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
CDK19	23097	broad.mit.edu	37	6	110935826	110935826	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:110935826G>A	ENST00000368911.3	-	13	1600	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	CDK19_ENST00000413605.2_Missense_Mutation_p.S350F|CDK19_ENST00000323817.3_Missense_Mutation_p.S414F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	474	Ser-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GGACTGAGAGGATCCCTGAAC	0.532000													12	37					0	0	1	0	0
MRPL23	6150	broad.mit.edu	37	11	1977596	1977596	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:1977596G>C	ENST00000397298.3	+	5	493	c.408G>C	c.(406-408)caG>caC	p.Q136H	MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.Q136H	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	136					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGAGGCAGCAGAGGCAGAGCA	0.677000													6	65					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51503438	51503438	+	Splice_Site	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr8:51503438G>C	ENST00000522124.1	+	13	1471		c.e13-1		SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TATCATTGCAGATTAAAAAAA	0.269000													3	13					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62257047	62257047	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:62257047G>C	ENST00000261517.5	-	31	3138	c.3065C>G	c.(3064-3066)tCt>tGt	p.S1022C	VPS13C_ENST00000249837.3_Missense_Mutation_p.S979C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1022C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S979C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1022					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATTTAAAGATGAAAAGGC	0.378000													10	82					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42935134	42935134	+	Silent	SNP	A	A	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:42935134A>T	ENST00000405592.1	+	14	1741	c.1071A>T	c.(1069-1071)ggA>ggT	p.G357G	MTA3_ENST00000407270.3_Silent_p.G414G|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Silent_p.G413G|MTA3_ENST00000405094.1_Silent_p.G414G|MTA3_ENST00000406652.1_Silent_p.G357G			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	414						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AAAAATATGGAGGCTTGAAAA	0.408000													9	57					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618995	52618995	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:52618995G>A	ENST00000600228.1	-	4	1683	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AATGTATGCTGAAAACTTTGC	0.413000													19	145					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290779	62290779	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:62290779C>G	ENST00000378024.4	-	5	11384	c.11110G>C	c.(11110-11112)Gag>Cag	p.E3704Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3704					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCCACCTCAGGGCCTTTT	0.473000													20	231					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141259405	141259405	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:141259405C>A	ENST00000389484.3	-	55	9672	c.8701G>T	c.(8701-8703)Ggc>Tgc	p.G2901C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2901	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCACCTGCCATTTTTGCAC	0.373000										TSP Lung(27;0.18)			4	57					0.00024832	0.000257603	1	1	0
HERC1	8925	broad.mit.edu	37	15	64010891	64010891	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:64010891T>C	ENST00000443617.2	-	21	3947	c.3860A>G	c.(3859-3861)tAt>tGt	p.Y1287C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1287					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCAGGTTGATATCTAAATGA	0.353000													7	35					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710243	117710243	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:117710243T>A	ENST00000317775.6	-	10	2471	c.1786A>T	c.(1786-1788)Aca>Tca	p.T596S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.T596S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	596					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAATCTCTGTGCCCATGTAC	0.592000													13	57					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994643	994643	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:994643C>G	ENST00000537687.1	+	19	6096	c.5453C>G	c.(5452-5454)tCt>tGt	p.S1818C	WNK1_ENST00000530271.2_Missense_Mutation_p.S2056C|WNK1_ENST00000315939.6_Missense_Mutation_p.S1558C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1311C|WNK1_ENST00000340908.4_Missense_Mutation_p.S1151C	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1558					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAGGAGTGTCTAGTTATATT	0.483000													89	409					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													6	45					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429935	57429935	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr20:57429935G>A	ENST00000371100.4	+	1	2167	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D539N|GNAS_ENST00000371102.4_Missense_Mutation_p.D539N|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Silent_p.P475P	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCAGGCTGCCGATCCGCCTAC	0.726000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	7					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													5	43					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908105	164908105	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:164908105G>A	ENST00000475390.1	-	2	957	c.514C>T	c.(514-516)Cta>Tta	p.L172L	SLITRK3_ENST00000241274.3_Silent_p.L172L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	172						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AATTTACTTAGGTTCCGAAAT	0.398000										HNSCC(40;0.11)			21	68					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49129133	49129133	+	Missense_Mutation	SNP	C	C	T	rs76628003	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:49129133C>T	ENST00000443164.1	+	1	916	c.211C>T	c.(211-213)Cct>Tct	p.P71S	SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000598088.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	451	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCCTTCTCTCCTCCCTTCCC	0.677000													4	16					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96012146	96012146	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:96012146G>A	ENST00000260766.3	+	9	3804	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.R1057Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R749Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R749Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1057					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAGTGCTCGAAACCCCAGC	0.502000													6	48					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40457421	40457421	+	Missense_Mutation	SNP	G	G	A	rs144633113	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:40457421G>A	ENST00000301825.3	+	7	806	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.V230M|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.V230M|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	230						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AATATCCTTCGTGGCAGGAGA	0.552000													3	27					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048764	180048764	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr5:180048764C>T	ENST00000261937.6	-	13	1876	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.D600N|FLT4_ENST00000502649.1_Missense_Mutation_p.D600N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	600	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTGCGCATCGTGCAGCGTG	0.657000													30	55					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865597	118865597	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:118865597G>C	ENST00000295622.1	+	1	601	c.561G>C	c.(559-561)gaG>gaC	p.E187D		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	187										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCAGTCTGAGAGAAGAGCTT	0.507000													17	81					0	0	1	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7808219	7808219	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr8:7808219A>T	ENST00000443676.1	+	5	384	c.268A>T	c.(268-270)Ata>Tta	p.I90L	ZNF705B_ENST00000400120.3_Missense_Mutation_p.I90L			P0CI00	Z705L_HUMAN	zinc finger protein 705B	90					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.I90L(4)		kidney(2)|lung(2)	4						AAAACACATGATATCCATGCA	0.328000													6	44					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129866487	129866487	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:129866487A>T	ENST00000254667.3	+	12	1223	c.944A>T	c.(943-945)aAg>aTg	p.K315M	PTPRE_ENST00000419012.2_Missense_Mutation_p.K315M|PTPRE_ENST00000306042.5_Missense_Mutation_p.K257M	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	315	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGGATGCTGAAGTTCCTCAAG	0.632000													11	56					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739314	26739314	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:26739314G>A	ENST00000272371.2	-	5	607	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	OTOF_ENST00000403946.3_Missense_Mutation_p.R161W	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	161					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGGGCCGGGAGCTGGGC	0.637000													12	124					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52076481	52076481	+	Translation_Start_Site	SNP	C	C	A	rs2305371	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:52076481C>A	ENST00000262259.2	+	0	257				ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175						response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GACTCTCCGCCGTGTCCCTGG	0.527000													5	64					1.23904e-05	1.32244e-05	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515776	140515776	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr5:140515776A>T	ENST00000231134.5	+	1	977	c.760A>T	c.(760-762)Aac>Tac	p.N254Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		254	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCCCGAGAACAGCCCCCT	0.493000													103	223					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55873415	55873415	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:55873415C>G	ENST00000447944.2	-	21	1803	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	573					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAATAGCCTCCATCACAATT	0.323000													10	48					0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31504971	31504971	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:31504971T>A	ENST00000327237.2	-	8	950	c.911A>T	c.(910-912)gAg>gTg	p.E304V	C16orf58_ENST00000567994.1_Missense_Mutation_p.E259V|C16orf58_ENST00000430477.2_Missense_Mutation_p.E162V|C16orf58_ENST00000570164.1_Missense_Mutation_p.E302V			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	304						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GTCGAGTACCTCTCCCCTCTG	0.627000													5	56					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156979548	156979548	+	Silent	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr7:156979548A>G	ENST00000348165.5	+	10	1524	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	UBE3C_ENST00000389103.4_Silent_p.V345V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	388					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GACTGTCAGTATCATACATAA	0.483000													6	23					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158602	26158602	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:26158602G>C	ENST00000289316.2	+	1	229	c.205G>C	c.(205-207)Gac>Cac	p.D69H	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.D69H	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	69					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CTTCGTCAACGACATCTTCGA	0.577000													11	184					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735605	164735605	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:164735605C>G	ENST00000264382.3	-	30	3639	c.3577G>C	c.(3577-3579)Gat>Cat	p.D1193H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1193	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.D1193N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATATAAAAATCCAAGATCCCT	0.333000										HNSCC(35;0.089)			6	66					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs3831361	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							ATTTGTTCATGCCTTCCCTTT	0.453000													4	45					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67185026	67185026	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:67185026C>G	ENST00000371037.4	+	19	1757	c.1680C>G	c.(1678-1680)ctC>ctG	p.L560L	SGIP1_ENST00000371035.3_Silent_p.L350L|SGIP1_ENST00000371036.3_Silent_p.L362L|SGIP1_ENST00000371039.1_Silent_p.L363L|SGIP1_ENST00000237247.6_Silent_p.L591L|SGIP1_ENST00000435165.2_Silent_p.L65L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	560					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGGACACTCTCCCTGTTGCAG	0.438000													6	38					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100122338	100122338	+	Silent	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:100122338T>C	ENST00000375202.2	+	40	4922	c.3570T>C	c.(3568-3570)ctT>ctC	p.L1190L	CCDC180_ENST00000357054.1_Silent_p.L1161L|CCDC180_ENST00000529487.1_Silent_p.L1190L|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		TTCAGTACCTTAACTGCAGCC	0.517000													29	223					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399511	107399511	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr7:107399511C>A	ENST00000440859.2	+	6	1831	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P454H	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	455	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GGTATATGGCCTGCACCAAGA	0.512000													55	124					9.52127e-25	1.06754e-24	1	1	0
PARP1	142	broad.mit.edu	37	1	226567780	226567780	+	Silent	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:226567780G>C	ENST00000366794.5	-	10	1529	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	462	Automodification domain.|BRCT.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGAGGCGGAGACGTCCTGGA	0.512000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					6	42					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260722	42260722	+	Silent	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:42260722C>A	ENST00000199764.6	+	2	497	c.279C>A	c.(277-279)ccC>ccA	p.P93P	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	93	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGGGCCCGCATACAGTG	0.458000													23	251					5.26018e-13	5.78099e-13	1	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													4	27					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299999	62299999	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:62299999C>G	ENST00000378024.4	-	5	2164	c.1890G>C	c.(1888-1890)aaG>aaC	p.K630N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	630					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTCATCTTGGGCATTT	0.507000													12	139					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48088525	48088525	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr4:48088525G>C	ENST00000264316.4	-	10	999	c.914C>G	c.(913-915)tCc>tGc	p.S305C		NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	305	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTCAGACATGGAGCCTTCATT	0.433000													13	131					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768577	13768577	+	Silent	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:13768577C>T	ENST00000279593.3	-	6	1559	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	450					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P450P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATGTAACCCGGCTCCTCGT	0.353000													40	175					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423828	190423828	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:190423828C>A	ENST00000367462.3	-	2	424	c.193G>T	c.(193-195)Gac>Tac	p.D65Y	FAM5C_ENST00000534846.1_Missense_Mutation_p.W26C|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		65						extracellular region				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)					CGGCTTCTGTCCACAAAATCT	0.463000													3	29					1	1	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144942069	144942069	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr8:144942069G>A	ENST00000525985.1	-	2	5424	c.5353C>T	c.(5353-5355)Cgc>Tgc	p.R1785C				P58107	EPIPL_HUMAN	epiplakin 1	1785						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACGCGCATTTTTGCA	0.517000													40	112					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735289	55735289	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:55735289C>G	ENST00000312345.2	-	1	701	c.651G>C	c.(649-651)ttG>ttC	p.L217F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGACAATTTCAAAATGTTGG	0.393000													7	78					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658664	43658664	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:43658664T>C	ENST00000396976.2	-	3	1000	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Y288C|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	289					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGGAAGCCATATTCCCTGAG	0.557000													12	95					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291089	62291089	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:62291089C>G	ENST00000378024.4	-	5	11074	c.10800G>C	c.(10798-10800)ctG>ctC	p.L3600L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3600					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATCTTCAGATGCCAGT	0.483000													31	275					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865650	118865650	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:118865650G>C	ENST00000295622.1	+	1	654	c.614G>C	c.(613-615)aGa>aCa	p.R205T		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	205										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCTGAGCGAAGAACTTCTGAG	0.517000													14	104					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255489	16255489	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:16255489G>T	ENST00000375759.3	+	11	2958	c.2754G>T	c.(2752-2754)caG>caT	p.Q918H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	918					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAAACTTCAGGTCTCTCAGA	0.443000													46	188					5.20006e-24	5.77207e-24	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58830908	58830908	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:58830908G>A	ENST00000355431.3	+	20	2474	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	ARID4A_ENST00000431317.2_Missense_Mutation_p.E701K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E701K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E701K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	701					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCTGATAGTGAAACAGAAGA	0.234000													11	68					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185891515	185891515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:185891515C>G	ENST00000271588.4	+	7	1134	c.905C>G	c.(904-906)tCa>tGa	p.S302*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S302*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	302					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTCAGACCTCAAGCAGTGGA	0.448000													11	59					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17983383	17983383	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:17983383C>G	ENST00000222248.3	+	1	602	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	85					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTATGGCCTCAAGTTCCTCT	0.672000													7	19					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33381858	33381858	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:33381858G>A	ENST00000374516.3	+	8	995	c.724G>A	c.(724-726)Gag>Aag	p.E242K	PHF1_ENST00000374512.3_Missense_Mutation_p.E242K	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	242					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CGGGGGCCCTGAGAAAGTCCG	0.527000													15	79					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	61					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40627183	40627183	+	Missense_Mutation	SNP	C	C	T	rs147792979	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:40627183C>T	ENST00000372771.4	+	1	139	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	38					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCGGGGTCATCGCCCCGTATC	0.672000													3	29					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44220884	44220884	+	Silent	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:44220884C>A	ENST00000371554.1	+	11	2048	c.1834C>A	c.(1834-1836)Cgg>Agg	p.R612R	HSP90AB1_ENST00000353801.3_Silent_p.R612R|HSP90AB1_ENST00000371646.5_Silent_p.R612R			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	612					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAGGCACTTCGGGACAACTC	0.547000													16	159					3.45872e-05	3.62186e-05	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88965282	88965282	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr7:88965282G>A	ENST00000333190.4	+	4	3595	c.2986G>A	c.(2986-2988)Gca>Aca	p.A996T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	996						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAAGACAGTGCAATTCCAAG	0.373000										HNSCC(36;0.09)			14	216					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)		CAGGAACTGTTACACATGTAG	0.572000		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)			18	30					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426726	212426726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:212426726G>A	ENST00000342788.4	-	20	2699	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q787*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q797*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	797	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGCATAAGTTGAGTAACCAGC	0.488000										TSP Lung(8;0.080)			16	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089203	9089203	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:9089203T>C	ENST00000397910.4	-	1	2815	c.2612A>G	c.(2611-2613)aAt>aGt	p.N871S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	871	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGATGGATTCGAAGTTTC	0.488000													10	62					0	0	1	0	0
LOC202181	202181	broad.mit.edu	37	5	177059130	177059130	+	RNA	SNP	T	T	G	rs6886539	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr5:177059130T>G	ENST00000515045.1	-	0	798					NR_026921.1																						CTTGAGGTGGTTGAGTTAGAG	0.542000													3	26					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519999	52519999	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:52519999C>A	ENST00000270649.6	-	5	1396	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TATAGGATTTCTCTTCTGTAT	0.383000													29	98					4.22769e-11	4.60073e-11	1	1	0
AP3D1	8943	broad.mit.edu	37	19	2132553	2132553	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:2132553C>T	ENST00000355272.6	-	5	585	c.379G>A	c.(379-381)Gac>Aac	p.D127N	AP3D1_ENST00000345016.5_Missense_Mutation_p.D127N|AP3D1_ENST00000356926.4_Missense_Mutation_p.D127N|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	127					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCTGTGTCGTACTGGCTG	0.597000													9	83					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56420405	56420405	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:56420405G>A	ENST00000370754.5	-	60	14780	c.14781C>T	c.(14779-14781)agC>agT	p.S4927S	DST_ENST00000421834.2_Silent_p.S2661S|DST_ENST00000370788.2_Silent_p.S2661S|DST_ENST00000361203.3_Silent_p.S4747S|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.S2335S|DST_ENST00000370769.4_Silent_p.S4749S|DST_ENST00000446842.2_Silent_p.S4423S			Q03001	DYST_HUMAN	dystonin	4747					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGAAAGGCTTCTCAGCA	0.458000													11	79					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223401022	223401022	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:223401022G>A	ENST00000343846.3	-	6	1608	c.975C>T	c.(973-975)ttC>ttT	p.F325F	SUSD4_ENST00000454695.2_Silent_p.F165F|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.F325F			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	325						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGTTGCCGTGAACGCCACAA	0.587000													3	19					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88924883	88924883	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:88924883C>G	ENST00000277141.6	-	20	3719	c.1295G>C	c.(1294-1296)aGa>aCa	p.R432T	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R81T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R907T			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1143					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATACTTCACTCTGGGATCAAT	0.358000													6	51					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65273249	65273249	+	RNA	SNP	A	A	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:65273249A>C	ENST00000534336.1	+	0	8017					NR_002819.2																						CTCTATTATAATACTTATCCA	0.368000													27	80					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131862836	131862836	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:131862836C>T	ENST00000318080.2	-	7	1232	c.938G>A	c.(937-939)gGc>gAc	p.G313D		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	313					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GAGCCTGCTGCCGCCCCCATG	0.627000													18	50					0	0	1	0	0
UBR7	55148	broad.mit.edu	37	14	93693350	93693350	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:93693350G>C	ENST00000013070.6	+	11	1483	c.1247G>C	c.(1246-1248)aGa>aCa	p.R416T	UBR7_ENST00000416753.1_Missense_Mutation_p.R340T	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	416							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAGAGAAGAAGAGTGGATGGG	0.383000													9	39					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36653381	36653381	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr22:36653381C>G	ENST00000319136.4	+	5	430	c.163C>G	c.(163-165)Cca>Gca	p.P55A	APOL1_ENST00000347595.7_Intron|APOL1_ENST00000426053.1_Missense_Mutation_p.P21A|APOL1_ENST00000397279.4_Missense_Mutation_p.P39A|APOL1_ENST00000422706.1_Missense_Mutation_p.P39A|APOL1_ENST00000397278.3_Missense_Mutation_p.P39A|APOL1_ENST00000440669.2_Missense_Mutation_p.P39A	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	39					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ACAAAACGTTCCAAGTGGGAC	0.562000													12	62					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104879599	104879599	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:104879599A>C	ENST00000393141.2	-	2	186	c.155T>G	c.(154-156)gTg>gGg	p.V52G	CASP5_ENST00000260315.3_Missense_Mutation_p.V39G|CASP5_ENST00000526056.1_Missense_Mutation_p.V52G|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.V6G|CASP5_ENST00000418434.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	39					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTGTCCAGCCACGTTGTTCTT	0.373000													21	77					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94068105	94068105	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:94068105G>A	ENST00000369303.4	-	4	1041	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	286	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGAGAGGAAGACTTGTAGAA	0.403000													3	32					0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125047560	125047560	+	Silent	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:125047560C>T	ENST00000344641.3	+	4	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	MRRF_ENST00000373723.4_Silent_p.F151F|MRRF_ENST00000546115.1_Silent_p.F151F|MRRF_ENST00000373727.1_Silent_p.F151F|MRRF_ENST00000373728.1_Silent_p.F151F|MRRF_ENST00000394315.3_Silent_p.F151F|MRRF_ENST00000373729.1_Silent_p.F107F|MRRF_ENST00000373730.3_Silent_p.F151F|MRRF_ENST00000297908.3_Silent_p.F99F	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	151					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TGGCCAGCTTCCCAGAGGTAA	0.478000													7	100					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131868	40131868	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:40131868C>T	ENST00000235628.1	-	2	175	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	59					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAACAAGGCTCGGGAGGACAC	0.582000													6	47					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112323725	112323725	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:112323725T>A	ENST00000550735.2	+	10	1610	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L285Q	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	285	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CACAGGCTCCTGAAGGTCAAA	0.552000													10	60					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56765377	56765377	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:56765377C>T	ENST00000370754.5	-	3	258	c.259G>A	c.(259-261)Gcg>Acg	p.A87T				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGCGGCCGCTGCAACTCGT	0.493000													20	89					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7084997	7084997	+	RNA	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:7084997A>G	ENST00000546220.1	+	0	791				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TTCTGAAACCAGAAACTGTTG	0.493000													13	75					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204234159	204234159	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:204234159C>G	ENST00000272203.3	-	6	608	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E98Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	98	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGATACTCTCTTCCTTCTCA	0.592000													19	77					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													4	63					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96408047	96408047	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:96408047G>A	ENST00000359246.4	+	4	803	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	146					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CACGTTCTATGTCAGTGACGT	0.622000													15	70					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49131018	49131018	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:49131018G>A	ENST00000443164.1	+	2	1472	c.767G>A	c.(766-768)gGc>gAc	p.G256D	SPHK2_ENST00000245222.4_Missense_Mutation_p.G194D|SPHK2_ENST00000601712.1_Missense_Mutation_p.G158D|SPHK2_ENST00000600537.1_Missense_Mutation_p.G135D|SPHK2_ENST00000340932.3_Missense_Mutation_p.G158D|SPHK2_ENST00000599748.1_Missense_Mutation_p.G158D|SPHK2_ENST00000599029.1_Missense_Mutation_p.G158D|SPHK2_ENST00000598088.1_Missense_Mutation_p.G194D			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	194	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	p.G194D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGGTCGGGGCCTGGCCTGG	0.592000													32	114					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40363463	40363463	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:40363463C>G	ENST00000397332.2	-	3	890	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372816.2_Missense_Mutation_p.E226Q	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GAAGCCTCTTCTTGGGAGCAG	0.537000													34	180					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113480	59113480	+	Silent	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:59113480C>T	ENST00000395153.3	+	4	2175	c.2028C>T	c.(2026-2028)taC>taT	p.Y676Y	DACT1_ENST00000541264.2_Silent_p.Y432Y|DACT1_ENST00000556859.1_Silent_p.Y432Y|DACT1_ENST00000335867.4_Silent_p.Y713Y|DACT1_ENST00000395151.3_Silent_p.Y432Y	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	713					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTCTGCCCTACGCCAGCCCCT	0.672000													14	64					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865466	118865466	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:118865466G>A	ENST00000295622.1	+	1	470	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	144										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGAACTGCTGAACAGACTGA	0.488000													13	55					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750523	30750523	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:30750523C>G	ENST00000262518.4	+	34	9547	c.9162C>G	c.(9160-9162)tcC>tcG	p.S3054S	SRCAP_ENST00000395059.2_Silent_p.S2992S|SRCAP_ENST00000344771.4_Silent_p.S2896S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3054					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGGTAGTTCCTCTGATGAGG	0.632000													12	48					0	0	1	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44029016	44029016	+	RNA	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:44029016C>G	ENST00000381680.2	-	0	768					NR_002318.2																						AACGAACCCTCAGGATCTCTA	0.368000													19	62					0	0	1	0	0
SNRNP25	79622	broad.mit.edu	37	16	107117	107117	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:107117T>C	ENST00000383018.3	+	5	534	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L		NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	125	Ubiquitin-like.				mRNA processing	U12-type spliceosomal complex				large_intestine(1)|lung(2)	3						CGAGGTTTCCTTCATCAAAAA	0.507000													37	150					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50863262	50863262	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:50863262G>T	ENST00000395562.2	+	13	1979	c.1510G>T	c.(1510-1512)Gac>Tac	p.D504Y	CHAT_ENST00000351556.3_Missense_Mutation_p.D468Y|CHAT_ENST00000339797.1_Missense_Mutation_p.D468Y|CHAT_ENST00000337653.2_Missense_Mutation_p.D586Y|CHAT_ENST00000455728.2_Missense_Mutation_p.D468Y|CHAT_ENST00000395559.2_Missense_Mutation_p.D468Y	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	586					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGCCGTGACTGACCACAAGGC	0.637000													10	116					2.17888e-05	2.30338e-05	1	1	0
DLX3	1747	broad.mit.edu	37	17	48072347	48072347	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:48072347C>A	ENST00000434704.2	-	1	241	c.16G>T	c.(16-18)Gat>Tat	p.D6Y		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGCTTGCGATCGAAGGAGCCA	0.647000													5	30					0.00116845	0.0012009	1	1	0
EYS	346007	broad.mit.edu	37	6	66054005	66054005	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:66054005C>T	ENST00000503581.1	-	10	2062	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	EYS_ENST00000370621.3_Missense_Mutation_p.E509K|EYS_ENST00000393380.2_Missense_Mutation_p.E509K|EYS_ENST00000370616.2_Missense_Mutation_p.E509K|EYS_ENST00000370618.3_Missense_Mutation_p.E509K|EYS_ENST00000342421.5_Missense_Mutation_p.E509K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	509					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGCATCTTCAGTGCAGTTT	0.353000													7	76					0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198288545	198288545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:198288545C>T	ENST00000367385.4	+	10	1144	c.802C>T	c.(802-804)Cga>Tga	p.R268*	NEK7_ENST00000538004.1_Nonsense_Mutation_p.R268*	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	268	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TTCACAGCTCCGACAGTTAGT	0.378000													3	27					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787621	109787622	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:109787621_109787622insA	ENST00000230122.3	-	7	1693_1694	c.1526_1527insT	c.(1525-1527)taafs	p.*509fs		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			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)		TATGAATTTTCAAGTGAGCCTT	0.450													27	112	---	---	---	---					
CBWD3	445571	broad.mit.edu	37	9	70900911	70900912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:70900911_70900912insA	ENST00000360171.6	+	11	1322_1323	c.771_772insA	c.(769-774)caaaaafs	p.QK257fs	CBWD3_ENST00000377342.5_Frame_Shift_Ins_p.QK237fs	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	257							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TTAGTTTGCAGAAAAAACTTCA	0.317													5	4	---	---	---	---					
YME1L1	10730	broad.mit.edu	37	10	27408260	27408261	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:27408260_27408261insA	ENST00000326799.3	-	15	1848_1849	c.1700_1701insT	c.(1699-1701)aaafs	p.K567fs	YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.K477fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.K510fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	567					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCAGCTCCTTCATGGTAACCAT	0.386													26	120	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs141435934		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:66321927_66321928insA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.540													3	5	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cca>cc	p.PP74del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601													7	566	---	---	---	---					
DHRS4	10901	broad.mit.edu	37	14	24424399	24424400	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:24424399_24424400insC	ENST00000313250.5	+	2	487_488	c.284_285insC	c.(283-285)gcgfs	p.A95fs	DHRS4_ENST00000558581.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000558263.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397073.2_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000543741.2_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000421831.1_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000397074.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397075.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000382761.3_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000308178.8_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000559632.1_Frame_Shift_Ins_p.A95fs	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	95						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AAGGCGGAGGACCGGGAGCGGC	0.668													7	51	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs144931984	by1000genomes	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607																											TAAATGaaaataaaaaaataaa	0.302													3	4	---	---	---	---					
SUZ12P1	440423	broad.mit.edu	37	17	29062327	29062327	+	RNA	DEL	T	T	-			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:29062327delT	ENST00000582557.1	+	0	946																											TGTTATTAGCTTTTTTTTTTT	0.408													2	4	---	---	---	---					
