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
ZNF91	7644	broad.mit.edu	37	19	23544385	23544385	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:23544385C>G	ENST00000300619.7	-	4	1601	c.1396G>C	c.(1396-1398)Gaa>Caa	p.E466Q	ZNF91_ENST00000397082.2_Missense_Mutation_p.E434Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTTACATTTG	0.378000													8	66					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15582727	15582727	+	Silent	SNP	C	C	T	rs147572500		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:15582727C>T	ENST00000292609.4	-	3	1446	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	PGLYRP2_ENST00000340880.4_Silent_p.T439T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	439					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCAGCCTTGCGTGTCCTGGT	0.672000													10	51					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723545	49723545	+	Missense_Mutation	SNP	G	G	A	rs4052562		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:49723545G>A	ENST00000449682.2	-	9	1458	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	352					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667000													3	27					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447081	22447081	+	RNA	SNP	A	A	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:22447081A>C	ENST00000390443.3	+	0	282																											ACCAGAGCCCAGTCTGTGACC	0.458000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	194					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025841	31025841	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:31025841G>A	ENST00000355537.3	+	3	2405	c.2258G>A	c.(2257-2259)tGc>tAc	p.C753Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	753					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGAAGGACTGCCCGTACTGT	0.597000													31	143					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152813367	152813367	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:152813367C>T	ENST00000370186.1	+	7	1317	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	ATP2B3_ENST00000359149.3_Missense_Mutation_p.R345W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R331W|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R345W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R331W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R345W			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	345					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAGGAGCGGGAGAAGAA	0.582000													23	49					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			30	66					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGCCGAGGTGGCCGGTTACT	0.612000													5	56					5.18039e-06	5.54077e-06	1	1	0
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483000													3	34					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414628	105414628	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105414628G>T	ENST00000333244.5	-	7	7279	c.7160C>A	c.(7159-7161)cCa>cAa	p.P2387Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2387						nucleus		p.K2385fs*18(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGCCCTCTGGGAGTTTCAC	0.637000													36	292					8.73648e-17	1.00429e-16	1	1	0
GRIN3B	116444	broad.mit.edu	37	19	1005239	1005239	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:1005239G>C	ENST00000234389.3	+	3	1758	c.1739G>C	c.(1738-1740)gGc>gCc	p.G580A	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	580					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGTGGCTGGGCGTCTTTGCG	0.677000													5	47					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414354	73414354	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:73414354C>G	ENST00000286657.4	-	3	381	c.345G>C	c.(343-345)ctG>ctC	p.L115L	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	115					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCCAGGCACCAGAGATGTCT	0.463000													13	91					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819604	50819604	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:50819604G>A	ENST00000374115.3	+	1	1258	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	273					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCACGGGCTCGGGCCAACCTG	0.662000													14	59					0	0	1	0	0
C2orf73	129852	broad.mit.edu	37	2	54558137	54558137	+	Splice_Site	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:54558137C>T	ENST00000398634.2	+	1	67	c.26_splice	c.e1+1	p.Q9_splice	C2orf73_ENST00000405749.1_Splice_Site_p.Q9_splice|C2orf73_ENST00000491538.1_3'UTR	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	9										breast(2)	2						AGATAAGCATCAGTAAGTGCT	0.567000													17	43					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30638712	30638712	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:30638712G>A	ENST00000376442.3	-	3	659	c.464C>T	c.(463-465)aCa>aTa	p.T155I		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	155					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TGGCTTCTCTGTCTGCTGTTT	0.567000													19	83					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109520485	109520485	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:109520485G>A	ENST00000257548.5	+	10	978	c.885G>A	c.(883-885)acG>acA	p.T295T	USP30_ENST00000392784.2_Silent_p.T264T	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	295					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.T286T(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCAAGGGAACGTTGAACGGGG	0.453000													17	39					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413483	105413483	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105413483C>A	ENST00000333244.5	-	7	8424	c.8305G>T	c.(8305-8307)Gcc>Tcc	p.A2769S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2769						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCGGGGGCTGTCACTTCC	0.617000													33	256					1.67305e-13	1.90542e-13	1	1	0
LGSN	51557	broad.mit.edu	37	6	63995530	63995530	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:63995530C>T	ENST00000370658.5	-	3	325	c.292G>A	c.(292-294)Gtg>Atg	p.V98M	LGSN_ENST00000370657.4_Missense_Mutation_p.V98M	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	98					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GACCTGGACACGCCGTGGAGG	0.428000													4	25					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100388079	100388079	+	Silent	SNP	T	T	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:100388079T>G	ENST00000341170.4	-	3	748	c.366A>C	c.(364-366)tcA>tcC	p.S122S	TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	122										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAAGACTCTTTGAGGTGCTCA	0.433000													18	94					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887079	55887079	+	Silent	SNP	T	T	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:55887079T>A	ENST00000379662.1	+	1	933	c.933T>A	c.(931-933)atT>atA	p.I311I	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Silent_p.I306I			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCAAAAAAATTGCATTTCGTT	0.289000													8	16					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054703	106054703	+	RNA	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:106054703C>T	ENST00000390539.2	-	0	29																											CGAGGCTCAGCGGGAAGACCT	0.637000													25	139					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334148	21334148	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:21334148C>T	ENST00000359039.4	-	1	1231	c.711G>A	c.(709-711)atG>atA	p.M237I	KLHL9_ENST00000537938.1_Missense_Mutation_p.M169I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	237	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GAATATTCTTCATTAACTTTG	0.423000													4	61					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079860	44079860	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:44079860C>G	ENST00000272286.2	+	6	907	c.817C>G	c.(817-819)Cgc>Ggc	p.R273G		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	273	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCACCAGCCTCGCTCTGACAT	0.592000													4	72					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49008082	49008082	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:49008082G>A	ENST00000356401.4	+	8	1054	c.715G>A	c.(715-717)Gta>Ata	p.V239I	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.V239I	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	239					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GGTTATTCGGGTACAGGAGCC	0.547000													4	86					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968276	87968276	+	Silent	SNP	T	T	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:87968276T>G	ENST00000369577.3	+	8	4972	c.4929T>G	c.(4927-4929)gcT>gcG	p.A1643A	ZNF292_ENST00000339907.4_Silent_p.A1638A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CACCTAACGCTTCCCAAAACT	0.383000													7	31					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184606264	184606264	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:184606264C>G	ENST00000334690.6	+	16	1797	c.1595C>G	c.(1594-1596)tCt>tGt	p.S532C	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S532C|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S138C	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	532																	GACCAGAAGTCTCGGATAGAA	0.299000													5	20					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493653	86493653	+	Missense_Mutation	SNP	C	C	A	rs144561011	by1000genomes	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:86493653C>A	ENST00000439827.1	+	5	1726	c.1555C>A	c.(1555-1557)Cac>Aac	p.H519N	GRM3_ENST00000361669.2_Silent_p.S874S|GRM3_ENST00000546348.1_Silent_p.S466S|GRM3_ENST00000394720.2_Missense_Mutation_p.H517N|GRM3_ENST00000536043.1_Silent_p.S746S			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTCGACTCCACCACCTCAT	0.473000													12	135					0.00185496	0.00188562	1	1	0
DUSP6	1848	broad.mit.edu	37	12	89745800	89745800	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:89745800C>A	ENST00000279488.7	-	1	1248	c.17G>T	c.(16-18)aGa>aTa	p.R6I	DUSP6_ENST00000308385.6_Missense_Mutation_p.R6I	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	6					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GGGCACGGGTCTGAGCGTATC	0.677000													5	136					1.23904e-05	1.30258e-05	1	1	0
APBB1	322	broad.mit.edu	37	11	6422634	6422634	+	Missense_Mutation	SNP	C	C	T	rs144723218		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr11:6422634C>T	ENST00000389906.2	-	10	1628	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	APBB1_ENST00000530885.1_Missense_Mutation_p.R288H|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R508H|APBB1_ENST00000299402.6_Missense_Mutation_p.R508H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	510					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TACCAAGCAGCGGGCATTACG	0.562000													13	37					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415385	105415385	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105415385G>T	ENST00000333244.5	-	7	6522	c.6403C>A	c.(6403-6405)Ctg>Atg	p.L2135M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2135						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCCCTGCAGATGCGCACTA	0.582000													57	160					2.80097e-13	3.16072e-13	1	1	0
CCNE1	898	broad.mit.edu	37	19	30308111	30308111	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:30308111A>G	ENST00000262643.3	+	5	527	c.248A>G	c.(247-249)gAt>gGt	p.D83G	CCNE1_ENST00000357943.5_Missense_Mutation_p.D83G|CCNE1_ENST00000444983.2_Missense_Mutation_p.D68G	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	83					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AAAGAAGATGATGACCGGGTT	0.522000			A		serous ovarian								9	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	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)			11	67					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24985573	24985573	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:24985573G>A	ENST00000405141.1	+	23	4794	c.4083G>A	c.(4081-4083)ctG>ctA	p.L1361L	NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000348332.3_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000406961.1_Silent_p.L1361L|NCOA1_ENST00000395856.3_Silent_p.L1361L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1361									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGCACTGAGACACACAG	0.398000			T	PAX3	alveolar rhadomyosarcoma								30	244					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689276	21689276	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:21689276G>A	ENST00000398485.2	+	3	1051	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	PAX1_ENST00000444366.2_Missense_Mutation_p.A309T|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	333					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGCCTTCCCCGCCACCCCCGC	0.612000													13	75					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226454	79226454	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:79226454G>A	ENST00000374759.3	-	13	1869	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	SLC38A10_ENST00000288439.5_Missense_Mutation_p.R496C	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	496					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCTCGTGGCGGTGGGCCTCG	0.627000													12	52					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918188	51918188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:51918188C>T	ENST00000356298.5	-	8	1621	c.1505G>A	c.(1504-1506)tGg>tAg	p.W502*	SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.W502*|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.W444*|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	502					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTGTTGGCCCAGGGCCCGGC	0.692000													22	76					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206822161	206822161	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:206822161C>T	ENST00000367106.1	+	4	2031	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	DYRK3_ENST00000367108.3_Missense_Mutation_p.R520W|DYRK3_ENST00000367109.2_Missense_Mutation_p.R540W|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	540	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCAGGGAAACGGGTAGTTAA	0.493000													8	42					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095964	178095964	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:178095964C>G	ENST00000397062.3	-	5	1921	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	NFE2L2_ENST00000464747.1_Missense_Mutation_p.R440T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R433T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R440T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	456					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAGTTCATCTCTTGTGAGATG	0.438000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			11	84					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196668	8196668	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:8196668C>G	ENST00000162391.3	+	5	1744	c.599C>G	c.(598-600)tCt>tGt	p.S200C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S200C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	200					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		AGCCCCACATCTATAGCCAGC	0.537000													13	112					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105404671	105404671	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105404671G>A	ENST00000333244.5	-	7	17236	c.17117C>T	c.(17116-17118)tCa>tTa	p.S5706L	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S704L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5706						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTAGGAGATGAGGAGAACCC	0.473000													3	20					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323362	43323362	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:43323362C>G	ENST00000361428.2	-	4	1787	c.1710G>C	c.(1708-1710)ctG>ctC	p.L570L	ZNF318_ENST00000318149.3_Silent_p.L570L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	570					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAAGACGGCAGGGAGCTTG	0.473000													32	67					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27195954	27195954	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:27195954C>T	ENST00000242159.3	-	1	344	c.211G>A	c.(211-213)Ggc>Agc	p.G71S		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	71					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCGCCCAGGCCGTAGCCGGAC	0.667000													15	76					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420226	105420226	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105420226G>C	ENST00000333244.5	-	7	1681	c.1562C>G	c.(1561-1563)tCa>tGa	p.S521*	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	521						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCCGCTTTTGAGGACGCATC	0.537000													22	126					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148903853	148903853	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:148903853A>T	ENST00000262085.3	+	3	756	c.651A>T	c.(649-651)gaA>gaT	p.E217D	ZNF282_ENST00000479907.1_Missense_Mutation_p.E217D	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	217	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ACTTGGACGAATGGCAGAAGG	0.483000													5	131					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106109690	106109690	+	RNA	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:106109690C>T	ENST00000390545.2	-	0	830																											CGTCGGAGTCCAGCATGGGAG	0.587000													34	403					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42680826	42680826	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:42680826G>T	ENST00000232978.8	+	13	3818	c.3630G>T	c.(3628-3630)aaG>aaT	p.K1210N	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1210					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GTACCGGGAAGAAGGAGGTGG	0.522000													9	63					1.12685e-05	1.19485e-05	1	1	0
ZSCAN16	80345	broad.mit.edu	37	6	28093443	28093443	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:28093443C>T	ENST00000340487.4	+	2	371	c.222C>T	c.(220-222)tgC>tgT	p.C74C	RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	74	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCCAGAATGCCACACCAAGG	0.547000													5	166					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021794	132021794	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:132021794C>T	ENST00000356920.5	+	15	2860	c.2766C>T	c.(2764-2766)gaC>gaT	p.D922D	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	922	Actin-like.						ATP binding										TTGCCCTGGACTTCGAGCAGG	0.592000													28	302					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263052	248263052	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:248263052C>G	ENST00000366478.2	+	3	712	c.375C>G	c.(373-375)atC>atG	p.I125M	OR2L13_ENST00000358120.2_Missense_Mutation_p.I125M	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATTTGGCCATCTGCCACTCTC	0.502000													5	231					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88459093	88459093	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:88459093C>T	ENST00000372056.4	+	8	1182	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.H319Y|LDB3_ENST00000372066.3_Missense_Mutation_p.H272Y|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Intron	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN	LIM domain binding 3	0						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAACTGGCACCATGGCCTTTC	0.517000													17	99					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20550730	20550730	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:20550730G>T	ENST00000504154.1	+	24	2720	c.2468G>T	c.(2467-2469)gGa>gTa	p.G823V	SLIT2_ENST00000503823.1_Missense_Mutation_p.G815V|SLIT2_ENST00000503837.1_Missense_Mutation_p.G819V|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.G827V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	823					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTTTGATGGATTAAAGTCT	0.363000													6	19					8.12818e-05	8.4014e-05	1	1	0
KCTD13	253980	broad.mit.edu	37	16	29918258	29918258	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:29918258G>A	ENST00000568000.1	-	6	1926	c.925C>T	c.(925-927)Cat>Tat	p.H309Y		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	309					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGCCGGACATGGATCCTGCGG	0.637000													22	92					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30403060	30403060	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr21:30403060C>T	ENST00000334352.4	+	4	437	c.206C>T	c.(205-207)cCt>cTt	p.P69L	USP16_ENST00000399976.2_Missense_Mutation_p.P69L|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.P69L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	69					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GAAGAAAAGCCTTCAGTTTGG	0.348000													11	74					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474630	140474630	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr5:140474630T>A	ENST00000194155.4	+	1	404	c.256T>A	c.(256-258)Ttg>Atg	p.L86M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		86	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGGATTTGTTGTTAAA	0.507000													19	69					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56585544	56585544	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:56585544G>A	ENST00000323456.5	-	8	767	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	MTMR4_ENST00000579925.1_Missense_Mutation_p.R215W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	215	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGGGAATCCGCTTCCAGGAG	0.517000													5	52					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41513816	41513816	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:41513816G>T	ENST00000263253.7	+	2	1939	c.720G>T	c.(718-720)caG>caT	p.Q240H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	240					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGGCCCCCAGCCTCTTAAGG	0.502000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				9	27					1.76689e-08	1.95791e-08	1	1	0
SLC18A1	6570	broad.mit.edu	37	8	20005172	20005172	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr8:20005172C>T	ENST00000440926.1	-	15	1742	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	SLC18A1_ENST00000519026.1_Silent_p.S392S|SLC18A1_ENST00000437980.1_Silent_p.S424S|SLC18A1_ENST00000276373.5_Silent_p.S424S|SLC18A1_ENST00000381608.4_Silent_p.S424S|SLC18A1_ENST00000265808.7_Silent_p.S392S	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	424					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TCCCATACACCGAGGTGTGGC	0.557000													6	26					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179138709	179138709	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:179138709G>A	ENST00000232564.3	-	3	350	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	GNB4_ENST00000468623.1_Missense_Mutation_p.R22W	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	22					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATGCTTTCCGAGCATCCTGA	0.299000													5	17					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111594274	111594274	+	Silent	SNP	T	T	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr11:111594274T>C	ENST00000304987.3	+	15	2375	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	734					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGGCCTATTTTAATCAGATGC	0.502000													25	143					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406038	105406038	+	Silent	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105406038G>T	ENST00000333244.5	-	7	15869	c.15750C>A	c.(15748-15750)ctC>ctA	p.L5250L	AHNAK2_ENST00000557457.1_Silent_p.L248L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5250						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGCCTCTGGGAGCTGTAGGG	0.517000													53	282					2.47907e-22	2.87665e-22	1	1	0
ROS1	6098	broad.mit.edu	37	6	117650502	117650502	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:117650502G>A	ENST00000368508.3	-	32	5554	c.5356C>T	c.(5356-5358)Ctt>Ttt	p.L1786F	ROS1_ENST00000368507.3_Missense_Mutation_p.L1780F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1786	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTATCTCAAGGATATAGTAT	0.308000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	38					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811019	23811019	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr15:23811019G>A	ENST00000314520.3	+	1	566	c.90G>A	c.(88-90)ccG>ccA	p.P30P	MKRN3_ENST00000568252.1_Silent_p.P30P|MKRN3_ENST00000564592.1_Silent_p.P30P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	30						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCTGGGCCGGACCTTCCCG	0.672000													11	32					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222393	8222393	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:8222393C>T	ENST00000361926.3	+	13	2212	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P701L|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	701					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTTCCGGATCCATCTGGACCC	0.617000													35	88					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151067854	151067854	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:151067854C>G	ENST00000474524.1	+	15	2191	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.S578C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	718					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGATGAATCTTCAAGTCAT	0.448000													70	231					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68265275	68265275	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:68265275C>T	ENST00000473183.2	-	12	2055	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ESRP2_ENST00000565858.1_Missense_Mutation_p.R516Q			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	516	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCCCGATGGCCGGCCCTGTGC	0.542000													4	38					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990816	140990816	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:140990816T>G	ENST00000389484.3	-	91	14710	c.13739A>C	c.(13738-13740)gAt>gCt	p.D4580A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4580					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)		TTTCCTTTCATCAACACTTCC	0.318000										TSP Lung(27;0.18)			6	21					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213406	50213406	+	RNA	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:50213406G>C	ENST00000376025.2	-	0	331							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggccggttctgaggccggctc	0.647000													54	215					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109539885	109539885	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:109539885C>G	ENST00000409271.1	-	6	824	c.381G>C	c.(379-381)ccG>ccC	p.P127P	EDAR_ENST00000376651.1_Silent_p.P127P|EDAR_ENST00000258443.2_Silent_p.P127P			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	127					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGATGTTCCTCGGTCTGTTCT	0.547000													8	114					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627019	108627019	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:108627019T>A	ENST00000264047.2	+	9	1721	c.1445T>A	c.(1444-1446)cTt>cAt	p.L482H	SLC5A7_ENST00000540517.1_Missense_Mutation_p.L377H|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L482H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	482					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTAAAACACTTGCCATGGTT	0.373000													6	69					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554484	18554484	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:18554484C>T	ENST00000251296.1	+	2	546	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	55	Ig-like 1.					extracellular region		p.R55W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGCGCATGCGGGAGATCGT	0.572000													9	62					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47378589	47378589	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:47378589C>T	ENST00000294947.2	-	3	242	c.207G>A	c.(205-207)gtG>gtA	p.V69V	C2orf61_ENST00000445927.2_Silent_p.V69V|CALM2_ENST00000422269.1_5'UTR	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	69								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGGTTGCTATCACTGGATTTA	0.373000													36	94					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410723	105410723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105410723G>A	ENST00000333244.5	-	7	11184	c.11065C>T	c.(11065-11067)Cag>Tag	p.Q3689*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3689						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAAGGGGGCTGAATGCTGAGG	0.642000													30	264					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288115	57288115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:57288115C>T	ENST00000543872.2	+	2	967	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q235*|SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q235*|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	235					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGGCTGAGACAGAAGGTCCT	0.473000													7	61					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95218960	95218960	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:95218960G>T	ENST00000005178.5	-	7	960	c.763C>A	c.(763-765)Cta>Ata	p.L255I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	255	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACCTTAAATAGTTCAAAGAGC	0.284000													4	103					0.014758	0.014879	1	1	0
UBR7	55148	broad.mit.edu	37	14	93685022	93685022	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:93685022G>A	ENST00000013070.6	+	7	987	c.751G>A	c.(751-753)Gtt>Att	p.V251I	UBR7_ENST00000416753.1_Missense_Mutation_p.V175I	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	251							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						TGTCCGGGAGGTTAAAGTAGA	0.448000													19	64					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66935717	66935717	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:66935717G>A	ENST00000359742.4	-	3	390	c.150C>T	c.(148-150)ggC>ggT	p.G50G	GRIP1_ENST00000398016.3_Silent_p.G50G|GRIP1_ENST00000286445.7_Silent_p.G50G			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	50					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGACTGTGGAGCCCTTGAATT	0.438000													32	624					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51829572	51829572	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:51829572G>A	ENST00000371733.3	-	23	2421	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	EPS15_ENST00000396122.4_Silent_p.I452I|EPS15_ENST00000371730.2_Silent_p.I641I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	775	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTGGAGTTCCGATCTTTGGTG	0.453000			T	MLL	ALL								11	50					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117005797	117005797	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:117005797G>A	ENST00000356083.3	+	23	3282	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	964	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGTCAGCCTGGCAGGAAGGGG	0.622000													16	23					0	0	1	0	0
KREMEN2	79412	broad.mit.edu	37	16	3016751	3016751	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:3016751C>T	ENST00000572045.1	+	5	900	c.595C>T	c.(595-597)Cct>Tct	p.P199S	KREMEN2_ENST00000575769.1_Missense_Mutation_p.P199S|KREMEN2_ENST00000575885.1_Intron|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000319500.6_Missense_Mutation_p.P199S|KREMEN2_ENST00000303746.5_Missense_Mutation_p.P199S	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	199	WSC.			Missing (in Ref. 2; BAC11365).	Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TTTCGGCCACCCTGGACAGCT	0.711000													7	25					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139355672	139355672	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:139355672C>T	ENST00000313050.7	-	11	5021	c.4948G>A	c.(4948-4950)Gca>Aca	p.A1650T	SEC16A_ENST00000371706.3_Missense_Mutation_p.A1472T|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1472T|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1472T	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1472					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCTTACTTGCAAGTAGCAGA	0.592000													5	9					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123227048	123227048	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:123227048G>T	ENST00000264501.4	+	57	10062	c.9689G>T	c.(9688-9690)gGt>gTt	p.G3230V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3230V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3230V			Q2LD37	K1109_HUMAN	KIAA1109	3230					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAGGAAGCTGGTTCTGATTTT	0.299000													4	27					0.00024832	0.000254528	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	18					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145737553	145737553	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr8:145737553C>T	ENST00000428558.2	-	19	3251	c.3210G>A	c.(3208-3210)ctG>ctA	p.L1070L	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1070					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGTTCTGCGCAGACGGGCCA	0.667000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	25					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35683435	35683435	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:35683435G>C	ENST00000216106.5	+	8	1586	c.1458G>C	c.(1456-1458)atG>atC	p.M486I	HMGXB4_ENST00000444518.2_Missense_Mutation_p.M377I	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	486					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTCCATGAAAGTCAAAG	0.433000													7	22					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133403121	133403121	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:133403121C>G	ENST00000329321.3	+	2	1773	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	435						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGCCCAACTCAGGCGCGAAA	0.522000													4	69					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158284159	158284159	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:158284159G>A	ENST00000296526.7	+	15	2940	c.2615G>A	c.(2614-2616)gGt>gAt	p.G872D	GRIA2_ENST00000264426.9_Missense_Mutation_p.G872D|GRIA2_ENST00000449365.1_Missense_Mutation_p.G825D|GRIA2_ENST00000393815.2_Missense_Mutation_p.G825D|GRIA2_ENST00000507898.1_Missense_Mutation_p.G825D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	872					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATAAGGAAGGTTACAACGTA	0.413000													7	99					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413482	105413482	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105413482G>A	ENST00000333244.5	-	7	8425	c.8306C>T	c.(8305-8307)gCc>gTc	p.A2769V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2769						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCGGGGGCTGTCACTTC	0.617000													33	251					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													4	81					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414045	105414045	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105414045G>A	ENST00000333244.5	-	7	7862	c.7743C>T	c.(7741-7743)ctC>ctT	p.L2581L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2581						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGGCCCTTGAGGTCCATTT	0.617000													37	271					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813331	248813331	+	Silent	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:248813331G>C	ENST00000344889.3	-	1	854	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L285L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGTGGATTGAGCATGGGAG	0.502000													12	48					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374209	23374209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:23374209G>A	ENST00000359890.3	-	9	934	c.739C>T	c.(739-741)Cga>Tga	p.R247*	RBM23_ENST00000542016.2_Nonsense_Mutation_p.R77*|RBM23_ENST00000399922.2_Nonsense_Mutation_p.R231*|RBM23_ENST00000346528.5_Nonsense_Mutation_p.R213*|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	247					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCTGCCAGTCGGTTTTTCTCT	0.512000													22	137					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419160	105419160	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105419160G>A	ENST00000333244.5	-	7	2747	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	876						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTGGCCTTGAGGTCCCCCT	0.657000													38	266					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82538324	82538324	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:82538324G>A	ENST00000423517.2	-	8	13643	c.13306C>T	c.(13306-13308)Cat>Tat	p.H4436Y	PCLO_ENST00000333891.8_Missense_Mutation_p.H4436Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4367	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGACGCAGATGATAGGCTTTG	0.458000													4	40					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852274	15852274	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:15852274C>G	ENST00000305892.1	+	1	72	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCAGCAGCTCCTGCCTGTCT	0.483000													4	180					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40269510	40269510	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:40269510C>T	ENST00000225916.5	-	10	1586	c.1533G>A	c.(1531-1533)aaG>aaA	p.K511K		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	511	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCCGGTTGGCCTTGGGCGTCA	0.637000													8	41					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107412532	107412532	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:107412532T>A	ENST00000340010.5	-	18	2213	c.2029A>T	c.(2029-2031)Atc>Ttc	p.I677F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.I564F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	677	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTACCTTGATCCTGATAAAT	0.333000													11	19					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199306	42199306	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:42199306G>A	ENST00000373100.1	+	8	870	c.410G>A	c.(409-411)aGg>aAg	p.R137K	SGK2_ENST00000341458.4_Missense_Mutation_p.R197K|SGK2_ENST00000423407.3_Missense_Mutation_p.R137K|SGK2_ENST00000373077.1_Missense_Mutation_p.R136K|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000426287.1_Missense_Mutation_p.R163K|SGK2_ENST00000373092.3_Missense_Mutation_p.R137K			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	197	Protein kinase.			Missing (in Ref. 4; CAI42315).	intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCCGGGCCAGGTTCTACGCT	0.632000													8	92					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065128	23065128	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:23065128C>T	ENST00000246006.4	-	1	1849	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	568					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTGTGGCCACGGAGGAGTCC	0.637000													6	118					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254036	155254036	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:155254036C>T	ENST00000357232.3	-	9	1826	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	DCHS2_ENST00000339452.1_Silent_p.A1108A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	609	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGTGGGTGCGCCTGTGTTT	0.552000													5	41					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186392952	186392952	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:186392952C>G	ENST00000232003.4	+	6	794	c.714C>G	c.(712-714)gtC>gtG	p.V238V		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	238	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AAAACCTTGTCATAAACTGTG	0.438000													4	281					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617000													24	147					7.38237e-10	8.25483e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179422111	179422111	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:179422111C>T	ENST00000589042.1	-	329	88102	c.87878G>A	c.(87877-87879)cGc>cAc	p.R29293H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27652H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26725H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20420H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20228H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20353H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27652	Ig-like 134.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAGTTGTGCGGATGACCAG	0.433000													15	73					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21490276	21490276	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:21490276G>A	ENST00000556147.1	-	5	1229	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	NDRG2_ENST00000403829.3_Missense_Mutation_p.R93W|NDRG2_ENST00000397847.2_Missense_Mutation_p.R97W|NDRG2_ENST00000555158.1_Missense_Mutation_p.R83W|NDRG2_ENST00000397851.2_Missense_Mutation_p.R97W|NDRG2_ENST00000554104.1_Missense_Mutation_p.R10W|NDRG2_ENST00000397853.3_Missense_Mutation_p.R97W|NDRG2_ENST00000553503.1_Missense_Mutation_p.R83W|NDRG2_ENST00000298684.5_Missense_Mutation_p.R83W|NDRG2_ENST00000397844.2_Missense_Mutation_p.R83W|NDRG2_ENST00000397856.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397855.3_Missense_Mutation_p.R83W|NDRG2_ENST00000350792.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397858.1_Missense_Mutation_p.R97W|NDRG2_ENST00000298687.5_Missense_Mutation_p.R97W|NDRG2_ENST00000554143.1_Missense_Mutation_p.R83W|NDRG2_ENST00000360463.3_Missense_Mutation_p.R83W			Q9UN36	NDRG2_HUMAN	NDRG family member 2	97					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACATGAACCCGCACAAAGTTC	0.483000													4	147					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119059244	119059244	+	Silent	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:119059244G>T	ENST00000296499.5	+	5	1663	c.1260G>T	c.(1258-1260)gtG>gtT	p.V420V	NDST3_ENST00000433996.2_Silent_p.V339V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	420	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GCTACGCTGTGGCCCCTCACC	0.453000													9	57					6.40141e-05	6.67266e-05	1	1	0
TLR9	54106	broad.mit.edu	37	3	52255722	52255722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:52255722G>A	ENST00000494383.1	-	5	3069	c.3070C>T	c.(3070-3072)Cga>Tga	p.R1024*	TLR9_ENST00000360658.2_Silent_p.Y870Y|TLR9_ENST00000597542.1_Silent_p.Y894Y			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CGAAGGCATCGTAGGGCAGGG	0.652000													48	73					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37605971	37605971	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr13:37605971G>A	ENST00000360252.4	-	11	1019	c.772C>T	c.(772-774)Cct>Tct	p.P258S	SUPT20H_ENST00000475892.1_Missense_Mutation_p.P257S|SUPT20H_ENST00000350612.6_Missense_Mutation_p.P257S|SUPT20H_ENST00000356185.3_Missense_Mutation_p.P258S|SUPT20H_ENST00000464744.1_Missense_Mutation_p.P258S|SUPT20H_ENST00000542180.1_Missense_Mutation_p.P245S	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGAGGAGGAGGTGGACAATGA	0.378000													13	40					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288916	216288916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:216288916G>T	ENST00000354785.4	-	8	1538	c.1169C>A	c.(1168-1170)tCg>tAg	p.S390*	FN1_ENST00000346544.3_Nonsense_Mutation_p.S390*|FN1_ENST00000323926.6_Nonsense_Mutation_p.S390*|FN1_ENST00000345488.5_Nonsense_Mutation_p.S390*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S390*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S390*|FN1_ENST00000426059.1_Nonsense_Mutation_p.S390*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S390*|FN1_ENST00000446046.1_Nonsense_Mutation_p.S390*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S390*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S390*|FN1_ENST00000359671.1_Nonsense_Mutation_p.S390*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S390*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S390*			P02751	FINC_HUMAN	fibronectin 1	390	Collagen-binding.|Fibronectin type-II 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATAATTCGAAGTTGTGCT	0.512000													20	106					8.10497e-08	8.901e-08	1	1	0
PROCA1	147011	broad.mit.edu	37	17	27031353	27031353	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:27031353C>T	ENST00000301039.2	-	3	521	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PROCA1_ENST00000439862.3_Missense_Mutation_p.E112K|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	138					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACATGCTCCTCCTCCGGT	0.627000													14	262					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135862940	135862940	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:135862940C>T	ENST00000250617.6	-	1	1307	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	34	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CATTTTTCAGCGAGGACTTTA	0.428000													48	77					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419469	105419469	+	Silent	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105419469G>C	ENST00000333244.5	-	7	2438	c.2319C>G	c.(2317-2319)ctC>ctG	p.L773L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	773						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCCTTGAGGTCCACTT	0.627000													40	257					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39120032	39120032	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:39120032G>A	ENST00000355612.2	-	3	590	c.555C>T	c.(553-555)taC>taT	p.Y185Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	185	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CCTCAGCTTCGTATCTTTAAA	0.507000													8	42					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407653	105407653	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105407653G>A	ENST00000333244.5	-	7	14254	c.14135C>T	c.(14134-14136)tCt>tTt	p.S4712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4712						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGGTAGAAGAAAATGAAAC	0.398000													13	62					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926135	50926135	+	Silent	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:50926135C>A	ENST00000595883.1	+	4	205	c.180C>A	c.(178-180)gcC>gcA	p.A60A	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000270632.7_Silent_p.A60A|SPIB_ENST00000597855.1_Silent_p.A60A	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	60	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTATGAAGCCTTCGACCCGG	0.657000													15	141					1.15088e-07	1.25273e-07	1	1	0
GPR115	221393	broad.mit.edu	37	6	47680273	47680273	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:47680273G>A	ENST00000283303.2	+	5	739	c.481G>A	c.(481-483)Gca>Aca	p.A161T	GPR115_ENST00000327753.3_Missense_Mutation_p.A161T|GPR115_ENST00000371220.1_Missense_Mutation_p.A218T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAATATTGCATTTATAGT	0.333000													10	57					0	0	1	0	0
RP13-221M14.3	0	broad.mit.edu	37	1	13164130	13164131	+	RNA	INS	-	-	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:13164130_13164131insA	ENST00000434606.1	-	0	284																											TTTACTGTAACAAAAAAAAAAG	0.515													2	4	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)ttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398													8	407	---	---	---	---					
AC226119.5	0	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													3	4	---	---	---	---					
CCSER1	401145	broad.mit.edu	37	4	91229789	91229789	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:91229789delT	ENST00000509176.1	+	2	642	c.354delT	c.(352-354)ggfs	p.G118fs	CCSER1_ENST00000432775.2_Frame_Shift_Del_p.G118fs|CCSER1_ENST00000333691.8_Frame_Shift_Del_p.G118fs	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATTCTGTTGGTTTTAGTAGTT	0.358													8	34	---	---	---	---					
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	RNA	DEL	TTTG	TTTG	-	rs146473442		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451													4	5	---	---	---	---					
HOTTIP	100316868	broad.mit.edu	37	7	27239774	27239775	+	RNA	DEL	GC	GC	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:27239774_27239775delGC	ENST00000421733.1	+	0	167																											gcggcgcggggccggggcccga	0.733													4	5	---	---	---	---					
UBN2	254048	broad.mit.edu	37	7	138957129	138957130	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:138957129_138957130delAA	ENST00000288561.8	+	9	1658_1659	c.1409_1410delAA	c.(1408-1410)gfs	p.E470fs	UBN2_ENST00000473989.2_Frame_Shift_Del_p.E553fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	553										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCATGCCTGAACAGCTATTTA	0.386													8	91	---	---	---	---					
SECISBP2	79048	broad.mit.edu	37	9	91940847	91940847	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:91940847delG	ENST00000375807.3	+	4	539	c.468delG	c.(466-468)cafs	p.Q157fs	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Frame_Shift_Del_p.Q84fs|SECISBP2_ENST00000534113.2_Frame_Shift_Del_p.Q89fs	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	157					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CGTATGATCAGCAAAAGTTTG	0.343													10	51	---	---	---	---					
ANKRD30BP3	338579	broad.mit.edu	37	10	45652578	45652579	+	RNA	DEL	TA	TA	-	rs3780893	by1000genomes	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:45652578_45652579delTA	ENST00000427229.2	+	0	2092_2093																											AAGGAACATCTAAGATGCTCAC	0.366													2	4	---	---	---	---					
CELSR1	9620	broad.mit.edu	37	22	46793727	46793728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:46793727_46793728insC	ENST00000262738.3	-	12	5543_5544	c.5544_5545insG	c.(5542-5547)ggcgccfs	p.A1849fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1849	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGTGGGCGTCCCCCCCATCC	0.599													9	21	---	---	---	---					
