Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CSMD3	114788	broad.mit.edu	37	8	113694836	113694836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr8:113694836C>A	ENST00000297405.5	-	16	2756	c.2512G>T	c.(2512-2514)Gga>Tga	p.G838*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G734*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G838*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G798*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	838	Sushi 4.					integral to membrane|plasma membrane		p.G838*(1)|p.G798*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGGTATTCCAGGATCAGGG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	68					1.17739e-12	1.57292e-12	0.005443	1	0
DIP2B	57609	broad.mit.edu	37	12	51065071	51065071	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:51065071G>A	ENST00000301180.5	+	5	564	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	177	Ser-rich.					nucleus	catalytic activity|transcription factor binding	p.R177H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGATCAACCGTTCAATTCAG	0.527000													17	112					0	0	0.004007	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													3	79					0	0	0.003080	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	219					0	0	0.000602	0	0
TYW1B	441250	broad.mit.edu	37	7	72081774	72081774	+	RNA	SNP	A	A	G	rs3015854	by1000genomes	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:72081774A>G	ENST00000438125.1	-	0	1281							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCCAGGGCACATGGGCCATGG	0.493000													7	77					0	0	0.001984	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	87					0	0	0.000248	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496622	20496622	+	RNA	SNP	A	A	T	rs2601530	by1000genomes	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:20496622A>T	ENST00000555186.1	+	0	675					NR_038836.1																						AAGTGGCCTCATGAAGGGGAA	0.438000													22	188					0	0	0.001523	0	0
DBT	1629	broad.mit.edu	37	1	100676288	100676288	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:100676288C>A	ENST00000370132.3	-	8	992	c.979G>T	c.(979-981)Gct>Tct	p.A327S	DBT_ENST00000370131.3_3'UTR	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	327					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.A327T(1)|p.A327S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCACAGAAGCGTTAAGGATA	0.338000													20	75					1.50039e-11	1.97359e-11	0.001882	1	0
HTR2C	3358	broad.mit.edu	37	X	113965913	113965913	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:113965913G>T	ENST00000276198.1	+	4	974	c.246G>T	c.(244-246)aaG>aaT	p.K82N	HTR2C_ENST00000371951.1_Missense_Mutation_p.K82N|HTR2C_ENST00000371950.3_Missense_Mutation_p.K82N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	82					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GCATGGAAAAGAAACTGCACA	0.448000													4	118					2.56e-06	2.99836e-06	0.000248	1	0
GABRR1	2569	broad.mit.edu	37	6	89888768	89888768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:89888768G>T	ENST00000435811.1	-	9	1564	c.1110C>A	c.(1108-1110)agC>agA	p.S370R	GABRR1_ENST00000369451.3_Missense_Mutation_p.S300R|GABRR1_ENST00000454853.2_Missense_Mutation_p.S387R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	387					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.S381R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GAGGTAATCCGCTGGTGCAGG	0.542000													11	21					1.08611e-07	1.31719e-07	0.000978	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	62					0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141709451	141709451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:141709451G>T	ENST00000389484.3	-	19	3917	c.2946C>A	c.(2944-2946)agC>agA	p.S982R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	982	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S982R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATTTGCTGCTAATGCATC	0.443000										TSP Lung(27;0.18)			20	31					7.92952e-12	1.05112e-11	0.003954	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140616088	140616088	+	RNA	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr5:140616088C>A	ENST00000526308.1	+	0	2151					NR_001281.1													p.A601A(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCGCTCGGCCACCGCCACGC	0.716000													4	38					1.23904e-05	1.43159e-05	0.000602	1	0
PKD1L1	168507	broad.mit.edu	37	7	47894610	47894610	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:47894610C>A	ENST00000289672.2	-	30	4779	c.4729G>T	c.(4729-4731)Gta>Tta	p.V1577L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1577					cell-cell adhesion	integral to membrane		p.V1577L(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGAAGTAATACAAATGTCGTT	0.348000													18	60					5.01169e-05	5.71333e-05	0.004990	1	0
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592000													6	171					0	0	0.008291	0	0
LOC653786	653786	broad.mit.edu	37	16	22588015	22588015	+	RNA	SNP	A	A	G	rs460493	by1000genomes	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:22588015A>G	ENST00000550753.1	+	0	2490					NR_003676.2																						TGGCCTGAGCACATCGTCCTG	0.557000													4	165					0	0	0.001855	0	0
ZNF254	9534	broad.mit.edu	37	19	24310436	24310436	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:24310436C>G	ENST00000357002.4	+	4	1749	c.1634C>G	c.(1633-1635)cCc>cGc	p.P545R	ZNF254_ENST00000342944.6_Missense_Mutation_p.P460R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	545					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P545R(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAAGAGAAACCCTACAAATGT	0.363000													13	26					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179614601	179614601	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:179614601T>A	ENST00000360870.5	-	46	12748	c.12526A>T	c.(12526-12528)Atc>Ttc	p.I4176F	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3520							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGAATGATGGAATCCCCT	0.373000													22	45					0	0	0.001882	0	0
SNX24	28966	broad.mit.edu	37	5	122281813	122281813	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr5:122281813G>A	ENST00000261369.4	+	3	393	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	SNX24_ENST00000513881.1_Missense_Mutation_p.V70I|SNX24_ENST00000506996.1_Missense_Mutation_p.V70I|SNX24_ENST00000395451.4_Missense_Mutation_p.V103I|SNX24_ENST00000511211.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	70	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.V70I(1)		lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GGTCCCCAAAGTCTTGGAACA	0.323000													7	41					0	0	0.004482	0	0
UNC13C	440279	broad.mit.edu	37	15	54793103	54793103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:54793103G>A	ENST00000545554.1	+	21	5228	c.5228G>A	c.(5227-5229)aGc>aAc	p.S1743N	UNC13C_ENST00000260323.11_Missense_Mutation_p.S1743N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1741N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1743	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1743N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAATCAGAGCTTTGAAATT	0.408000													13	100					0	0	0.002450	0	0
TCF4	6925	broad.mit.edu	37	18	52901847	52901847	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr18:52901847G>T	ENST00000354452.3	-	16	2029	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q	TCF4_ENST00000544241.2_Missense_Mutation_p.P402Q|TCF4_ENST00000561992.1_Missense_Mutation_p.P343Q|TCF4_ENST00000356073.4_Missense_Mutation_p.P473Q|TCF4_ENST00000537856.3_Missense_Mutation_p.P343Q|TCF4_ENST00000567880.1_Missense_Mutation_p.P413Q|TCF4_ENST00000565018.2_Missense_Mutation_p.P473Q|TCF4_ENST00000561831.3_Missense_Mutation_p.P313Q|TCF4_ENST00000398339.1_Missense_Mutation_p.P575Q|TCF4_ENST00000540999.1_Missense_Mutation_p.P449Q|TCF4_ENST00000564228.1_Missense_Mutation_p.P402Q|TCF4_ENST00000564999.1_Missense_Mutation_p.P473Q|TCF4_ENST00000568673.1_Missense_Mutation_p.P449Q|TCF4_ENST00000570177.2_Missense_Mutation_p.P343Q|TCF4_ENST00000566286.1_Missense_Mutation_p.P470Q|TCF4_ENST00000543082.1_Missense_Mutation_p.P431Q|TCF4_ENST00000537578.1_Missense_Mutation_p.P449Q|TCF4_ENST00000568740.1_Missense_Mutation_p.P448Q|TCF4_ENST00000564403.2_Missense_Mutation_p.P479Q|TCF4_ENST00000457482.3_Missense_Mutation_p.P313Q|TCF4_ENST00000570287.2_Missense_Mutation_p.P313Q|TCF4_ENST00000566279.1_Missense_Mutation_p.P413Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	473					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.P575Q(1)|p.P473Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTGTGGAACCGGAACCTGGTT	0.597000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	60					1.01871e-10	1.3197e-10	0.008871	1	0
AFF2	2334	broad.mit.edu	37	X	147924509	147924509	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:147924509C>T	ENST00000370460.2	+	6	1672	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	AFF2_ENST00000342251.3_Missense_Mutation_p.P365L|AFF2_ENST00000370457.5_Missense_Mutation_p.P365L|AFF2_ENST00000286437.5_Missense_Mutation_p.P39L|AFF2_ENST00000370458.1_Missense_Mutation_p.P365L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	398					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P398L(2)|p.P39L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTGACCCCAGGATTCACC	0.348000													36	145					0	0	0.003271	0	0
SLC41A1	254428	broad.mit.edu	37	1	205760707	205760707	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:205760707T>A	ENST00000367137.3	-	11	2510	c.1496A>T	c.(1495-1497)cAt>cTt	p.H499L	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	499						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	p.H499L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCAGAGAACATGGAAGCTGAG	0.552000											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	37					0	0	0.000248	0	0
ACTR3B	57180	broad.mit.edu	37	7	152549330	152549330	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:152549330G>A	ENST00000256001.8	+	10	1205	c.1071G>A	c.(1069-1071)agG>agA	p.R357R	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Silent_p.R269R|ACTR3B_ENST00000537264.1_Silent_p.R269R	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	357					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	p.R357R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GCGGCGGGAGGATCAAGGTAG	0.637000													12	38					0	0	0.001368	0	0
UBR4	23352	broad.mit.edu	37	1	19448475	19448475	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:19448475G>A	ENST00000375267.2	-	67	9851	c.9848C>T	c.(9847-9849)gCc>gTc	p.A3283V	UBR4_ENST00000375254.3_Missense_Mutation_p.A3283V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3276V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3259V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3283					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.A3283V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCGCTGGGCGGCAATCTCTGC	0.478000													3	30					0	0	0.004672	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	70					0	0	0.008291	0	0
GPR137B	7107	broad.mit.edu	37	1	236343183	236343183	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:236343183C>T	ENST00000366592.3	+	4	783	c.692C>T	c.(691-693)tCc>tTc	p.S231F	GPR137B_ENST00000366591.4_Missense_Mutation_p.S140F	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	231						integral to plasma membrane|membrane fraction		p.S231F(1)|p.S140F(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TTCCAGGGCTCCTCCGTGTGT	0.547000													59	151					0	0	0.003610	0	0
KCTD2	23510	broad.mit.edu	37	17	73045381	73045381	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:73045381C>T	ENST00000322444.6	+	2	412	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	KCTD2_ENST00000584767.1_3'UTR|KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	136	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R136C(1)		kidney(1)|lung(2)	3	all_lung(278;0.226)					CAACTACCTCCGCCACGGGAA	0.468000													8	84					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179432140	179432140	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:179432140C>A	ENST00000589042.1	-	326	78943	c.78719G>T	c.(78718-78720)tGt>tTt	p.C26240F	TTN_ENST00000460472.2_Missense_Mutation_p.C17175F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C23672F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C17300F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C17367F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C24599F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24599	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C17367F(1)|p.C23672F(1)|p.C23670F(1)|p.C17175F(1)|p.C17300F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTATTTCACATCTAGCAGA	0.388000													61	159					4.32865e-36	6.0672e-36	0.003610	1	0
USP7	7874	broad.mit.edu	37	16	8993490	8993490	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:8993490T>A	ENST00000344836.4	-	22	2632	c.2434A>T	c.(2434-2436)Acg>Tcg	p.T812S	USP7_ENST00000381886.4_Missense_Mutation_p.T796S|USP7_ENST00000535863.1_Missense_Mutation_p.T713S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	812					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T812S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTGATAACGTAACCACAAAT	0.363000													37	79					0	0	0.005524	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802316	109802316	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:109802316T>C	ENST00000230122.3	-	2	1081	c.914A>G	c.(913-915)tAc>tGc	p.Y305C		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Y305C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AAAGTGATTGTACTTAAAGAC	0.473000													46	103					0	0	0.003610	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848037	48848037	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:48848037G>T	ENST00000394754.1	+	4	2295	c.2181G>T	c.(2179-2181)cgG>cgT	p.R727R	STON1-GTF2A1L_ENST00000405008.1_Silent_p.R727R|GTF2A1L_ENST00000403751.3_Silent_p.R23R|STON1-GTF2A1L_ENST00000402114.2_Silent_p.R727R|STON1-GTF2A1L_ENST00000394751.3_Silent_p.R727R|STON1-GTF2A1L_ENST00000309827.2_Silent_p.R727R|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		727					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R727R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGGAGTTCGGAATCTATTTG	0.289000													13	44					0.00316338	0.00353554	0.003163	1	0
PRDM2	7799	broad.mit.edu	37	1	14142945	14142945	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:14142945G>A	ENST00000235372.7	+	9	5916	c.5060G>A	c.(5059-5061)cGa>cAa	p.R1687Q	PRDM2_ENST00000376048.5_Missense_Mutation_p.D179N|PRDM2_ENST00000503842.1_Missense_Mutation_p.D15N|PRDM2_ENST00000505823.1_Missense_Mutation_p.D15N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1687						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1687Q(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTGGCGTCCCGATGCTCTCCA	0.587000													19	38					0	0	0.001882	0	0
STRC	161497	broad.mit.edu	37	15	43892287	43892287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:43892287G>A	ENST00000450892.2	-	28	5187	c.5110C>T	c.(5110-5112)Caa>Taa	p.Q1704*	STRC_ENST00000541030.1_Nonsense_Mutation_p.Q931*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1704					sensory perception of sound	cell surface		p.Q1704*(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTAGATAGTTGGATGGGACTA	0.557000													17	35					0	0	0.007413	0	0
PRB3	5544	broad.mit.edu	37	12	11420396	11420396	+	RNA	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:11420396G>T	ENST00000381842.3	-	0	698				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.R221S(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTGGACGAGGTGGGGGA	0.592000													114	332					7.48799e-53	1.06704e-52	0.003610	1	0
GPRASP2	114928	broad.mit.edu	37	X	101969872	101969872	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:101969872G>A	ENST00000543253.1	+	5	994	c.75G>A	c.(73-75)ggG>ggA	p.G25G	GPRASP2_ENST00000535209.1_Silent_p.G25G|GPRASP2_ENST00000332262.5_Silent_p.G25G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.G25G(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTATCGCTGGGCCTGAGAGAG	0.542000													46	100					0	0	0.002522	0	0
CHST12	55501	broad.mit.edu	37	7	2473023	2473023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:2473023G>A	ENST00000258711.6	+	2	884	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	250					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.R250H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCCTTCGTGCGCCTGATCTCC	0.602000													11	65					0	0	0.001368	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	56					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	66					0	0	0.001984	0	0
KEAP1	9817	broad.mit.edu	37	19	10610285	10610285	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:10610285G>A	ENST00000171111.5	-	2	972	c.425C>T	c.(424-426)aCg>aTg	p.T142M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T142M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	142	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.T142M(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GATGGAGGCCGTGTAGGCGAA	0.587000													17	22					0	0	0.004990	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769002	31769002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:31769002G>T	ENST00000240587.4	-	2	2024	c.1697C>A	c.(1696-1698)tCg>tAg	p.S566*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	566					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S566*(1)|p.S383*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCCCGACGAGCCCAGGGA	0.587000													38	56					1.67305e-13	2.25269e-13	0.006230	1	0
NPLOC4	55666	broad.mit.edu	37	17	79580446	79580446	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:79580446G>A	ENST00000374747.5	-	4	413	c.284C>T	c.(283-285)cCg>cTg	p.P95L	NPLOC4_ENST00000331134.6_Missense_Mutation_p.P95L|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	95					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	p.P95L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTTGAAGCCCGGTGGAACTGA	0.517000													33	29					0	0	0.003271	0	0
AR	367	broad.mit.edu	37	X	66863200	66863200	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:66863200A>T	ENST00000374690.3	+	2	2243	c.1719A>T	c.(1717-1719)ggA>ggT	p.G573G	AR_ENST00000396044.3_Silent_p.G573G|AR_ENST00000504326.1_Silent_p.G573G|AR_ENST00000396043.2_Silent_p.G41G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	572	Interaction with HIPK3 (By similarity).		A -> D (in AIS; defective DNA binding and transactivation).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.G573G(1)|p.G383G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GTCACTATGGAGCTCTCACAT	0.493000									Androgen Insensitivity Syndrome				21	57					0	0	0.001523	0	0
RP1L1	94137	broad.mit.edu	37	8	10470626	10470626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr8:10470626G>A	ENST00000382483.3	-	4	1205	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	328					intracellular signal transduction			p.R328C(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGTGGAAGCGGACTTTCATC	0.657000													31	52					0	0	0.001786	0	0
AMICA1	120425	broad.mit.edu	37	11	118081271	118081271	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:118081271G>A	ENST00000292067.7	-	3	766	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	AMICA1_ENST00000526620.1_Missense_Mutation_p.R80C|AMICA1_ENST00000356289.5_Missense_Mutation_p.R119C|AMICA1_ENST00000533261.1_Missense_Mutation_p.R119C	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	119	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.R109C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTTTGAGGCGGATTTCACAG	0.522000													28	88					0	0	0.008361	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696766	153696766	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:153696766G>A	ENST00000369682.3	+	23	4259	c.4084G>A	c.(4084-4086)Ggc>Agc	p.G1362S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1362					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.G1362S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCGACCGCGGCACCGTGGC	0.667000													6	34					0	0	0.001168	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127332	45127332	+	RNA	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:45127332G>A	ENST00000575173.1	-	0	418																											ACTCGCTCCCGCATGACCCAC	0.418000													5	216					0	0	0.001168	0	0
MN1	4330	broad.mit.edu	37	22	28194109	28194109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr22:28194109C>G	ENST00000302326.4	-	1	3377	c.2423G>C	c.(2422-2424)gGc>gCc	p.G808A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	808							binding	p.G808A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTGAAGGAGCCCAGCGAGAG	0.677000			T	ETV6	"""AML, meningioma"""								22	39					0	0	0.001523	0	0
LRRC66	339977	broad.mit.edu	37	4	52861066	52861066	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:52861066C>A	ENST00000343457.3	-	4	2128	c.2122G>T	c.(2122-2124)Ggg>Tgg	p.G708W		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	708						integral to membrane		p.E707_G708>DW(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AACAGAGACCCCTCATCAGAG	0.532000													31	61					1.80694e-10	2.30588e-10	0.001786	1	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26240191	26240191	+	Splice_Site	SNP	C	C	A	rs112694138		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:26240191C>A	ENST00000354667.4	-	1	175		c.e1+1		HNRNPA2B1_ENST00000356674.7_Splice_Site	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.?(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AAACCCGTTACCTCCATCGCG	0.607000			T	ETV1	prostate								18	133					8.34094e-07	9.90486e-07	0.008871	1	0
DDO	8528	broad.mit.edu	37	6	110714107	110714107	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:110714107A>T	ENST00000368924.3	-	5	996	c.981T>A	c.(979-981)ccT>ccA	p.P327P	DDO_ENST00000368923.3_Silent_p.P268P|DDO_ENST00000368925.1_Silent_p.P299P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	299					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.P327P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGTGGACTACAGGCAGCCTCT	0.637000													28	35					0	0	0.004656	0	0
TPCN1	53373	broad.mit.edu	37	12	113717996	113717996	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:113717996C>T	ENST00000550785.1	+	16	1723	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	TPCN1_ENST00000335509.6_Silent_p.F446F|TPCN1_ENST00000392569.4_Silent_p.F378F|TPCN1_ENST00000541517.1_Silent_p.F518F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	446						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F446F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCAGTATTTCATGTGTAAGT	0.423000													13	49					0	0	0.001855	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821249	5821249	+	Silent	SNP	A	A	G	rs9785509		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:5821249A>G	ENST00000381095.3	-	5	2097	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	NLGN4X_ENST00000538097.1_Silent_p.G490G|NLGN4X_ENST00000381093.2_Silent_p.G510G|NLGN4X_ENST00000275857.6_Silent_p.G490G|NLGN4X_ENST00000381092.1_Silent_p.G490G	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	490					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.G490G(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGACCTCATCACCATGGGCCG	0.567000													24	38					0	0	0.003271	0	0
LSM14A	26065	broad.mit.edu	37	19	34712504	34712504	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:34712504G>A	ENST00000544216.3	+	9	1306	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	LSM14A_ENST00000540746.2_Missense_Mutation_p.R369K|LSM14A_ENST00000433627.5_Missense_Mutation_p.R410K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	410					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R410K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GGGGGATACAGAGGCAGAGGA	0.537000													12	32					0	0	0.001855	0	0
KCNK10	54207	broad.mit.edu	37	14	88693778	88693778	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:88693778C>G	ENST00000340700.5	-	4	1058	c.607G>C	c.(607-609)Gga>Cga	p.G203R	KCNK10_ENST00000312350.5_Missense_Mutation_p.G208R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G208R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	203					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G208R(2)|p.G203R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGTTGGTCTCCAATTCCAGCC	0.403000													49	136					0	0	0.003610	0	0
SLC35E2B	728661	broad.mit.edu	37	1	1599899	1599899	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:1599899T>C	ENST00000378662.1	-	9	1607	c.847A>G	c.(847-849)Atc>Gtc	p.I283V	SLC35E2B_ENST00000234800.6_Missense_Mutation_p.I283V			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	283						integral to membrane		p.I283V(2)		kidney(1)|lung(1)	2						CTCCTCCCGATCACTGGGACG	0.542000													14	69					0	0	0.008871	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32915726	32915726	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:32915726C>G	ENST00000361627.3	+	3	956	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	78	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.D78E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTTTAGAAGACCATATTCATA	0.373000													17	93					0	0	0.001523	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179358664	179358664	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:179358664C>T	ENST00000234453.4	+	4	800	c.398C>T	c.(397-399)aCa>aTa	p.T133I	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	133						cytoplasm|membrane		p.T133I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAAGTTCATACAATACAGGAA	0.403000													8	68					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25485066	25485066	+	RNA	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:25485066C>T	ENST00000453082.2	+	0	1979				SNORD115-38_ENST00000365037.1_RNA	NR_003343.1																						CGCTGAGGCCCAGCCTAGGTG	0.512000													45	333					0	0	0.002522	0	0
RBM44	375316	broad.mit.edu	37	2	238729761	238729761	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:238729761T>C	ENST00000316997.4	+	6	2096	c.1964T>C	c.(1963-1965)cTg>cCg	p.L655P	RBM44_ENST00000409864.1_Missense_Mutation_p.L655P	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	654							nucleotide binding|RNA binding	p.L655P(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TCAGCACTACTGTCTCTTTTG	0.378000													16	30					0	0	0.004990	0	0
EPPK1	83481	broad.mit.edu	37	8	144940513	144940513	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr8:144940513G>A	ENST00000525985.1	-	2	6980	c.6909C>T	c.(6907-6909)gcC>gcT	p.A2303A				P58107	EPIPL_HUMAN	epiplakin 1	2303						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.A2303A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCGCGCTCGGCCGACAGCA	0.692000													22	241					0	0	0.001523	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604663	13604663	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:13604663C>T	ENST00000040738.5	-	10	3996	c.3861G>A	c.(3859-3861)gtG>gtA	p.V1287V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1287							DNA binding	p.V1287V(1)									GCACAACAGTCACTGAACTTA	0.448000													17	37					0	0	0.004007	0	0
CCL8	6355	broad.mit.edu	37	17	32646553	32646553	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:32646553G>T	ENST00000394620.1	+	1	499	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	11					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	p.L11L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGTGCCTGCTGCTCATGGCAG	0.512000													13	51					3.45872e-05	3.9694e-05	0.004007	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904436	144904436	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:144904436C>T	ENST00000370490.1	+	1	4748	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SLITRK2_ENST00000428560.2_Silent_p.L165L|SLITRK2_ENST00000447897.2_Silent_p.L165L|SLITRK2_ENST00000434188.2_Silent_p.L165L|SLITRK2_ENST00000413937.2_Silent_p.L165L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	165						integral to membrane		p.L165L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCTCATCCTGAATGACAA	0.502000													45	143					0	0	0.003214	0	0
SCN1A	6323	broad.mit.edu	37	2	166900385	166900385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:166900385G>A	ENST00000423058.2	-	11	1854	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R613*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R613*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R613*(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTCCGTGTCGTCGGGGCACA	0.542000													12	57					0	0	0.000978	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	37					0	0	0.000248	0	0
LTBP1	4052	broad.mit.edu	37	2	33359878	33359878	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:33359878G>A	ENST00000404816.2	+	5	1405	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	LTBP1_ENST00000390003.4_Missense_Mutation_p.R25H|LTBP1_ENST00000407925.1_Missense_Mutation_p.R25H|LTBP1_ENST00000354476.3_Missense_Mutation_p.R351H|LTBP1_ENST00000418533.2_Missense_Mutation_p.R25H|LTBP1_ENST00000404525.1_Missense_Mutation_p.R25H|LTBP1_ENST00000402934.1_Missense_Mutation_p.R25H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	351					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.R351H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACACTGGCCGCATCAAGGTG	0.478000													4	141					0	0	0.000602	0	0
INADL	10207	broad.mit.edu	37	1	62349930	62349930	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:62349930A>G	ENST00000371158.2	+	22	3095	c.2981A>G	c.(2980-2982)cAa>cGa	p.Q994R	INADL_ENST00000316485.6_Missense_Mutation_p.Q994R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	994					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Q994R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AATGATGTCCAAGGTCCTAGC	0.458000													56	130					0	0	0.003610	0	0
KCNK2	3776	broad.mit.edu	37	1	215342563	215342563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:215342563G>T	ENST00000444842.2	+	4	647	c.497G>T	c.(496-498)cGc>cTc	p.R166L	KCNK2_ENST00000391895.2_Missense_Mutation_p.R162L|KCNK2_ENST00000391894.2_Missense_Mutation_p.R151L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	166							outward rectifier potassium channel activity	p.R166L(1)|p.R151L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATCTCACCACGCACAGAAGGC	0.368000													33	92					8.73648e-17	1.19515e-16	0.004289	1	0
TP53	7157	broad.mit.edu	37	17	7578536	7578536	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:7578536T>C	ENST00000420246.2	-	5	526	c.394A>G	c.(394-396)Aag>Gag	p.K132E	TP53_ENST00000455263.2_Missense_Mutation_p.K132E|TP53_ENST00000269305.4_Missense_Mutation_p.K132E|TP53_ENST00000413465.2_Missense_Mutation_p.K132E|TP53_ENST00000445888.2_Missense_Mutation_p.K132E|TP53_ENST00000359597.4_Missense_Mutation_p.K132E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132E(20)|p.K132Q(13)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K132*(3)|p.N131fs*27(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.L130fs*16(1)|p.K132W(1)|p.K39E(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAAACATCTTGTTGAGGGCA	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	15					0	0	0.004482	0	0
KLK7	5650	broad.mit.edu	37	19	51483661	51483661	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:51483661G>C	ENST00000391807.1	-	4	405	c.304C>G	c.(304-306)Ccc>Gcc	p.P102A	KLK7_ENST00000595820.1_Missense_Mutation_p.P102A|KLK7_ENST00000597707.1_Missense_Mutation_p.P30A|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_5'UTR	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	102	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.P102A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GAGTAGCCGGGGTGGCGGAAT	0.572000													17	22					0	0	0.004990	0	0
EXT2	2132	broad.mit.edu	37	11	44135768	44135768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:44135768G>T	ENST00000395673.3	+	4	815	c.759G>T	c.(757-759)tgG>tgT	p.W253C	EXT2_ENST00000533608.1_Missense_Mutation_p.W220C|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000358681.4_Missense_Mutation_p.W220C|EXT2_ENST00000343631.3_Missense_Mutation_p.W220C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	220					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.W220C(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTTCTACGTGGACTTACCGGC	0.473000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				43	116					3.43241e-23	4.77189e-23	0.002222	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328860	88328860	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr13:88328860C>T	ENST00000325089.6	+	2	1436	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P165L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	406	LRRNT.					integral to membrane		p.P406L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAACTGCAGCCCAAGCCCTAC	0.567000													14	32					0	0	0.001855	0	0
OR10P1	121130	broad.mit.edu	37	12	56031203	56031203	+	Silent	SNP	G	G	T	rs147317388	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:56031203G>T	ENST00000309675.2	+	1	560	c.528G>T	c.(526-528)ccG>ccT	p.P176P		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P176P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CGATCATCCCGCACTTTCTCT	0.562000													20	100					1.01871e-10	1.3197e-10	0.008871	1	0
CD37	951	broad.mit.edu	37	19	49843570	49843570	+	Silent	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:49843570C>A	ENST00000323906.4	+	8	972	c.831C>A	c.(829-831)ctC>ctA	p.L277L	CD37_ENST00000426897.2_Silent_p.L209L	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	277						integral to membrane		p.L277L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		ACAACCGGCTCGCTCGATACC	0.577000													20	24					1.22574e-08	1.51885e-08	0.002299	1	0
LRRC66	339977	broad.mit.edu	37	4	52861067	52861067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:52861067C>A	ENST00000343457.3	-	4	2127	c.2121G>T	c.(2119-2121)gaG>gaT	p.E707D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	707						integral to membrane		p.E707_G708>DW(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACAGAGACCCCTCATCAGAGT	0.527000													30	63					1.13719e-10	1.4621e-10	0.008361	1	0
ROBO4	54538	broad.mit.edu	37	11	124756661	124756661	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:124756661G>A	ENST00000306534.3	-	16	2978	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	ROBO4_ENST00000533054.1_Silent_p.I686I|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	831					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.I831I(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TTGGGACGCTGATGTACCCAT	0.622000													26	43					0	0	0.005443	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220345342	220345342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:220345342C>A	ENST00000358951.2	-	23	2582	c.2466G>T	c.(2464-2466)caG>caT	p.Q822H		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	822					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.Q822H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGCGCATCTGCTGCCACCATG	0.468000													20	41					1.33834e-09	1.67048e-09	0.007413	1	0
FIGN	55137	broad.mit.edu	37	2	164466086	164466086	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:164466086G>T	ENST00000333129.3	-	3	2570	c.2256C>A	c.(2254-2256)aaC>aaA	p.N752K	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	752						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.N752K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAAACATTTTGTTCCATTCAA	0.378000													8	62					0.000157383	0.000178229	0.003080	1	0
ATP7A	538	broad.mit.edu	37	X	77286941	77286941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:77286941G>T	ENST00000341514.6	+	16	3310	c.3155G>T	c.(3154-3156)gGa>gTa	p.G1052V	ATP7A_ENST00000350425.4_Missense_Mutation_p.G55V|ATP7A_ENST00000343533.5_Missense_Mutation_p.G974V	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.G1052V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTACTCACGGAACCCCAGTG	0.378000													91	197					1.78623e-52	2.52434e-52	0.003610	1	0
KIAA1324	57535	broad.mit.edu	37	1	109707159	109707159	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:109707159G>T	ENST00000369939.3	+	3	496	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	KIAA1324_ENST00000529753.1_Missense_Mutation_p.D105Y	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	105					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.D105Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGATATGAAGGACCAGTCATG	0.587000													36	114					6.97489e-18	9.61859e-18	0.004878	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	81					0	0	0.003080	0	0
STK11	6794	broad.mit.edu	37	19	1220685	1220685	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:1220685A>T	ENST00000326873.7	+	5	1876	c.703A>T	c.(703-705)Aag>Tag	p.K235*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	235	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.K235*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGCTTCAAGGTGGACAT	0.697000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			12	17					0	0	0.000978	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352570	51352570	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:51352570G>C	ENST00000337334.2	+	7	634	c.619G>C	c.(619-621)Ggc>Cgc	p.G207R	ABHD12B_ENST00000395752.1_Missense_Mutation_p.G100R|ABHD12B_ENST00000353130.1_Missense_Mutation_p.G130R|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	207							hydrolase activity	p.G207R(1)|p.G130R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGCAAGAAGTGGCATCACTCC	0.522000													47	124					0	0	0.003214	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Silent	SNP	C	C	A	rs144099662	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:168726189C>A	ENST00000305861.1	+	2	991	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	B3GALT1_ENST00000392690.2_Silent_p.R214R|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000													9	75					7.48243e-07	8.94752e-07	0.006214	1	0
KCNA6	3742	broad.mit.edu	37	12	4920464	4920464	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:4920464A>T	ENST00000433855.1	+	1	2123	c.1257A>T	c.(1255-1257)acA>acT	p.T419T	KCNA6_ENST00000280684.3_Silent_p.T419T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T419T(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CAGTGGTTACAATGACCACGG	0.587000										HNSCC(72;0.22)			21	79					0	0	0.001882	0	0
MED12	9968	broad.mit.edu	37	X	70354597	70354597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:70354597G>A	ENST00000333646.6	+	35	4961	c.4762G>A	c.(4762-4764)Gtg>Atg	p.V1588M	MED12_ENST00000374102.1_Missense_Mutation_p.V1588M|MED12_ENST00000374080.3_Missense_Mutation_p.V1588M|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1588					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.V1588M(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATGCTGAGCGTGCTCATCAA	0.483000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						36	137					0	0	0.004289	0	0
COL13A1	1305	broad.mit.edu	37	10	71716763	71716763	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr10:71716763G>A	ENST00000356340.3	+	38	2652	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.706_706insK	COL13A1_ENST00000520133.1_Missense_Mutation_p.599_599insK|COL13A1_ENST00000398966.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000398968.3_Missense_Mutation_p.687_687insK|COL13A1_ENST00000357811.3_Missense_Mutation_p.672_672insK|COL13A1_ENST00000398974.3_Missense_Mutation_p.694_694insK|COL13A1_ENST00000398978.3_Missense_Mutation_p.706_706insK|COL13A1_ENST00000522165.1_Missense_Mutation_p.675_675insK|COL13A1_ENST00000398972.3_Missense_Mutation_p.692_692insK|COL13A1_ENST00000520267.1_Missense_Mutation_p.634_634insK|COL13A1_ENST00000354547.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000398969.3_Missense_Mutation_p.634_634insK|COL13A1_ENST00000517713.1_Missense_Mutation_p.657_657insK|COL13A1_ENST00000398973.3_Missense_Mutation_p.680_680insK|COL13A1_ENST00000398971.3_Missense_Mutation_p.691_691insK|COL13A1_ENST00000398964.3_Missense_Mutation_p.677_677insK			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	0	Nonhelical region 4 (NC4).			E -> Q (in Ref. 4; AAA52047/AAA52048 and 5; AAA51987/AAA51988/AAA51989/AAA51990/ AAA51991).	cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.E706K(1)|p.E689K(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTTGCAGGGCGAAGATGGCTT	0.557000													14	36					0	0	0.004990	0	0
ARL5A	26225	broad.mit.edu	37	2	152663470	152663470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:152663470C>G	ENST00000295087.8	-	5	667	c.356G>C	c.(355-357)gGa>gCa	p.G119A	ARL5A_ENST00000428992.2_Missense_Mutation_p.G82A	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	119					small GTPase mediated signal transduction	intracellular	GTP binding	p.G119A(1)		breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		AATCAGCAATCCAGCTTTTCT	0.318000													6	53					0	0	0.004482	0	0
BAI3	577	broad.mit.edu	37	6	69640468	69640468	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:69640468G>T	ENST00000370598.1	+	4	1596	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	259					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D259Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATGATGGGAGATCATACAAT	0.368000													9	23					2.74318e-10	3.47469e-10	0.006214	1	0
MAGEB6	158809	broad.mit.edu	37	X	26211971	26211971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:26211971G>T	ENST00000379034.1	+	2	157	c.8G>T	c.(7-9)cGg>cTg	p.R3L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	3								p.R3L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCATGCCTCGGGGTCACAAG	0.572000													16	70					3.32936e-07	4.0093e-07	0.006122	1	0
RGPD4	285190	broad.mit.edu	37	2	108488692	108488692	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:108488692T>C	ENST00000408999.3	+	20	4309	c.4232T>C	c.(4231-4233)aTa>aCa	p.I1411T	RGPD4_ENST00000354986.4_Missense_Mutation_p.I1411T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1411	RanBD1 2.				intracellular transport		binding	p.I1411T(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATCACACAATAACTCCAGAC	0.358000													239	511					0	0	0.003610	0	0
CCDC113	29070	broad.mit.edu	37	16	58312467	58312467	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:58312467G>A	ENST00000219299.4	+	8	1052	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	CCDC113_ENST00000443128.2_Missense_Mutation_p.V271I	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	325						protein complex		p.V325I(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GATGACTTACGTCCGGGAGAA	0.587000													34	50					0	0	0.002836	0	0
PGR	5241	broad.mit.edu	37	11	100962496	100962496	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:100962496A>C	ENST00000325455.5	-	3	3354	c.1901T>G	c.(1900-1902)cTt>cGt	p.L634R	PGR_ENST00000263463.5_Missense_Mutation_p.L634R|PGR_ENST00000534013.1_Missense_Mutation_p.L40R	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	634					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.L634R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ATTACCTCCAAGGACCATGCC	0.363000													11	25					0	0	0.001855	0	0
CCBL1	883	broad.mit.edu	37	9	131605043	131605043	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr9:131605043C>T	ENST00000436267.2	-	5	522	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	CCBL1_ENST00000302586.3_Missense_Mutation_p.V31M|CCBL1_ENST00000320665.6_Missense_Mutation_p.V31M|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	31					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.V31M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CCCAAGTTCACGACGTCATGC	0.562000													21	23					0	0	0.002299	0	0
EPCAM	4072	broad.mit.edu	37	2	47606164	47606164	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:47606164G>A	ENST00000263735.4	+	6	986	c.628G>A	c.(628-630)Gct>Act	p.A210T	EPCAM_ENST00000405271.1_Missense_Mutation_p.A238T	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	210					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.A210T(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TGTGGACATAGCTGATGTGGC	0.294000													20	68					0	0	0.001882	0	0
NID2	22795	broad.mit.edu	37	14	52507564	52507564	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:52507564C>A	ENST00000216286.5	-	8	1830	c.1831G>T	c.(1831-1833)Gcc>Tcc	p.A611S	NID2_ENST00000541773.1_Missense_Mutation_p.A558S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	611	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.A611S(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGGTAAAGGCAGCACCTGGA	0.473000													23	89					3.62473e-10	4.55757e-10	0.001882	1	0
MIR891A	100126341	broad.mit.edu	37	X	145109318	145109318	+	RNA	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:145109318G>A	ENST00000401237.1	-	0	72					NR_030581.1																						tatctcttttgaccctcacaa	0.438000													21	57					0	0	0.003330	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931885	11931885	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:11931885G>A	ENST00000571133.1	-	9	1304	c.1232C>T	c.(1231-1233)cCa>cTa	p.P411L	RSL1D1_ENST00000542106.1_Missense_Mutation_p.P191L	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	411					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.P411L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ctcagatgctggcaaagcctt	0.448000													18	501					0	0	0.006122	0	0
GCA	25801	broad.mit.edu	37	2	163208879	163208879	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:163208879G>C	ENST00000437150.2	+	3	385	c.224G>C	c.(223-225)aGa>aCa	p.R75T	GCA_ENST00000429691.2_Missense_Mutation_p.R56T|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000233612.4_Missense_Mutation_p.R56T	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	75	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	p.R75T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						GAACTTCAGAGATGTTTGACA	0.299000													20	69					0	0	0.001882	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	79					0	0	0.003080	0	0
BRINP3	339479	broad.mit.edu	37	1	190068054	190068054	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:190068054G>T	ENST00000367462.3	-	8	1626	c.1395C>A	c.(1393-1395)acC>acA	p.T465T	FAM5C_ENST00000534846.1_Silent_p.T363T|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		465						extracellular region		p.T465T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCATGTAGCCGGTGTTGCAGG	0.597000													52	109					1.42923e-14	1.93967e-14	0.003610	1	0
AOX1	316	broad.mit.edu	37	2	201468820	201468820	+	Splice_Site	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:201468820G>T	ENST00000374700.2	+	8	910	c.669_splice	c.e8+1	p.M223_splice		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	223					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.M223I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTGAGCTAATGGTGAGTAAAG	0.403000													19	33					2.94398e-08	3.59586e-08	0.007413	1	0
RASGRP1	10125	broad.mit.edu	37	15	38791143	38791143	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000539159.1_Silent_p.C527C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468000													5	331					0	0	0.001168	0	0
DIDO1	11083	broad.mit.edu	37	20	61541330	61541330	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:61541330G>A	ENST00000266070.4	-	4	1207	c.882C>T	c.(880-882)ggC>ggT	p.G294G	DIDO1_ENST00000370366.1_Silent_p.G294G|DIDO1_ENST00000395343.1_Silent_p.G294G|DIDO1_ENST00000370371.4_Silent_p.G294G|DIDO1_ENST00000370368.1_Silent_p.G294G|DIDO1_ENST00000354665.4_Silent_p.G294G|DIDO1_ENST00000395340.1_Silent_p.G294G|DIDO1_ENST00000395335.2_Silent_p.G294G|DIDO1_ENST00000266071.5_Silent_p.G294G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	294					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G294G(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCACACAATCGCCATGAAACC	0.448000													23	35					0	0	0.003954	0	0
AGXT	189	broad.mit.edu	37	2	241812439	241812439	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:241812439G>A	ENST00000307503.3	+	5	955	c.568G>A	c.(568-570)Ggg>Agg	p.G190R		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	190			G -> R (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.G190R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATCCCTGGGCGGGACCCCCCT	0.662000													13	84					0	0	0.003163	0	0
PARD6B	84612	broad.mit.edu	37	20	49366455	49366455	+	Silent	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:49366455A>G	ENST00000371610.2	+	3	792	c.549A>G	c.(547-549)ccA>ccG	p.P183P	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	183	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	p.P183P(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GGGTAACACCACATGGCTTAG	0.473000													22	41					0	0	0.001882	0	0
TPCN1	53373	broad.mit.edu	37	12	113710467	113710467	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:113710467C>T	ENST00000550785.1	+	9	1138	c.969C>T	c.(967-969)ttC>ttT	p.F323F	TPCN1_ENST00000335509.6_Silent_p.F251F|TPCN1_ENST00000392569.4_Silent_p.F183F|TPCN1_ENST00000541517.1_Silent_p.F323F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	251						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F251F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCTAGGTTTCTACTTGTTCT	0.468000													131	251					0	0	0.003610	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26199202	26199202	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:26199202G>A	ENST00000377831.5	-	0	319				HIST1H2AD_ENST00000341023.1_Silent_p.N90N	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d						blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.N90N(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCTCCTCGTCGTTGCGGATGG	0.597000													24	132					0	0	0.005443	0	0
TH	7054	broad.mit.edu	37	11	2189322	2189322	+	Splice_Site	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:2189322G>T	ENST00000381178.1	-	5	686	c.669_splice	c.e5+1	p.P223_splice	TH_ENST00000381175.1_Splice_Site_p.P219_splice|TH_ENST00000352909.3_Splice_Site_p.P192_splice|TH_ENST00000333684.5_Splice_Site_p.P196_splice	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	223					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.P223Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACCACTCACCGGGTGGTCCAA	0.597000													10	52					0.000442599	0.000497924	0.006214	1	0
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453000													3	77					0	0	0.000602	0	0
ZNF521	25925	broad.mit.edu	37	18	22804462	22804462	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr18:22804462G>A	ENST00000361524.3	-	4	3568	c.3420C>T	c.(3418-3420)tgC>tgT	p.C1140C	ZNF521_ENST00000584787.1_Silent_p.C920C|ZNF521_ENST00000538137.2_Silent_p.C1140C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1140					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S1141T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCAGCTAGAGCAGCGTGTCT	0.532000			T	PAX5	ALL								26	44					0	0	0.003954	0	0
JAG2	3714	broad.mit.edu	37	14	105609331	105609331	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:105609331G>A	ENST00000331782.3	-	26	3821	c.3418C>T	c.(3418-3420)Cgg>Tgg	p.R1140W	JAG2_ENST00000347004.2_Missense_Mutation_p.R1102W	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1140					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.R1140W(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCCCCGGCCGCTCAATGGGG	0.731000													15	24					0	0	0.004007	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154716	23154716	+	RNA	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr22:23154716G>T	ENST00000390315.2	+	0	320																											CTATCAGTGGGGCCCAGGTGG	0.532000													14	41					1.5842e-08	1.94891e-08	0.001855	1	0
ZNF521	25925	broad.mit.edu	37	18	22804461	22804461	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr18:22804461A>T	ENST00000361524.3	-	4	3569	c.3421T>A	c.(3421-3423)Tct>Act	p.S1141T	ZNF521_ENST00000584787.1_Missense_Mutation_p.S921T|ZNF521_ENST00000538137.2_Missense_Mutation_p.S1141T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1141					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S1141T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGCAGCTAGAGCAGCGTGTC	0.532000			T	PAX5	ALL								25	45					0	0	0.003330	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789746	6789746	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:6789746G>C	ENST00000338569.2	-	1	540	c.443C>G	c.(442-444)tCc>tGc	p.S148C		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S148C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGGATCCAGGATGTGGCCAC	0.507000													12	56					0	0	0.001368	0	0
EPHA5	2044	broad.mit.edu	37	4	66201731	66201731	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:66201731T>G	ENST00000273854.3	-	16	3371	c.2771A>C	c.(2770-2772)aAg>aCg	p.K924T	EPHA5_ENST00000432638.2_Missense_Mutation_p.K761T|EPHA5_ENST00000354839.4_Missense_Mutation_p.K902T|EPHA5_ENST00000511294.1_Missense_Mutation_p.K925T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	924	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.K924T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTCATCAAACTTGGGCCTGCT	0.488000										TSP Lung(17;0.13)			14	76					0	0	0.002450	0	0
NUP88	4927	broad.mit.edu	37	17	5317415	5317415	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:5317415G>A	ENST00000573584.1	-	3	1016	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	169					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	p.T169T(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GAGTCAGAGAGGTGGAACTGG	0.368000													14	12					0	0	0.001855	0	0
RBM11	54033	broad.mit.edu	37	21	15596757	15596757	+	Splice_Site	SNP	A	A	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr21:15596757A>C	ENST00000400577.3	+	4	341		c.e4-1		RBM11_ENST00000468643.1_Splice_Site	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11								nucleotide binding|RNA binding	p.?(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATCTCCTCAAAGGAATGAAGA	0.323000													2	1					0	0	0.004672	0	0
CSMD3	114788	broad.mit.edu	37	8	113694836	113694836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr8:113694836C>A	ENST00000297405.5	-	16	2756	c.2512G>T	c.(2512-2514)Gga>Tga	p.G838*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G798*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G734*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G838*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	838	Sushi 4.					integral to membrane|plasma membrane		p.G838*(1)|p.G798*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGGTATTCCAGGATCAGGG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	68					1.17739e-12	1.74468e-12	0.005443	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	15					0	0	0.000248	0	0
DIP2B	57609	broad.mit.edu	37	12	51065071	51065071	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:51065071G>A	ENST00000301180.5	+	5	564	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	177	Ser-rich.					nucleus	catalytic activity|transcription factor binding	p.R177H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGATCAACCGTTCAATTCAG	0.527000													17	112					0	0	0.004007	0	0
ACTR3B	57180	broad.mit.edu	37	7	152549330	152549330	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:152549330G>A	ENST00000256001.8	+	10	1205	c.1071G>A	c.(1069-1071)agG>agA	p.R357R	ACTR3B_ENST00000537264.1_Silent_p.R269R|ACTR3B_ENST00000397282.2_Silent_p.R269R|ACTR3B_ENST00000377776.3_Intron	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	357					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	p.R357R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GCGGCGGGAGGATCAAGGTAG	0.637000													12	38					0	0	0.001368	0	0
DBT	1629	broad.mit.edu	37	1	100676288	100676288	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:100676288C>A	ENST00000370132.3	-	8	992	c.979G>T	c.(979-981)Gct>Tct	p.A327S	DBT_ENST00000370131.3_3'UTR	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	327					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.A327T(1)|p.A327S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCACAGAAGCGTTAAGGATA	0.338000													20	75					1.50039e-11	2.1836e-11	0.001882	1	0
HTR2C	3358	broad.mit.edu	37	X	113965913	113965913	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:113965913G>T	ENST00000276198.1	+	4	974	c.246G>T	c.(244-246)aaG>aaT	p.K82N	HTR2C_ENST00000371951.1_Missense_Mutation_p.K82N|HTR2C_ENST00000371950.3_Missense_Mutation_p.K82N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	82					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GCATGGAAAAGAAACTGCACA	0.448000													4	118					2.56e-06	3.18534e-06	0.000248	1	0
GABRR1	2569	broad.mit.edu	37	6	89888768	89888768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr6:89888768G>T	ENST00000435811.1	-	9	1564	c.1110C>A	c.(1108-1110)agC>agA	p.S370R	GABRR1_ENST00000454853.2_Missense_Mutation_p.S387R|GABRR1_ENST00000369451.3_Missense_Mutation_p.S300R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	387					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.S381R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GAGGTAATCCGCTGGTGCAGG	0.542000													11	21					1.08611e-07	1.42771e-07	0.000978	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32915726	32915726	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:32915726C>G	ENST00000361627.3	+	3	956	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000565905.1_5'UTR	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	78	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.D78E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTTTAGAAGACCATATTCATA	0.373000													17	93					0	0	0.001523	0	0
LRP1B	53353	broad.mit.edu	37	2	141709451	141709451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:141709451G>T	ENST00000389484.3	-	19	3917	c.2946C>A	c.(2944-2946)agC>agA	p.S982R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	982	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S982R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATTTGCTGCTAATGCATC	0.443000										TSP Lung(27;0.18)			20	31					7.92952e-12	1.16443e-11	0.003954	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140616088	140616088	+	RNA	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr5:140616088C>A	ENST00000526308.1	+	0	2151					NR_001281.1													p.A601A(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCGCTCGGCCACCGCCACGC	0.716000													4	38					1.23904e-05	1.51852e-05	0.000602	1	0
PKD1L1	168507	broad.mit.edu	37	7	47894610	47894610	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:47894610C>A	ENST00000289672.2	-	30	4779	c.4729G>T	c.(4729-4731)Gta>Tta	p.V1577L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1577					cell-cell adhesion	integral to membrane		p.V1577L(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGAAGTAATACAAATGTCGTT	0.348000													18	60					5.01169e-05	6.00666e-05	0.004990	1	0
ZNF254	9534	broad.mit.edu	37	19	24310436	24310436	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr19:24310436C>G	ENST00000357002.4	+	4	1749	c.1634C>G	c.(1633-1635)cCc>cGc	p.P545R	ZNF254_ENST00000342944.6_Missense_Mutation_p.P460R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	545					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P545R(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAAGAGAAACCCTACAAATGT	0.363000													13	26					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179614601	179614601	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:179614601T>A	ENST00000360870.5	-	46	12748	c.12526A>T	c.(12526-12528)Atc>Ttc	p.I4176F	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3520							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGAATGATGGAATCCCCT	0.373000													22	45					0	0	0.001882	0	0
SNX24	28966	broad.mit.edu	37	5	122281813	122281813	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr5:122281813G>A	ENST00000261369.4	+	3	393	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	SNX24_ENST00000395451.4_Missense_Mutation_p.V103I|SNX24_ENST00000513881.1_Missense_Mutation_p.V70I|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.V70I	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	70	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.V70I(1)		lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GGTCCCCAAAGTCTTGGAACA	0.323000													7	41					0	0	0.004482	0	0
UNC13C	440279	broad.mit.edu	37	15	54793103	54793103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:54793103G>A	ENST00000545554.1	+	21	5228	c.5228G>A	c.(5227-5229)aGc>aAc	p.S1743N	UNC13C_ENST00000260323.11_Missense_Mutation_p.S1743N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1741N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1743	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1743N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAATCAGAGCTTTGAAATT	0.408000													13	100					0	0	0.002450	0	0
TCF4	6925	broad.mit.edu	37	18	52901847	52901847	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr18:52901847G>T	ENST00000354452.3	-	16	2029	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q	TCF4_ENST00000561831.3_Missense_Mutation_p.P313Q|TCF4_ENST00000564403.2_Missense_Mutation_p.P479Q|TCF4_ENST00000457482.3_Missense_Mutation_p.P313Q|TCF4_ENST00000398339.1_Missense_Mutation_p.P575Q|TCF4_ENST00000568673.1_Missense_Mutation_p.P449Q|TCF4_ENST00000567880.1_Missense_Mutation_p.P413Q|TCF4_ENST00000537856.3_Missense_Mutation_p.P343Q|TCF4_ENST00000561992.1_Missense_Mutation_p.P343Q|TCF4_ENST00000544241.2_Missense_Mutation_p.P402Q|TCF4_ENST00000570287.2_Missense_Mutation_p.P313Q|TCF4_ENST00000568740.1_Missense_Mutation_p.P448Q|TCF4_ENST00000540999.1_Missense_Mutation_p.P449Q|TCF4_ENST00000537578.1_Missense_Mutation_p.P449Q|TCF4_ENST00000566279.1_Missense_Mutation_p.P413Q|TCF4_ENST00000356073.4_Missense_Mutation_p.P473Q|TCF4_ENST00000564228.1_Missense_Mutation_p.P402Q|TCF4_ENST00000570177.2_Missense_Mutation_p.P343Q|TCF4_ENST00000543082.1_Missense_Mutation_p.P431Q|TCF4_ENST00000566286.1_Missense_Mutation_p.P470Q|TCF4_ENST00000564999.1_Missense_Mutation_p.P473Q|TCF4_ENST00000565018.2_Missense_Mutation_p.P473Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	473					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.P575Q(1)|p.P473Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTGTGGAACCGGAACCTGGTT	0.597000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	60					1.01871e-10	1.45658e-10	0.008871	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554370	140554370	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr5:140554370C>T	ENST00000231137.3	+	1	2128	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		652	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R652C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCCTCCGCGCTCGGCCAC	0.711000													7	38					0	0	0.008291	0	0
SLC41A1	254428	broad.mit.edu	37	1	205760707	205760707	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:205760707T>A	ENST00000367137.3	-	11	2510	c.1496A>T	c.(1495-1497)cAt>cTt	p.H499L	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	499						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	p.H499L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCAGAGAACATGGAAGCTGAG	0.552000											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	37					0	0	0.000248	0	0
UBR4	23352	broad.mit.edu	37	1	19448475	19448475	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:19448475G>A	ENST00000375267.2	-	67	9851	c.9848C>T	c.(9847-9849)gCc>gTc	p.A3283V	UBR4_ENST00000375226.2_Missense_Mutation_p.A3259V|UBR4_ENST00000375254.3_Missense_Mutation_p.A3283V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3276V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3283					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.A3283V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCGCTGGGCGGCAATCTCTGC	0.478000													3	30					0	0	0.004672	0	0
POM121L12	285877	broad.mit.edu	37	7	53103855	53103855	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:53103855C>A	ENST00000408890.4	+	1	507	c.491C>A	c.(490-492)cCc>cAc	p.P164H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	164								p.P164H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						gcaggccgccccgccgcccAG	0.731000													11	13					4.68919e-08	6.21413e-08	0.008291	1	0
GPR137B	7107	broad.mit.edu	37	1	236343183	236343183	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:236343183C>T	ENST00000366592.3	+	4	783	c.692C>T	c.(691-693)tCc>tTc	p.S231F	GPR137B_ENST00000366591.4_Missense_Mutation_p.S140F	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	231						integral to plasma membrane|membrane fraction		p.S231F(1)|p.S140F(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TTCCAGGGCTCCTCCGTGTGT	0.547000													59	151					0	0	0.003610	0	0
KCTD2	23510	broad.mit.edu	37	17	73045381	73045381	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr17:73045381C>T	ENST00000322444.6	+	2	412	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	KCTD2_ENST00000581589.1_5'UTR|KCTD2_ENST00000584767.1_3'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	136	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R136C(1)		kidney(1)|lung(2)	3	all_lung(278;0.226)					CAACTACCTCCGCCACGGGAA	0.468000													8	84					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179432140	179432140	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:179432140C>A	ENST00000589042.1	-	326	78943	c.78719G>T	c.(78718-78720)tGt>tTt	p.C26240F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C24599F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C17300F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C17367F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C23672F|TTN_ENST00000460472.2_Missense_Mutation_p.C17175F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24599	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C17367F(1)|p.C23672F(1)|p.C23670F(1)|p.C17175F(1)|p.C17300F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTATTTCACATCTAGCAGA	0.388000													61	159					4.32865e-36	6.78432e-36	0.003610	1	0
USP7	7874	broad.mit.edu	37	16	8993490	8993490	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr16:8993490T>A	ENST00000344836.4	-	22	2632	c.2434A>T	c.(2434-2436)Acg>Tcg	p.T812S	USP7_ENST00000535863.1_Missense_Mutation_p.T713S|USP7_ENST00000381886.4_Missense_Mutation_p.T796S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	812					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T812S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTGATAACGTAACCACAAAT	0.363000													37	79					0	0	0.005524	0	0
MN1	4330	broad.mit.edu	37	22	28194109	28194109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr22:28194109C>G	ENST00000302326.4	-	1	3377	c.2423G>C	c.(2422-2424)gGc>gCc	p.G808A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	808							binding	p.G808A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTGAAGGAGCCCAGCGAGAG	0.677000			T	ETV6	"""AML, meningioma"""								22	39					0	0	0.001523	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802316	109802316	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr6:109802316T>C	ENST00000230122.3	-	2	1081	c.914A>G	c.(913-915)tAc>tGc	p.Y305C		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Y305C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AAAGTGATTGTACTTAAAGAC	0.473000													46	103					0	0	0.003610	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848037	48848037	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:48848037G>T	ENST00000394754.1	+	4	2295	c.2181G>T	c.(2179-2181)cgG>cgT	p.R727R	GTF2A1L_ENST00000403751.3_Silent_p.R23R|STON1-GTF2A1L_ENST00000405008.1_Silent_p.R727R|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Silent_p.R727R|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000402114.2_Silent_p.R727R|STON1-GTF2A1L_ENST00000309827.2_Silent_p.R727R	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		727					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R727R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGGAGTTCGGAATCTATTTG	0.289000													13	44					0.00316338	0.00360581	0.003163	1	0
PRDM2	7799	broad.mit.edu	37	1	14142945	14142945	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:14142945G>A	ENST00000235372.7	+	9	5916	c.5060G>A	c.(5059-5061)cGa>cAa	p.R1687Q	PRDM2_ENST00000503842.1_Missense_Mutation_p.D15N|PRDM2_ENST00000376048.5_Missense_Mutation_p.D179N|PRDM2_ENST00000505823.1_Missense_Mutation_p.D15N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1687						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1687Q(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTGGCGTCCCGATGCTCTCCA	0.587000													19	38					0	0	0.001882	0	0
STRC	161497	broad.mit.edu	37	15	43892287	43892287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:43892287G>A	ENST00000450892.2	-	28	5187	c.5110C>T	c.(5110-5112)Caa>Taa	p.Q1704*	STRC_ENST00000541030.1_Nonsense_Mutation_p.Q931*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1704					sensory perception of sound	cell surface		p.Q1704*(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTAGATAGTTGGATGGGACTA	0.557000													17	35					0	0	0.007413	0	0
PRB3	5544	broad.mit.edu	37	12	11420396	11420396	+	RNA	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:11420396G>T	ENST00000381842.3	-	0	698				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.R221S(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTGGACGAGGTGGGGGA	0.592000													114	332					7.48799e-53	1.19661e-52	0.003610	1	0
GPRASP2	114928	broad.mit.edu	37	X	101969872	101969872	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:101969872G>A	ENST00000543253.1	+	5	994	c.75G>A	c.(73-75)ggG>ggA	p.G25G	GPRASP2_ENST00000332262.5_Silent_p.G25G|GPRASP2_ENST00000535209.1_Silent_p.G25G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.G25G(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTATCGCTGGGCCTGAGAGAG	0.542000													46	100					0	0	0.002522	0	0
CHST12	55501	broad.mit.edu	37	7	2473023	2473023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:2473023G>A	ENST00000258711.6	+	2	884	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	250					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.R250H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCCTTCGTGCGCCTGATCTCC	0.602000													11	65					0	0	0.001368	0	0
PPRC1	23082	broad.mit.edu	37	10	103906777	103906777	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr10:103906777C>T	ENST00000278070.2	+	9	4067	c.4028C>T	c.(4027-4029)cCg>cTg	p.P1343L	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.P310L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.P1343L(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTGCCCCTCCGCCCCCATGC	0.617000													6	18					0	0	0.001984	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	56					0	0	0.000602	0	0
KEAP1	9817	broad.mit.edu	37	19	10610285	10610285	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr19:10610285G>A	ENST00000171111.5	-	2	972	c.425C>T	c.(424-426)aCg>aTg	p.T142M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T142M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	142	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.T142M(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GATGGAGGCCGTGTAGGCGAA	0.587000													17	22					0	0	0.004990	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769002	31769002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr19:31769002G>T	ENST00000240587.4	-	2	2024	c.1697C>A	c.(1696-1698)tCg>tAg	p.S566*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	566					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S566*(1)|p.S383*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCCCGACGAGCCCAGGGA	0.587000													38	56					1.67305e-13	2.5019e-13	0.006230	1	0
LMBRD1	55788	broad.mit.edu	37	6	70411385	70411385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr6:70411385C>T	ENST00000370577.3	-	11	1262	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	LMBRD1_ENST00000370570.1_Missense_Mutation_p.G272R	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	345					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.G345R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGGTTAGCTCCAAAAATTATG	0.274000													15	28					0	0	0.004990	0	0
TPCN1	53373	broad.mit.edu	37	12	113710467	113710467	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:113710467C>T	ENST00000550785.1	+	9	1138	c.969C>T	c.(967-969)ttC>ttT	p.F323F	TPCN1_ENST00000392569.4_Silent_p.F183F|TPCN1_ENST00000541517.1_Silent_p.F323F|TPCN1_ENST00000335509.6_Silent_p.F251F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	251						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F251F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCTAGGTTTCTACTTGTTCT	0.468000													131	251					0	0	0.003610	0	0
AR	367	broad.mit.edu	37	X	66863200	66863200	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:66863200A>T	ENST00000374690.3	+	2	2243	c.1719A>T	c.(1717-1719)ggA>ggT	p.G573G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Silent_p.G41G|AR_ENST00000396044.3_Silent_p.G573G|AR_ENST00000504326.1_Silent_p.G573G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	572	Interaction with HIPK3 (By similarity).		A -> D (in AIS; defective DNA binding and transactivation).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.G573G(1)|p.G383G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GTCACTATGGAGCTCTCACAT	0.493000									Androgen Insensitivity Syndrome				21	57					0	0	0.001523	0	0
RP1L1	94137	broad.mit.edu	37	8	10470626	10470626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr8:10470626G>A	ENST00000382483.3	-	4	1205	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	328					intracellular signal transduction			p.R328C(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGTGGAAGCGGACTTTCATC	0.657000													31	52					0	0	0.001786	0	0
AMICA1	120425	broad.mit.edu	37	11	118081271	118081271	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr11:118081271G>A	ENST00000292067.7	-	3	766	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	AMICA1_ENST00000533261.1_Missense_Mutation_p.R119C|AMICA1_ENST00000356289.5_Missense_Mutation_p.R119C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R80C	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	119	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.R109C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTTTGAGGCGGATTTCACAG	0.522000													28	88					0	0	0.008361	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696766	153696766	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:153696766G>A	ENST00000369682.3	+	23	4259	c.4084G>A	c.(4084-4086)Ggc>Agc	p.G1362S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1362					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.G1362S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCGACCGCGGCACCGTGGC	0.667000													6	34					0	0	0.001168	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127332	45127332	+	RNA	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr17:45127332G>A	ENST00000575173.1	-	0	418																											ACTCGCTCCCGCATGACCCAC	0.418000													5	216					0	0	0.001168	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													4	14					0	0	0.000602	0	0
LRRC66	339977	broad.mit.edu	37	4	52861066	52861066	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr4:52861066C>A	ENST00000343457.3	-	4	2128	c.2122G>T	c.(2122-2124)Ggg>Tgg	p.G708W		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	708						integral to membrane		p.E707_G708>DW(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AACAGAGACCCCTCATCAGAG	0.532000													31	61					1.80694e-10	2.53907e-10	0.001786	1	0
DDO	8528	broad.mit.edu	37	6	110714107	110714107	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr6:110714107A>T	ENST00000368924.3	-	5	996	c.981T>A	c.(979-981)ccT>ccA	p.P327P	DDO_ENST00000368923.3_Silent_p.P268P|DDO_ENST00000368925.1_Silent_p.P299P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	299					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.P327P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGTGGACTACAGGCAGCCTCT	0.637000													28	35					0	0	0.004656	0	0
TPCN1	53373	broad.mit.edu	37	12	113717996	113717996	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:113717996C>T	ENST00000550785.1	+	16	1723	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	TPCN1_ENST00000392569.4_Silent_p.F378F|TPCN1_ENST00000541517.1_Silent_p.F518F|TPCN1_ENST00000335509.6_Silent_p.F446F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	446						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F446F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCAGTATTTCATGTGTAAGT	0.423000													13	49					0	0	0.001855	0	0
XPO1	7514	broad.mit.edu	37	2	61721151	61721151	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:61721151G>T	ENST00000401558.2	-	12	1850	c.1123C>A	c.(1123-1125)Cat>Aat	p.H375N	XPO1_ENST00000404992.2_Missense_Mutation_p.H375N|XPO1_ENST00000406957.1_Missense_Mutation_p.H375N	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	375	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.H375N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GCAGCCAAATGATTCCAGTAT	0.393000			Mis		CLL								10	205					7.48243e-07	9.60343e-07	0.006214	1	0
CSPG4	1464	broad.mit.edu	37	15	75985532	75985532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:75985532G>A	ENST00000308508.5	-	2	223	c.131C>T	c.(130-132)aCg>aTg	p.T44M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	44	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.T44M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTCAGAGCCGTGGCCACAGG	0.627000													7	17					0	0	0.001984	0	0
LSM14A	26065	broad.mit.edu	37	19	34712504	34712504	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr19:34712504G>A	ENST00000544216.3	+	9	1306	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	LSM14A_ENST00000540746.2_Missense_Mutation_p.R369K|LSM14A_ENST00000433627.5_Missense_Mutation_p.R410K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	410					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R410K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GGGGGATACAGAGGCAGAGGA	0.537000													12	32					0	0	0.001855	0	0
KCNK10	54207	broad.mit.edu	37	14	88693778	88693778	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr14:88693778C>G	ENST00000340700.5	-	4	1058	c.607G>C	c.(607-609)Gga>Cga	p.G203R	KCNK10_ENST00000312350.5_Missense_Mutation_p.G208R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G208R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	203					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G208R(2)|p.G203R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGTTGGTCTCCAATTCCAGCC	0.403000													49	136					0	0	0.003610	0	0
MED12	9968	broad.mit.edu	37	X	70354597	70354597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:70354597G>A	ENST00000333646.6	+	35	4961	c.4762G>A	c.(4762-4764)Gtg>Atg	p.V1588M	MED12_ENST00000374080.3_Missense_Mutation_p.V1588M|MED12_ENST00000374102.1_Missense_Mutation_p.V1588M|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1588					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.V1588M(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATGCTGAGCGTGCTCATCAA	0.483000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						36	137					0	0	0.004289	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179358664	179358664	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:179358664C>T	ENST00000234453.4	+	4	800	c.398C>T	c.(397-399)aCa>aTa	p.T133I	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	133						cytoplasm|membrane		p.T133I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAAGTTCATACAATACAGGAA	0.403000													8	68					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25485066	25485066	+	RNA	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:25485066C>T	ENST00000453082.2	+	0	1979				SNORD115-38_ENST00000365037.1_RNA	NR_003343.1																						CGCTGAGGCCCAGCCTAGGTG	0.512000													45	333					0	0	0.002522	0	0
RBM44	375316	broad.mit.edu	37	2	238729761	238729761	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:238729761T>C	ENST00000316997.4	+	6	2096	c.1964T>C	c.(1963-1965)cTg>cCg	p.L655P	RBM44_ENST00000409864.1_Missense_Mutation_p.L655P	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	654							nucleotide binding|RNA binding	p.L655P(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TCAGCACTACTGTCTCTTTTG	0.378000													16	30					0	0	0.004990	0	0
DYTN	391475	broad.mit.edu	37	2	207564875	207564875	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:207564875G>T	ENST00000452335.2	-	6	665	c.549C>A	c.(547-549)ttC>ttA	p.F183L	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	183						plasma membrane	zinc ion binding	p.F183L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCACCCCTTGGAAACAGCTGC	0.493000													16	34					6.94344e-10	9.59137e-10	0.006122	1	0
ATP2C2	9914	broad.mit.edu	37	16	84486767	84486767	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr16:84486767G>A	ENST00000416219.2	+	19	1944	c.1855G>A	c.(1855-1857)Ggg>Agg	p.G619R	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G619R			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	619					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G619R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTGTGCAACGGGAAGCTGCA	0.672000													4	17					0	0	0.000248	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604663	13604663	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr4:13604663C>T	ENST00000040738.5	-	10	3996	c.3861G>A	c.(3859-3861)gtG>gtA	p.V1287V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1287							DNA binding	p.V1287V(1)									GCACAACAGTCACTGAACTTA	0.448000													17	37					0	0	0.004007	0	0
TPCN1	53373	broad.mit.edu	37	12	113715147	113715147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:113715147C>T	ENST00000550785.1	+	13	1547	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Q320*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Q460*|TPCN1_ENST00000335509.6_Nonsense_Mutation_p.Q388*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	388						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.Q388*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCCTGAATCAGAACAACAC	0.577000													11	15					0	0	0.001368	0	0
CCL8	6355	broad.mit.edu	37	17	32646553	32646553	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr17:32646553G>T	ENST00000394620.1	+	1	499	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	11					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	p.L11L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGTGCCTGCTGCTCATGGCAG	0.512000													13	51					3.45872e-05	4.20725e-05	0.004007	1	0
SCN1A	6323	broad.mit.edu	37	2	166900385	166900385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:166900385G>A	ENST00000423058.2	-	11	1854	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R613*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R613*(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTCCGTGTCGTCGGGGCACA	0.542000													12	57					0	0	0.000978	0	0
KCNK2	3776	broad.mit.edu	37	1	215342563	215342563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:215342563G>T	ENST00000444842.2	+	4	647	c.497G>T	c.(496-498)cGc>cTc	p.R166L	KCNK2_ENST00000391894.2_Missense_Mutation_p.R151L|KCNK2_ENST00000391895.2_Missense_Mutation_p.R162L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	166							outward rectifier potassium channel activity	p.R166L(1)|p.R151L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATCTCACCACGCACAGAAGGC	0.368000													33	92					8.73648e-17	1.33088e-16	0.004289	1	0
LTBP1	4052	broad.mit.edu	37	2	33359878	33359878	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:33359878G>A	ENST00000404816.2	+	5	1405	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	LTBP1_ENST00000407925.1_Missense_Mutation_p.R25H|LTBP1_ENST00000390003.4_Missense_Mutation_p.R25H|LTBP1_ENST00000354476.3_Missense_Mutation_p.R351H|LTBP1_ENST00000418533.2_Missense_Mutation_p.R25H|LTBP1_ENST00000404525.1_Missense_Mutation_p.R25H|LTBP1_ENST00000402934.1_Missense_Mutation_p.R25H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	351					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.R351H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACACTGGCCGCATCAAGGTG	0.478000													4	141					0	0	0.000602	0	0
INADL	10207	broad.mit.edu	37	1	62349930	62349930	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:62349930A>G	ENST00000371158.2	+	22	3095	c.2981A>G	c.(2980-2982)cAa>cGa	p.Q994R	INADL_ENST00000316485.6_Missense_Mutation_p.Q994R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	994					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Q994R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AATGATGTCCAAGGTCCTAGC	0.458000													56	130					0	0	0.003610	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820812	24820812	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr10:24820812C>A	ENST00000376451.2	+	10	2445	c.2185C>A	c.(2185-2187)Cct>Act	p.P729T	KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T			Q5T5P2	SKT_HUMAN	KIAA1217	1046					embryonic skeletal system development	cytoplasm		p.P1046T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGTCGCCCCCTCCTCCTCC	0.517000													15	20					2.23348e-06	2.80045e-06	0.004007	1	0
TP53	7157	broad.mit.edu	37	17	7578536	7578536	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr17:7578536T>C	ENST00000420246.2	-	5	526	c.394A>G	c.(394-396)Aag>Gag	p.K132E	TP53_ENST00000445888.2_Missense_Mutation_p.K132E|TP53_ENST00000455263.2_Missense_Mutation_p.K132E|TP53_ENST00000359597.4_Missense_Mutation_p.K132E|TP53_ENST00000269305.4_Missense_Mutation_p.K132E|TP53_ENST00000413465.2_Missense_Mutation_p.K132E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132E(20)|p.K132Q(13)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K132*(3)|p.N131fs*27(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.L130fs*16(1)|p.K132W(1)|p.K39E(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAAACATCTTGTTGAGGGCA	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	15					0	0	0.004482	0	0
KLK7	5650	broad.mit.edu	37	19	51483661	51483661	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr19:51483661G>C	ENST00000391807.1	-	4	405	c.304C>G	c.(304-306)Ccc>Gcc	p.P102A	KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000597707.1_Missense_Mutation_p.P30A|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.P102A	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	102	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.P102A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GAGTAGCCGGGGTGGCGGAAT	0.572000													17	22					0	0	0.004990	0	0
EXT2	2132	broad.mit.edu	37	11	44135768	44135768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr11:44135768G>T	ENST00000395673.3	+	4	815	c.759G>T	c.(757-759)tgG>tgT	p.W253C	EXT2_ENST00000533608.1_Missense_Mutation_p.W220C|EXT2_ENST00000343631.3_Missense_Mutation_p.W220C|EXT2_ENST00000358681.4_Missense_Mutation_p.W220C|EXT2_ENST00000529186.1_3'UTR	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	220					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.W220C(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTTCTACGTGGACTTACCGGC	0.473000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				43	116					3.43241e-23	5.32842e-23	0.002222	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328860	88328860	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr13:88328860C>T	ENST00000325089.6	+	2	1436	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P165L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	406	LRRNT.					integral to membrane		p.P406L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAACTGCAGCCCAAGCCCTAC	0.567000													14	32					0	0	0.001855	0	0
OR10P1	121130	broad.mit.edu	37	12	56031203	56031203	+	Silent	SNP	G	G	T	rs147317388	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:56031203G>T	ENST00000309675.2	+	1	560	c.528G>T	c.(526-528)ccG>ccT	p.P176P		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P176P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CGATCATCCCGCACTTTCTCT	0.562000													20	100					1.01871e-10	1.45658e-10	0.008871	1	0
CD37	951	broad.mit.edu	37	19	49843570	49843570	+	Silent	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr19:49843570C>A	ENST00000323906.4	+	8	972	c.831C>A	c.(829-831)ctC>ctA	p.L277L	CD37_ENST00000426897.2_Silent_p.L209L	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	277						integral to membrane		p.L277L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		ACAACCGGCTCGCTCGATACC	0.577000													20	24					1.22574e-08	1.66496e-08	0.002299	1	0
LRRC66	339977	broad.mit.edu	37	4	52861067	52861067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr4:52861067C>A	ENST00000343457.3	-	4	2127	c.2121G>T	c.(2119-2121)gaG>gaT	p.E707D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	707						integral to membrane		p.E707_G708>DW(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACAGAGACCCCTCATCAGAGT	0.527000													30	63					1.13719e-10	1.61184e-10	0.008361	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	14					0.00024832	0.000291195	0.000248	1	0
ROBO4	54538	broad.mit.edu	37	11	124756661	124756661	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr11:124756661G>A	ENST00000306534.3	-	16	2978	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	ROBO4_ENST00000533054.1_Silent_p.I686I|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	831					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.I831I(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TTGGGACGCTGATGTACCCAT	0.622000													26	43					0	0	0.005443	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220345342	220345342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:220345342C>A	ENST00000358951.2	-	23	2582	c.2466G>T	c.(2464-2466)caG>caT	p.Q822H		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	822					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.Q822H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGCGCATCTGCTGCCACCATG	0.468000													20	41					1.33834e-09	1.83318e-09	0.007413	1	0
FIGN	55137	broad.mit.edu	37	2	164466086	164466086	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:164466086G>T	ENST00000333129.3	-	3	2570	c.2256C>A	c.(2254-2256)aaC>aaA	p.N752K	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	752						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.N752K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAAACATTTTGTTCCATTCAA	0.378000													8	62					0.000157383	0.000187252	0.003080	1	0
ATP7A	538	broad.mit.edu	37	X	77286941	77286941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:77286941G>T	ENST00000341514.6	+	16	3310	c.3155G>T	c.(3154-3156)gGa>gTa	p.G1052V	ATP7A_ENST00000343533.5_Missense_Mutation_p.G974V|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55V	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.G1052V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTACTCACGGAACCCCAGTG	0.378000													91	197					1.78623e-52	2.82675e-52	0.003610	1	0
KIAA1324	57535	broad.mit.edu	37	1	109707159	109707159	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:109707159G>T	ENST00000369939.3	+	3	496	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	KIAA1324_ENST00000529753.1_Missense_Mutation_p.D105Y	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	105					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.D105Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGATATGAAGGACCAGTCATG	0.587000													36	114					6.97489e-18	1.07255e-17	0.004878	1	0
STK11	6794	broad.mit.edu	37	19	1220685	1220685	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr19:1220685A>T	ENST00000326873.7	+	5	1876	c.703A>T	c.(703-705)Aag>Tag	p.K235*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	235	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.K235*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGCTTCAAGGTGGACAT	0.697000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			12	17					0	0	0.000978	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352570	51352570	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr14:51352570G>C	ENST00000337334.2	+	7	634	c.619G>C	c.(619-621)Ggc>Cgc	p.G207R	ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Missense_Mutation_p.G130R|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Missense_Mutation_p.G100R	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	207							hydrolase activity	p.G207R(1)|p.G130R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGCAAGAAGTGGCATCACTCC	0.522000													47	124					0	0	0.003214	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Silent	SNP	C	C	A	rs144099662	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:168726189C>A	ENST00000305861.1	+	2	991	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	B3GALT1_ENST00000392690.2_Silent_p.R214R|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000													9	75					7.48243e-07	9.60343e-07	0.006214	1	0
KCNA6	3742	broad.mit.edu	37	12	4920464	4920464	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:4920464A>T	ENST00000433855.1	+	1	2123	c.1257A>T	c.(1255-1257)acA>acT	p.T419T	KCNA6_ENST00000280684.3_Silent_p.T419T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T419T(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CAGTGGTTACAATGACCACGG	0.587000										HNSCC(72;0.22)			21	79					0	0	0.001882	0	0
ZNF74	7625	broad.mit.edu	37	22	20760447	20760447	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr22:20760447T>C	ENST00000400451.2	+	5	1638	c.1124T>C	c.(1123-1125)cTc>cCc	p.L375P	ZNF74_ENST00000356671.5_Missense_Mutation_p.L375P|ZNF74_ENST00000405993.1_Missense_Mutation_p.L343P|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	375					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	p.L375P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGTACACACCTCACACGCCAC	0.657000													3	57					0	0	0.004672	0	0
NPLOC4	55666	broad.mit.edu	37	17	79580446	79580446	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr17:79580446G>A	ENST00000374747.5	-	4	413	c.284C>T	c.(283-285)cCg>cTg	p.P95L	NPLOC4_ENST00000331134.6_Missense_Mutation_p.P95L|NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000574344.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	95					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	p.P95L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTTGAAGCCCGGTGGAACTGA	0.517000													33	29					0	0	0.003271	0	0
CCBL1	883	broad.mit.edu	37	9	131605043	131605043	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr9:131605043C>T	ENST00000436267.2	-	5	522	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.V31M|CCBL1_ENST00000320665.6_Missense_Mutation_p.V31M			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	31					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.V31M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CCCAAGTTCACGACGTCATGC	0.562000													21	23					0	0	0.002299	0	0
NUDT1	4521	broad.mit.edu	37	7	2289637	2289637	+	Splice_Site	SNP	G	G	A	rs115556911	by1000genomes	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:2289637G>A	ENST00000397049.1	+	4	469	c.367_splice	c.e4+1	p.E123_splice	NUDT1_ENST00000339737.2_Splice_Site_p.E100_splice|NUDT1_ENST00000397046.1_Splice_Site_p.E100_splice|NUDT1_ENST00000356714.1_Splice_Site_p.E100_splice|NUDT1_ENST00000343985.4_Splice_Site_p.E123_splice|NUDT1_ENST00000397048.1_Splice_Site_p.E123_splice|NUDT1_ENST00000487426.1_3'UTR	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	141	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	p.E123K(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GGAGAGCGACGGTGAGTCTCA	0.632000								Modulation of nucleotide pools					18	53					0	0	0.006122	0	0
COL13A1	1305	broad.mit.edu	37	10	71716763	71716763	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr10:71716763G>A	ENST00000356340.3	+	38	2652	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.706_706insK	COL13A1_ENST00000398968.3_Missense_Mutation_p.687_687insK|COL13A1_ENST00000398978.3_Missense_Mutation_p.706_706insK|COL13A1_ENST00000398974.3_Missense_Mutation_p.694_694insK|COL13A1_ENST00000398973.3_Missense_Mutation_p.680_680insK|COL13A1_ENST00000398971.3_Missense_Mutation_p.691_691insK|COL13A1_ENST00000357811.3_Missense_Mutation_p.672_672insK|COL13A1_ENST00000398966.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000398972.3_Missense_Mutation_p.692_692insK|COL13A1_ENST00000517713.1_Missense_Mutation_p.657_657insK|COL13A1_ENST00000398964.3_Missense_Mutation_p.677_677insK|COL13A1_ENST00000520133.1_Missense_Mutation_p.599_599insK|COL13A1_ENST00000354547.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000520267.1_Missense_Mutation_p.634_634insK|COL13A1_ENST00000522165.1_Missense_Mutation_p.675_675insK|COL13A1_ENST00000398969.3_Missense_Mutation_p.634_634insK			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	0	Nonhelical region 4 (NC4).			E -> Q (in Ref. 4; AAA52047/AAA52048 and 5; AAA51987/AAA51988/AAA51989/AAA51990/ AAA51991).	cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.E706K(1)|p.E689K(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTTGCAGGGCGAAGATGGCTT	0.557000													14	36					0	0	0.004990	0	0
ARL5A	26225	broad.mit.edu	37	2	152663470	152663470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:152663470C>G	ENST00000295087.8	-	5	667	c.356G>C	c.(355-357)gGa>gCa	p.G119A	ARL5A_ENST00000428992.2_Missense_Mutation_p.G82A	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	119					small GTPase mediated signal transduction	intracellular	GTP binding	p.G119A(1)		breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		AATCAGCAATCCAGCTTTTCT	0.318000													6	53					0	0	0.004482	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904436	144904436	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:144904436C>T	ENST00000370490.1	+	1	4748	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SLITRK2_ENST00000434188.2_Silent_p.L165L|SLITRK2_ENST00000428560.2_Silent_p.L165L|SLITRK2_ENST00000447897.2_Silent_p.L165L|SLITRK2_ENST00000413937.2_Silent_p.L165L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	165						integral to membrane		p.L165L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCTCATCCTGAATGACAA	0.502000													45	143					0	0	0.003214	0	0
AFF2	2334	broad.mit.edu	37	X	147924509	147924509	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:147924509C>T	ENST00000370460.2	+	6	1672	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	AFF2_ENST00000370458.1_Missense_Mutation_p.P365L|AFF2_ENST00000286437.5_Missense_Mutation_p.P39L|AFF2_ENST00000342251.3_Missense_Mutation_p.P365L|AFF2_ENST00000370457.5_Missense_Mutation_p.P365L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	398					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P398L(2)|p.P39L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTGACCCCAGGATTCACC	0.348000													36	145					0	0	0.003271	0	0
MAGEB6	158809	broad.mit.edu	37	X	26211971	26211971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:26211971G>T	ENST00000379034.1	+	2	157	c.8G>T	c.(7-9)cGg>cTg	p.R3L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	3								p.R3L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCATGCCTCGGGGTCACAAG	0.572000													16	70					3.32936e-07	4.34148e-07	0.006122	1	0
RGPD4	285190	broad.mit.edu	37	2	108488692	108488692	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:108488692T>C	ENST00000408999.3	+	20	4309	c.4232T>C	c.(4231-4233)aTa>aCa	p.I1411T	RGPD4_ENST00000354986.4_Missense_Mutation_p.I1411T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1411	RanBD1 2.				intracellular transport		binding	p.I1411T(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATCACACAATAACTCCAGAC	0.358000													239	511					0	0	0.003610	0	0
CCDC113	29070	broad.mit.edu	37	16	58312467	58312467	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr16:58312467G>A	ENST00000219299.4	+	8	1052	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	CCDC113_ENST00000443128.2_Missense_Mutation_p.V271I	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	325						protein complex		p.V325I(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GATGACTTACGTCCGGGAGAA	0.587000													34	50					0	0	0.002836	0	0
PGR	5241	broad.mit.edu	37	11	100962496	100962496	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr11:100962496A>C	ENST00000325455.5	-	3	3354	c.1901T>G	c.(1900-1902)cTt>cGt	p.L634R	PGR_ENST00000263463.5_Missense_Mutation_p.L634R|PGR_ENST00000534013.1_Missense_Mutation_p.L40R	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	634					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.L634R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ATTACCTCCAAGGACCATGCC	0.363000													11	25					0	0	0.001855	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26240191	26240191	+	Splice_Site	SNP	C	C	A	rs112694138		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:26240191C>A	ENST00000354667.4	-	1	175		c.e1+1		HNRNPA2B1_ENST00000356674.7_Splice_Site	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.?(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AAACCCGTTACCTCCATCGCG	0.607000			T	ETV1	prostate								18	133					8.34094e-07	1.06217e-06	0.008871	1	0
EPCAM	4072	broad.mit.edu	37	2	47606164	47606164	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:47606164G>A	ENST00000263735.4	+	6	986	c.628G>A	c.(628-630)Gct>Act	p.A210T	EPCAM_ENST00000405271.1_Missense_Mutation_p.A238T	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	210					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.A210T(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TGTGGACATAGCTGATGTGGC	0.294000													20	68					0	0	0.001882	0	0
NID2	22795	broad.mit.edu	37	14	52507564	52507564	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr14:52507564C>A	ENST00000216286.5	-	8	1830	c.1831G>T	c.(1831-1833)Gcc>Tcc	p.A611S	NID2_ENST00000541773.1_Missense_Mutation_p.A558S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	611	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.A611S(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGGTAAAGGCAGCACCTGGA	0.473000													23	89					3.62473e-10	5.04984e-10	0.001882	1	0
MIR891A	100126341	broad.mit.edu	37	X	145109318	145109318	+	RNA	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:145109318G>A	ENST00000401237.1	-	0	72					NR_030581.1																						tatctcttttgaccctcacaa	0.438000													21	57					0	0	0.003330	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	41					0	0	0.000602	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931885	11931885	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr16:11931885G>A	ENST00000571133.1	-	9	1304	c.1232C>T	c.(1231-1233)cCa>cTa	p.P411L	RSL1D1_ENST00000542106.1_Missense_Mutation_p.P191L	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	411					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.P411L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ctcagatgctggcaaagcctt	0.448000													18	501					0	0	0.006122	0	0
GCA	25801	broad.mit.edu	37	2	163208879	163208879	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:163208879G>C	ENST00000437150.2	+	3	385	c.224G>C	c.(223-225)aGa>aCa	p.R75T	GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.R56T|GCA_ENST00000233612.4_Missense_Mutation_p.R56T	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	75	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	p.R75T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						GAACTTCAGAGATGTTTGACA	0.299000													20	69					0	0	0.001882	0	0
FOXB1	27023	broad.mit.edu	37	15	60297987	60297987	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:60297987G>T	ENST00000396057.4	+	2	1304	c.825G>T	c.(823-825)gcG>gcT	p.A275A	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	275					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L275L(1)|p.A275A(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CGCTGCCTGCGCTGCCAGCGC	0.731000													5	11					0.00116845	0.00134124	0.001168	1	0
BRINP3	339479	broad.mit.edu	37	1	190068054	190068054	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:190068054G>T	ENST00000367462.3	-	8	1626	c.1395C>A	c.(1393-1395)acC>acA	p.T465T	FAM5C_ENST00000534846.1_Silent_p.T363T|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		465						extracellular region		p.T465T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCATGTAGCCGGTGTTGCAGG	0.597000													52	109					1.42923e-14	2.15707e-14	0.003610	1	0
AOX1	316	broad.mit.edu	37	2	201468820	201468820	+	Splice_Site	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:201468820G>T	ENST00000374700.2	+	8	910	c.669_splice	c.e8+1	p.M223_splice		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	223					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.M223I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTGAGCTAATGGTGAGTAAAG	0.403000													19	33					2.94398e-08	3.93335e-08	0.007413	1	0
RASGRP1	10125	broad.mit.edu	37	15	38791143	38791143	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000539159.1_Silent_p.C527C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468000													5	331					0	0	0.001168	0	0
DIDO1	11083	broad.mit.edu	37	20	61541330	61541330	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr20:61541330G>A	ENST00000266070.4	-	4	1207	c.882C>T	c.(880-882)ggC>ggT	p.G294G	DIDO1_ENST00000395343.1_Silent_p.G294G|DIDO1_ENST00000266071.5_Silent_p.G294G|DIDO1_ENST00000395335.2_Silent_p.G294G|DIDO1_ENST00000395340.1_Silent_p.G294G|DIDO1_ENST00000370368.1_Silent_p.G294G|DIDO1_ENST00000370366.1_Silent_p.G294G|DIDO1_ENST00000370371.4_Silent_p.G294G|DIDO1_ENST00000354665.4_Silent_p.G294G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	294					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G294G(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCACACAATCGCCATGAAACC	0.448000													23	35					0	0	0.003954	0	0
AGXT	189	broad.mit.edu	37	2	241812439	241812439	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:241812439G>A	ENST00000307503.3	+	5	955	c.568G>A	c.(568-570)Ggg>Agg	p.G190R		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	190			G -> R (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.G190R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATCCCTGGGCGGGACCCCCCT	0.662000													13	84					0	0	0.003163	0	0
PARD6B	84612	broad.mit.edu	37	20	49366455	49366455	+	Silent	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr20:49366455A>G	ENST00000371610.2	+	3	792	c.549A>G	c.(547-549)ccA>ccG	p.P183P	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	183	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	p.P183P(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GGGTAACACCACATGGCTTAG	0.473000													22	41					0	0	0.001882	0	0
THNSL2	55258	broad.mit.edu	37	2	88485519	88485519	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr2:88485519G>T	ENST00000324166.5	+	8	3023	c.1332G>T	c.(1330-1332)ctG>ctT	p.L444L	THNSL2_ENST00000358591.2_Silent_p.L444L|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000449349.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	444					threonine biosynthetic process		threonine synthase activity	p.L444L(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TCGTAGCCCTGGAGCACAAGG	0.637000													4	16					0.00024832	0.000291195	0.000248	1	0
HIST1H3D	8351	broad.mit.edu	37	6	26199202	26199202	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr6:26199202G>A	ENST00000377831.5	-	0	319				HIST1H2AD_ENST00000341023.1_Silent_p.N90N	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d						blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.N90N(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCTCCTCGTCGTTGCGGATGG	0.597000													24	132					0	0	0.005443	0	0
TH	7054	broad.mit.edu	37	11	2189322	2189322	+	Splice_Site	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr11:2189322G>T	ENST00000381178.1	-	5	686	c.669_splice	c.e5+1	p.P223_splice	TH_ENST00000352909.3_Splice_Site_p.P192_splice|TH_ENST00000333684.5_Splice_Site_p.P196_splice|TH_ENST00000381175.1_Splice_Site_p.P219_splice	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	223					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.P223Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACCACTCACCGGGTGGTCCAA	0.597000													10	52					0.000442599	0.000515312	0.006214	1	0
TPCN1	53373	broad.mit.edu	37	12	113715134	113715134	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr12:113715134C>T	ENST00000550785.1	+	13	1534	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	TPCN1_ENST00000392569.4_Silent_p.F315F|TPCN1_ENST00000541517.1_Silent_p.F455F|TPCN1_ENST00000335509.6_Silent_p.F383F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	383						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F383F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ATCTTACCTTCAAGGCCCTGA	0.582000													10	15					0	0	0.000978	0	0
ZNF521	25925	broad.mit.edu	37	18	22804462	22804462	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr18:22804462G>A	ENST00000361524.3	-	4	3568	c.3420C>T	c.(3418-3420)tgC>tgT	p.C1140C	ZNF521_ENST00000538137.2_Silent_p.C1140C|ZNF521_ENST00000584787.1_Silent_p.C920C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1140					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S1141T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCAGCTAGAGCAGCGTGTCT	0.532000			T	PAX5	ALL								26	44					0	0	0.003954	0	0
C15orf60	283677	broad.mit.edu	37	15	73766253	73766253	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr15:73766253G>A	ENST00000331090.6	+	2	268	c.240G>A	c.(238-240)caG>caA	p.Q80Q	C15orf60_ENST00000560581.1_Silent_p.Q80Q	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	80								p.Q80Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TCCAAGGACAGACACTACTGG	0.343000													11	12					0	0	0.000978	0	0
JAG2	3714	broad.mit.edu	37	14	105609331	105609331	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr14:105609331G>A	ENST00000331782.3	-	26	3821	c.3418C>T	c.(3418-3420)Cgg>Tgg	p.R1140W	JAG2_ENST00000347004.2_Missense_Mutation_p.R1102W	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1140					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.R1140W(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCCCCGGCCGCTCAATGGGG	0.731000													15	24					0	0	0.004007	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154716	23154716	+	RNA	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr22:23154716G>T	ENST00000390315.2	+	0	320																											CTATCAGTGGGGCCCAGGTGG	0.532000													14	41					1.5842e-08	2.13409e-08	0.001855	1	0
ZNF521	25925	broad.mit.edu	37	18	22804461	22804461	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr18:22804461A>T	ENST00000361524.3	-	4	3569	c.3421T>A	c.(3421-3423)Tct>Act	p.S1141T	ZNF521_ENST00000538137.2_Missense_Mutation_p.S1141T|ZNF521_ENST00000584787.1_Missense_Mutation_p.S921T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1141					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S1141T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGCAGCTAGAGCAGCGTGTC	0.532000			T	PAX5	ALL								25	45					0	0	0.003330	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789746	6789746	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr11:6789746G>C	ENST00000338569.2	-	1	540	c.443C>G	c.(442-444)tCc>tGc	p.S148C		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S148C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGGATCCAGGATGTGGCCAC	0.507000													12	56					0	0	0.001368	0	0
EPHA5	2044	broad.mit.edu	37	4	66201731	66201731	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr4:66201731T>G	ENST00000273854.3	-	16	3371	c.2771A>C	c.(2770-2772)aAg>aCg	p.K924T	EPHA5_ENST00000354839.4_Missense_Mutation_p.K902T|EPHA5_ENST00000432638.2_Missense_Mutation_p.K761T|EPHA5_ENST00000511294.1_Missense_Mutation_p.K925T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	924	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.K924T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTCATCAAACTTGGGCCTGCT	0.488000										TSP Lung(17;0.13)			14	76					0	0	0.002450	0	0
NUP88	4927	broad.mit.edu	37	17	5317415	5317415	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr17:5317415G>A	ENST00000573584.1	-	3	1016	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	169					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	p.T169T(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GAGTCAGAGAGGTGGAACTGG	0.368000													14	12					0	0	0.001855	0	0
RIT1	6016	broad.mit.edu	37	1	155874531	155874532	+	In_Frame_Ins	INS	-	-	GTATCCAAA			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:155874531_155874532insGTATCCAAA	ENST00000368323.3	-	4	431_432	c.227_228insTTTGGATAC	c.(226-228)agc>aTTTGGATACgc	p.76_76S>IWIR	RIT1_ENST00000539040.1_In_Frame_Ins_p.40_40S>IWIR|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_In_Frame_Ins_p.93_93S>IWIR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	76					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCTGTCCAGCTGTATCCAAAAT	0.401													14	72	---	---	---	---					
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGATGAGGCGAAAAAAAAGGA	0.388													8	134	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	105	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142274739	142274740	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr3:142274739_142274740insT	ENST00000350721.4	-	10	2441_2442	c.2320_2321insA	c.(2320-2322)accfs	p.T774fs	ATR_ENST00000383101.3_Frame_Shift_Ins_p.T710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	774					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGGACTAGGTATTTTTTTTTTC	0.332								Other conserved DNA damage response genes					10	125	---	---	---	---					
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:39515752_39515753insA	ENST00000316423.6	-	3	556_557	c.214_215insT	c.(214-216)tacfs	p.Y72fs	UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AATATTGGTAGAAAAAAAAAGA	0.297													8	194	---	---	---	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:29694802_29694803insT	ENST00000259951.7	+	7	1235_1236	c.1179_1180insT	c.(1177-1182)ttttttfs	p.FF393fs	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													10	345	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30545854	30545854	+	Splice_Site	DEL	A	A	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:30545854delA	ENST00000326195.8	+	4	330	c.216_splice	c.e4-1	p.Q73_splice	ABCF1_ENST00000396515.4_Splice_Site_p.Q73_splice|ABCF1_ENST00000376545.3_Splice_Site_p.Q73_splice	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCTCAGCAGCAAAAAAAAAAG	0.493													10	81	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759163	6759164	+	RNA	DEL	AG	AG	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:6759163_6759164delAG	ENST00000486256.1	+	0	346					NR_002217.1																						aaaaaaaaaaaGACCGTAGGAG	0.495													8	64	---	---	---	---					
KCND2	3751	broad.mit.edu	37	7	120385968	120385969	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:120385968_120385969insA	ENST00000331113.4	+	5	2567_2568	c.1602_1603insA	c.(1600-1605)caaaaafs	p.QK534fs		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	534					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CACGACGACACAAAAAAACTTT	0.450													11	119	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr10:70156583delT	ENST00000388768.2	-	4	783	c.457delA	c.(457-459)tgfs	p.M153fs	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													8	86	---	---	---	---					
ZDHHC13	54503	broad.mit.edu	37	11	19184974	19184974	+	Splice_Site	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:19184974delG	ENST00000446113.2	+	11	1354	c.1233_splice	c.e11+1	p.V411_splice	ZDHHC13_ENST00000399351.3_Splice_Site_p.V281_splice	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	411					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AAAAGAAAGTGGTGAGATTTC	0.358													15	31	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					7	134	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs112314315		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505													8	20	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88328297	88328297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr13:88328297delG	ENST00000325089.6	+	2	873	c.654delG	c.(652-654)gtfs	p.V218fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	218						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCCCTACGTGGGGCTCTTGC	0.483													36	58	---	---	---	---					
JPH4	84502	broad.mit.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)aggfs	p.R502fs	JPH4_ENST00000544177.1_Frame_Shift_Ins_p.R167fs|JPH4_ENST00000356300.4_Frame_Shift_Ins_p.R502fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688													8	177	---	---	---	---					
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402					NR_026859.1																						TGCCTCAAAAGTTTTTTTTTTT	0.297													8	59	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													7	57	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32823636	32823637	+	RNA	INS	-	-	C	rs112857933		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:32823636_32823637insC	ENST00000569859.1	+	0	373																											TTGCTGGAGTGGATGTGACAGG	0.495													7	102	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944259	19944260	+	RNA	DEL	GT	GT	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:19944259_19944260delGT	ENST00000591884.1	+	0	393																											TGGTAAAAACGTGTGTGTGTGT	0.426													7	123	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													8	66	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													14	38	---	---	---	---					
ARMCX3	51566	broad.mit.edu	37	X	100880216	100880216	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:100880216delG	ENST00000341189.4	+	5	1113	c.247delG	c.(247-249)ggfs	p.G83fs	ARMCX3_ENST00000537169.1_Frame_Shift_Del_p.G83fs|ARMCX3_ENST00000471229.2_Frame_Shift_Del_p.G83fs	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	83						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTCGGATTGGGACTGAAGC	0.562													25	157	---	---	---	---					
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418													9	94	---	---	---	---					
RIT1	6016	broad.mit.edu	37	1	155874531	155874532	+	In_Frame_Ins	INS	-	-	GTATCCAAA			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:155874531_155874532insGTATCCAAA	ENST00000368323.3	-	4	431_432	c.227_228insTTTGGATAC	c.(226-228)agc>aTTTGGATACgc	p.76_76S>IWIR	RIT1_ENST00000368322.3_In_Frame_Ins_p.93_93S>IWIR|RIT1_ENST00000539040.1_In_Frame_Ins_p.40_40S>IWIR|RIT1_ENST00000461050.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	76					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCTGTCCAGCTGTATCCAAAAT	0.401													14	72	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													7	116	---	---	---	---					
MANEA	79694	broad.mit.edu	37	6	96034896	96034897	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr6:96034896_96034897delTG	ENST00000369293.1	+	2	715_716	c.581_582delTG	c.(580-582)cfs	p.L194fs	MANEA_ENST00000358812.4_Intron			Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	0	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		tgtttgtgtctgtatatatgca	0.282													3	6	---	---	---	---					
INTS4P1	285905	broad.mit.edu	37	7	64639660	64639661	+	RNA	DEL	TT	TT	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:64639660_64639661delTT	ENST00000587624.1	+	0	552																											TCATTTGTTCTTTTTTCTAGAG	0.505													4	2	---	---	---	---					
KCND2	3751	broad.mit.edu	37	7	120385968	120385969	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr7:120385968_120385969insA	ENST00000331113.4	+	5	2567_2568	c.1602_1603insA	c.(1600-1605)caaaaafs	p.QK534fs		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	534					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CACGACGACACAAAAAAACTTT	0.450													11	119	---	---	---	---					
ZDHHC13	54503	broad.mit.edu	37	11	19184974	19184974	+	Splice_Site	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr11:19184974delG	ENST00000446113.2	+	11	1354	c.1233_splice	c.e11+1	p.V411_splice	ZDHHC13_ENST00000399351.3_Splice_Site_p.V281_splice	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	411					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AAAAGAAAGTGGTGAGATTTC	0.358													15	31	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88328297	88328297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr13:88328297delG	ENST00000325089.6	+	2	873	c.654delG	c.(652-654)gtfs	p.V218fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	218						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCCCTACGTGGGGCTCTTGC	0.483													36	58	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													4	7	---	---	---	---					
ARMCX3	51566	broad.mit.edu	37	X	100880216	100880216	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6990a90-6a99-490b-a476-5298f0c4e4f2	5ae06c17-3991-4413-a4ea-19a8bd67b45a	g.chrX:100880216delG	ENST00000341189.4	+	5	1113	c.247delG	c.(247-249)ggfs	p.G83fs	ARMCX3_ENST00000471229.2_Frame_Shift_Del_p.G83fs|ARMCX3_ENST00000537169.1_Frame_Shift_Del_p.G83fs	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	83						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTCGGATTGGGACTGAAGC	0.562													25	157	---	---	---	---					
