_p.I1728V|SON_uc002ysc.2_Missense_Mutation_p.I1728V|SON_uc002ysd.2_Missense_Mutation_p.I719V|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.I719V	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1728					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TATTGAGGATATTAATGAAGC	0.433		NaN											0	0	0	0.01441	0	78	150				
PCNT	5116	broad.mit.edu	37	21	47783573	47783573	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:47783573C>G	uc002zji.3	+	14	2440	c.2333C>G	c.(2332-2334)GCT>GGT	p.A778G	PCNT_uc002zjj.2_Missense_Mutation_p.A660G	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	778	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGAGAAAAGGCTGAATCCGAG	0.463		NaN											0	0	0	0.024245	0	15	149				
POTEH	23784	broad.mit.edu	37	22	16279260	16279260	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:16279260T>C	uc010gqp.2	-	4	1015	c.963A>G	c.(961-963)AAA>AAG	p.K321K	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.K40K|POTEH_uc002zlj.1_Silent_p.K156K	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	321	ANK 5.									skin(1)	1						CCACTTGCTGTTTTTGCTCAT	0.323		NaN											0	0	0	0.015359	0	32	446				
SLC5A4	6527	broad.mit.edu	37	22	32647856	32647856	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:32647856G>A	uc003ami.2	-	3	215	c.213C>T	c.(211-213)GGC>GGT	p.G71G		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	71	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						AGAGAGAGGCGCCCATCTGGA	0.438		NaN											0	0	0	0.01441	0	44	35				
FBLN2	2199	broad.mit.edu	37	3	13669333	13669333	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:13669333C>T	uc011avb.1	+	10	2417	c.2292C>T	c.(2290-2292)GAC>GAT	p.D764D	FBLN2_uc011auz.1_Silent_p.D790D|FBLN2_uc011ava.1_Silent_p.D811D|FBLN2_uc011avc.1_Silent_p.D811D	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	764	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCTGCAGACGTGGATGAGT	0.652		NaN											0	0	0	0.016723	0	12	24				
ITGA9	3680	broad.mit.edu	37	3	37826549	37826549	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:37826549G>C	uc003chd.2	+	26	2922	c.2869G>C	c.(2869-2871)GGG>CGG	p.G957R		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	957	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AATAGCTCATGGGAACCCAGA	0.562		NaN											0	0	0	0.014323	0	21	67				
PLXNB1	5364	broad.mit.edu	37	3	48453976	48453976	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48453976G>A	uc003csw.2	-	26	5178	c.4908C>T	c.(4906-4908)TAC>TAT	p.Y1636Y	PLXNB1_uc003cst.2_Silent_p.Y86Y|PLXNB1_uc003csu.2_Silent_p.Y1453Y|PLXNB1_uc003csx.2_Silent_p.Y1636Y	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1636	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGATGCCACGTAGGCACGGT	0.572		NaN											0	0	0	0.00499	0	18	58				
COL7A1	1294	broad.mit.edu	37	3	48605196	48605196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48605196C>A	uc003ctz.2	-	107	7931	c.7930G>T	c.(7930-7932)GGA>TGA	p.G2644*		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2644	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGCTTCTCCCTGCAGGCAT	0.672		NaN											1	0	5.99346e-17	0.01441	6.85692e-17	54	139				
LRIG1	26018	broad.mit.edu	37	3	66430809	66430809	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:66430809A>G	uc003dmx.2	-	19	3174	c.3160T>C	c.(3160-3162)TAC>CAC	p.Y1054H	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.Y674H|LRIG1_uc003dmw.2_Missense_Mutation_p.Y720H|LRIG1_uc010hnz.2_Missense_Mutation_p.Y770H|LRIG1_uc010hoa.2_Missense_Mutation_p.Y1031H	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	1054	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACAAGCAAGTACTGGGCTTCC	0.567		NaN											0	0	0	0.025465	0	38	131				
GPR128	84873	broad.mit.edu	37	3	100364943	100364943	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:100364943T>C	uc003duc.2	+	9	1369	c.1101T>C	c.(1099-1101)TTT>TTC	p.F367F	GPR128_uc011bhc.1_Silent_p.F68F	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	367	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						ACATGGTCTTTAGTCCAAAGG	0.378		NaN											0	0	0	0.012213	0	29	51				
STXBP5L	9515	broad.mit.edu	37	3	120973778	120973778	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:120973778A>T	uc003eec.3	+	16	1618	c.1478A>T	c.(1477-1479)AAA>ATA	p.K493I	STXBP5L_uc011bji.1_Missense_Mutation_p.K493I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	493					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AAAACTTCAAAAGTGTTTGAA	0.348		NaN											0	0	0	0.013537	0	11	21				
ACPP	55	broad.mit.edu	37	3	132050577	132050577	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:132050577G>A	uc010htp.2	+	3	393	c.303G>A	c.(301-303)CAG>CAA	p.Q101Q	ACPP_uc003eon.3_Silent_p.Q101Q|ACPP_uc003eop.3_Silent_p.Q101Q	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	101						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						AACATGAACAGGCAAGTTGGG	0.348		NaN											0	0	0	0.004482	0	8	21				
ZNF639	51193	broad.mit.edu	37	3	179050893	179050893	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:179050893C>T	uc003fjq.1	+	5	629	c.286C>T	c.(286-288)CAC>TAC	p.H96Y	ZNF639_uc003fjr.1_Missense_Mutation_p.H96Y	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	96					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			aattctagaccacactgcctT	0.119		NaN											0	0	0	0.001984	0	7	13				
SLC4A4	8671	broad.mit.edu	37	4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:72399971G>A	uc003hfy.2	+	18	2425	c.2308G>A	c.(2308-2310)GTT>ATT	p.V770I	SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	770	Interaction with CA4.|Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGTTGGTTCGTTCCACCGTT	0.423		NaN											0	0	0	0.008871	0	19	32				
INTU	27152	broad.mit.edu	37	4	128632073	128632073	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:128632073C>T	uc003ifk.1	+	14	2445	c.2375C>T	c.(2374-2376)ACA>ATA	p.T792I	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	792										ovary(1)	1						TTAAGACTGACATCTGGTCCT	0.333		NaN											0	0	0	0.01441	0	48	30				
USP38	84640	broad.mit.edu	37	4	144134859	144134859	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:144134859G>A	uc003ijb.2	+	9	2264	c.1730G>A	c.(1729-1731)CGT>CAT	p.R577H	USP38_uc003ija.3_Missense_Mutation_p.R577H|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	577					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GAGACCCCTCGTACAAGTGAC	0.413		NaN											0	0	0	0.00308	0	7	43				
FBXW7	55294	broad.mit.edu	37	4	153253770	153253770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:153253770C>T	uc003ims.2	-	6	1112	c.963G>A	c.(961-963)TGG>TGA	p.W321*	FBXW7_uc011cii.1_Nonsense_Mutation_p.W321*|FBXW7_uc003imt.2_Nonsense_Mutation_p.W321*|FBXW7_uc011cih.1_Nonsense_Mutation_p.W145*|FBXW7_uc003imq.2_Nonsense_Mutation_p.W241*|FBXW7_uc003imr.2_Nonsense_Mutation_p.W203*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	321	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTTCTCTCTCCAGAGAAGGT	0.393		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.013726	0	32	19		Valid		
HCN1	348980	broad.mit.edu	37	5	45303773	45303773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:45303773G>A	uc003jok.2	-	6	1571	c.1546C>T	c.(1546-1548)CAA>TAA	p.Q516*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	516	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ACACCGTGTTGAATGAAATAC	0.388		NaN											0	0	0	0.006214	0	10	116				
MAP1B	4131	broad.mit.edu	37	5	71494957	71494957	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:71494957C>G	uc003kbw.3	+	5	6016	c.5775C>G	c.(5773-5775)ACC>ACG	p.T1925T	MAP1B_uc010iyw.1_Silent_p.T1942T|MAP1B_uc010iyx.1_Silent_p.T1799T|MAP1B_uc010iyy.1_Silent_p.T1799T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1925	MAP1B 3.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		CCTATGAGACCATTGGGAAAA	0.463		NaN											0	0	0	0.00308	0	8	71				
KDM3B	51780	broad.mit.edu	37	5	137761206	137761206	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:137761206G>T	uc003lcy.1	+	17	4546	c.4346G>T	c.(4345-4347)AGG>ATG	p.R1449M	KDM3B_uc010jew.1_Missense_Mutation_p.R1105M|KDM3B_uc011cys.1_Missense_Mutation_p.R481M	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GTGAACTGCAGGAACTGTGCT	0.448		NaN											1	0	1.61788e-16	0.012213	1.83541e-16	33	111				
OR10C1	442194	broad.mit.edu	37	6	29408490	29408490	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:29408490G>A	uc011dlp.1	+	1	698	c.698G>A	c.(697-699)CGC>CAC	p.R233H	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTTGCGGGCCGCCGCAAGGCC	0.587		NaN											0	0	0	0.017118	0	32	313				
GPR111	222611	broad.mit.edu	37	6	47649716	47649716	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:47649716A>T	uc010jzj.1	+	6	1422	c.1421A>T	c.(1420-1422)CAA>CTA	p.Q474L	GPR111_uc010jzk.1_Missense_Mutation_p.Q406L|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	474	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GTCTGGAGCCAAGTGACAAAG	0.448		NaN											0	0	0	0.01441	0	68	63				
AHR	196	broad.mit.edu	37	7	17378759	17378759	+	Missense_Mutation	SNP	G	G	T	rs138430398		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:17378759G>T	uc011jxz.1	+	10	1923	c.1310G>T	c.(1309-1311)GGA>GTA	p.G437V	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	437					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GGCACTAGTGGAAAAGACTCT	0.438		NaN											1	0	3.03874e-20	0.015359	3.53646e-20	35	65				
PDE1C	5137	broad.mit.edu	37	7	31912954	31912954	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:31912954A>G	uc003tcm.1	-	6	1029	c.560T>C	c.(559-561)TTT>TCT	p.F187S	PDE1C_uc003tcn.1_Missense_Mutation_p.F187S|PDE1C_uc003tco.1_Missense_Mutation_p.F247S|PDE1C_uc003tcr.2_Missense_Mutation_p.F187S|PDE1C_uc003tcs.2_Missense_Mutation_p.F187S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	187					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			ATAGAAAATAAATTTCAGTGC	0.398		NaN											0	0	0	0.007291	0	25	32				
SEMA3A	10371	broad.mit.edu	37	7	83675657	83675657	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:83675657T>A	uc003uhz.2	-	6	965	c.650A>T	c.(649-651)GAT>GTT	p.D217V		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	217	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						CCACCTGGAATCATGCTGCTC	0.428		NaN											0	0	0	0.008871	0	17	139				
ZKSCAN5	23660	broad.mit.edu	37	7	99117480	99117480	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:99117480C>T	uc003uqv.2	+	4	708	c.584C>T	c.(583-585)CCC>CTC	p.P195L	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)					CCTTCCCTTCCCCTGAAGGAC	0.532		NaN											0	0	0	0.012213	0	28	91				
FBXO24	26261	broad.mit.edu	37	7	100189393	100189393	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:100189393C>T	uc003uvm.1	+	4	719	c.426C>T	c.(424-426)ACC>ACT	p.T142T	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Silent_p.T128T|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Silent_p.T180T|FBXO24_uc011kka.1_Silent_p.T130T	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	142						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTGCCCACCAAGGATCACG	0.607		NaN											0	0	0	0.01441	0	41	66				
RELN	5649	broad.mit.edu	37	7	103243875	103243875	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:103243875A>G	uc003vca.2	-	24	3369	c.3209T>C	c.(3208-3210)ATG>ACG	p.M1070T	RELN_uc010liz.2_Missense_Mutation_p.M1070T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1070					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAATCTGACATAATTGTGGA	0.507		NaN											0	0	0	0.009535	0	31	93				
RNF133	168433	broad.mit.edu	37	7	122338738	122338738	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:122338738C>G	uc003vkj.1	-	1	471	c.235G>C	c.(235-237)GAG>CAG	p.E79Q	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	79	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						ATTTTTCCCTCTGGTGGCACT	0.448		NaN											0	0	0	0.019004	0	38	94				
ANK1	286	broad.mit.edu	37	8	41615618	41615618	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:41615618G>A	uc003xok.2	-	2	149	c.65C>T	c.(64-66)TCA>TTA	p.S22L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.S22L|ANK1_uc003xoj.2_Missense_Mutation_p.S22L|ANK1_uc003xol.2_Missense_Mutation_p.S22L|ANK1_uc003xom.2_Missense_Mutation_p.S55L	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	22	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAGTTACCTGATCTTGCTGC	0.507		NaN											0	0	0	0.01441	0	63	297				
ADCY8	114	broad.mit.edu	37	8	131861957	131861957	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:131861957G>C	uc003ytd.3	-	10	2559	c.2303C>G	c.(2302-2304)CCC>CGC	p.P768R	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	768					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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGGATGAGGGGCAAACATTT	0.473		NaN								HNSCC(32;0.087)			0	0	0	0.020292	0	15	41				
ARHGAP39	80728	broad.mit.edu	37	8	145770746	145770746	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:145770746C>T	uc003zdt.1	-	7	2963	c.2408G>A	c.(2407-2409)CGC>CAC	p.R803H	ARHGAP39_uc011llk.1_Missense_Mutation_p.R803H|ARHGAP39_uc003zds.1_Missense_Mutation_p.R803H	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	803	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CTCCCAGCCGCGGGCCAGGCT	0.662		NaN											0	0	0	0.008291	0	10	99				
FRMPD1	22844	broad.mit.edu	37	9	37746199	37746199	+	Silent	SNP	C	C	T	rs147765962		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:37746199C>T	uc004aag.1	+	16	4214	c.4170C>T	c.(4168-4170)ACC>ACT	p.T1390T	FRMPD1_uc004aah.1_Silent_p.T1390T	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1390						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GCTGCACCACCGCACCCCTGT	0.662		NaN											0	0	0	0.01441	0	66	71				
C9orf41	138199	broad.mit.edu	37	9	77642968	77642968	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642968C>T	uc004ajq.2	-	1	343	c.190G>A	c.(190-192)GAG>AAG	p.E64K	C9orf41_uc011lsi.1_RNA	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	64										ovary(1)|skin(1)	2						CAGAAGTGCTCACGCTCAAGC	0.557		NaN											0	0	0	0.009096	0	4	10				
C9orf41	138199	broad.mit.edu	37	9	77642970	77642970	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642970C>T	uc004ajq.2	-	1	341	c.188G>A	c.(187-189)CGT>CAT	p.R63H	C9orf41_uc011lsi.1_RNA	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	63										ovary(1)|skin(1)	2						GAAGTGCTCACGCTCAAGCCT	0.557		NaN											0	0	0	0.009096	0	4	10				
GCNT1	2650	broad.mit.edu	37	9	79118499	79118499	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:79118499A>C	uc010mpf.2	+	3	1543	c.1202A>C	c.(1201-1203)AAG>ACG	p.K401T	GCNT1_uc010mpg.2_Missense_Mutation_p.K401T|GCNT1_uc010mph.2_Missense_Mutation_p.K401T|GCNT1_uc004akf.3_Missense_Mutation_p.K401T|GCNT1_uc010mpi.2_Missense_Mutation_p.K401T|GCNT1_uc004akh.3_Missense_Mutation_p.K401T	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	401	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						TTTGCCAATAAGTTTGACGTG	0.488		NaN											0	0	0	0.007413	0	19	142				
AGTPBP1	23287	broad.mit.edu	37	9	88272367	88272367	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:88272367G>A	uc011ltd.1	-	9	925	c.892C>T	c.(892-894)CTG>TTG	p.L298L	AGTPBP1_uc011ltc.1_Silent_p.L196L|AGTPBP1_uc010mqc.2_Silent_p.L298L|AGTPBP1_uc011lte.1_Silent_p.L350L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	298					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GTATTATACAGAATTTTCATC	0.289		NaN											0	0	0	0.00308	0	7	52				
CDK20	23552	broad.mit.edu	37	9	90584799	90584799	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:90584799C>A	uc004apr.2	-	6	905	c.599G>T	c.(598-600)GGG>GTG	p.G200V	CDK20_uc004aps.2_Missense_Mutation_p.G179V|CDK20_uc004apt.2_Missense_Mutation_p.G192V|CDK20_uc004apu.2_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	200	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAGGGGGGACCCATTCAACAG	0.577		NaN											1	0	4.88506e-25	0.01441	5.78493e-25	60	103				
TMEM47	83604	broad.mit.edu	37	X	34657461	34657461	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:34657461G>T	uc004ddh.2	-	2	529	c.270C>A	c.(268-270)GCC>GCA	p.A90A	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	90	Helical; (Potential).					integral to membrane				lung(1)	1						TGAGAATGATGGCAGCGCCGC	0.448		NaN											1	0	3.09899e-07	0.004482	3.3469e-07	8	7				
BCOR	54880	broad.mit.edu	37	X	39933138	39933138	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:39933138T>C	uc004den.3	-	4	1753	c.1461A>G	c.(1459-1461)CTA>CTG	p.L487L	BCOR_uc004dep.3_Silent_p.L487L|BCOR_uc004deo.3_Silent_p.L487L|BCOR_uc004dem.3_Silent_p.L487L|BCOR_uc004deq.3_Silent_p.L487L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	487					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						CTGGAGGAGATAGTGTTTCTT	0.512		NaN											0	0	0	0.009718	0	44	18				
ABCD1	215	broad.mit.edu	37	X	152994806	152994806	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:152994806C>T	uc004fif.2	+	2	1419	c.1020C>T	c.(1018-1020)AGC>AGT	p.S340S		NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	340	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTGGAGCGCCTCGGGCC	0.597		NaN											0	0	0	0.028581	0	14	110				
LHX9	56956	broad.mit.edu	37	1	197881675	197881675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:197881675delC	uc001gui.1	+	1	41	c.14delC	c.(13-15)ACCfs	p.T5fs	LHX9_uc009wzc.1_RNA	NM_001014434	NP_001014434	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 2	Error:Variant_position_missing_in_Q9NQ69_after_alignment					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CTGAACGGTACCACTCTAGAG	0.567		NaN											NaN	NaN	NaN	NaN	NaN	91	139	---		---	---
OR13G1	441933	broad.mit.edu	37	1	247835572	247835572	+	Frame_Shift_Del	DEL	G	G	-	rs117404602	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:247835572delG	uc001idi.1	-	1	772	c.772delC	c.(772-774)CGCfs	p.R258fs		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			GAAGCAGGGCGGATATAGGTG	0.463		NaN											NaN	NaN	NaN	NaN	NaN	62	70	---		---	---
FAM21A	387680	broad.mit.edu	37	10	51855357	51855359	+	Splice_Site	DEL	AGG	AGG	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:51855357_51855359delAGG	uc001jjb.2	+	15	1323	c.1241_splice	c.e15-1	p.G414_splice	FAM21A_uc001jja.1_Splice_Site_p.G166_splice|FAM21A_uc010qhi.1_Splice_Site_p.G414_splice|FAM21A_uc010qhj.1_Splice_Site_p.G414_splice|FAM21B_uc009xoq.2_Splice_Site_p.G326_splice	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN	hypothetical protein LOC387680						retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				ovary(1)	1						TTCCACCCACAGGAGACACGGAT	0.512		NaN											NaN	NaN	NaN	NaN	NaN	17	38	---		---	---
OR52K1	390036	broad.mit.edu	37	11	4510227	4510227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:4510227delT	uc001lza.1	+	1	97	c.97delT	c.(97-99)TTCfs	p.F33fs		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCCATCCCCTTCTGCTTTGC	0.498		NaN											NaN	NaN	NaN	NaN	NaN	99	63	---		---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Frame_Shift_Ins	INS	-	-	T	rs68192524		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102738795_102738796insT	uc001phk.2	-	5	674_675	c.629_630insA	c.(628-630)ACCfs	p.T210fs		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416		NaN											NaN	NaN	NaN	NaN	NaN	15	221	---		---	---
USP5	8078	broad.mit.edu	37	12	6973255	6973287	+	In_Frame_Del	DEL	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	uc001qri.3	+	17	2199_2231	c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	c.(2140-2172)GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTdel	p.GSTSAAADPPP714del	USP5_uc001qrh.3_In_Frame_Del_p.GSTSAAADPPP691del	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	714_724	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.D698N(1)		lung(2)|breast(1)|skin(1)	4						TAGTGGGCCGGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTGAGGACTGTG	0.635		NaN											NaN	NaN	NaN	NaN	NaN	7	188	---		---	---
AVPR1A	552	broad.mit.edu	37	12	63543915	63543926	+	In_Frame_Del	DEL	GGTACCCAAGAT	GGTACCCAAGAT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:63543915_63543926delGGTACCCAAGAT	uc001sro.1	-	1	2665_2676	c.691_702delATCTTGGGTACC	c.(691-702)ATCTTGGGTACCdel	p.ILGT231del		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	231_234	Helical; Name=5; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGCCGTAGCAGGTACCCAAGATGACCACGGGC	0.632		NaN											NaN	NaN	NaN	NaN	NaN	36	74	---		---	---
VPS33A	65082	broad.mit.edu	37	12	122745915	122745919	+	Frame_Shift_Del	DEL	TCAAC	TCAAC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:122745915_122745919delTCAAC	uc001ucd.2	-	4	485_489	c.372_376delGTTGA	c.(370-378)CGGTTGAAGfs	p.R124fs	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Frame_Shift_Del_p.R124fs	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	124_126					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCAGATCCTTCAACCGCTGTTCGC	0.473		NaN											NaN	NaN	NaN	NaN	NaN	55	131	---		---	---
NEK3	4752	broad.mit.edu	37	13	52707832	52707832	+	Frame_Shift_Del	DEL	C	C	-	rs34488913	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:52707832delC	uc001vgi.2	-	17	1664	c.1429delG	c.(1429-1431)GAGfs	p.E477fs	NEK3_uc001vgg.2_Frame_Shift_Del_p.E454fs|NEK3_uc001vgh.2_Frame_Shift_Del_p.E481fs|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Frame_Shift_Del_p.E460fs	NM_152720	NP_689933	P51956	NEK3_HUMAN	NIMA-related kinase 3 isoform a	477					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACGTGTCCTCCTCATCTAGC	0.408		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SMTNL2	342527	broad.mit.edu	37	17	4510756	4510756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:4510756delT	uc002fyf.1	+	8	1427	c.1360delT	c.(1360-1362)TACfs	p.Y454fs	SMTNL2_uc002fye.2_Frame_Shift_Del_p.Y310fs|uc002fyg.1_5'Flank	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	454	CH.										0				READ - Rectum adenocarcinoma(115;0.0325)		CCAGTCGCTGTACAACCACCT	0.612		NaN											NaN	NaN	NaN	NaN	NaN	117	91	---		---	---
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:40336501_40336503delGCA	uc002hzc.1	-	2	152_154	c.65_67delTGC	c.(64-69)CTGCCG>CCG	p.L22del		NM_001524	NP_001515	O43612	OREX_HUMAN	orexin precursor	22					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle					0		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.606		NaN											NaN	NaN	NaN	NaN	NaN	4	8	---		---	---
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs142406301	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:73626918_73626919insTG	uc010dgl.2	-	12	1742	c.1586_splice	c.e12-1	p.D529_splice	RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1						DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					NaN	NaN	NaN	NaN	NaN	5	10	---		---	---
FAM126B	285172	broad.mit.edu	37	2	201846351	201846351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:201846351delG	uc002uws.3	-	12	1423	c.1235delC	c.(1234-1236)CCAfs	p.P412fs	FAM126B_uc002uwu.2_Frame_Shift_Del_p.P386fs|FAM126B_uc002uwv.2_Frame_Shift_Del_p.P412fs	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	412						intracellular				ovary(1)	1						AAGATCAGTTGGTTGCTGTAC	0.478		NaN											NaN	NaN	NaN	NaN	NaN	9	67	---		---	---
CSNK1E	1454	broad.mit.edu	37	22	38696882	38696883	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:38696882_38696883delGC	uc003avj.2	-	5	672_673	c.411_412delGC	c.(409-414)GGGCTGfs	p.G137fs	CSNK1E_uc003avk.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avo.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avp.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avq.1_Frame_Shift_Del_p.G137fs	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	137_138	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					TTCTTCCCCAGCCCCATGAGGA	0.569		NaN											NaN	NaN	NaN	NaN	NaN	72	68	---		---	---
CACNA1F	778	broad.mit.edu	37	X	49089732	49089749	+	Splice_Site	DEL	GAAGGATTCTCTCACCTT	GAAGGATTCTCTCACCTT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:49089732_49089749delGAAGGATTCTCTCACCTT	uc004dnb.2	-	1	87	c.25_splice	c.e1+1	p.D9_splice	CACNA1F_uc010nip.2_Splice_Site_p.D9_splice|CCDC22_uc011mna.1_5'Flank|CCDC22_uc004dnc.1_5'Flank|CCDC22_uc004dnd.1_5'Flank	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	TGCAGGGATGGAAGGATTCTCTCACCTTTCCCGCCTTC	0.578		NaN											NaN	NaN	NaN	NaN	NaN	11	26	---		---	---
