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
SPEN	23013	broad.mit.edu	37	1	16260826	16260826	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:16260826G>A	ENST00000375759.3	+	11	8295	c.8091G>A	c.(8089-8091)gtG>gtA	p.V2697V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2697	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGCCTGTGAATGTTCTTA	0.597													11	79	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166904684	166904684	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:166904684C>G	ENST00000271417.3	-	6	789	c.734G>C	c.(733-735)gGg>gCg	p.G245A	ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	245						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGAGGGTACCCGGCCTTTGC	0.582													10	25	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33487888	33487888	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:33487888G>T	ENST00000354476.3	+	14	2541	c.2518G>T	c.(2518-2520)Ggt>Tgt	p.G840C	LTBP1_ENST00000404816.2_Splice_Site_p.V840L|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000407925.1_Splice_Site_p.V514L|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L|LTBP1_ENST00000418533.2_Splice_Site_p.V514L	NM_206943.2	NP_996826.2	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	839					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G840S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACAGTTTCCAGGTAGCCTGTG	0.403													10	18	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514462	113514462	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:113514462A>G	ENST00000302450.6	-	4	564	c.486T>C	c.(484-486)tgT>tgC	p.C162C	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	162						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TAAAGTCTATACATTTACCAT	0.343													14	35	---	---	---	---
OR6B2	389090	broad.mit.edu	37	2	240969799	240969799	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:240969799G>A	ENST00000402971.2	-	1	107	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCGTGGGGAGGCCCACCAGGA	0.567													11	31	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171362776	171362776	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr3:171362776G>T	ENST00000356327.5	-	21	2423	c.2353C>A	c.(2353-2355)Ctt>Att	p.L785I	PLD1_ENST00000340989.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.L823I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	823	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCTGGCAGAAGTGGTATCACG	0.423													5	139	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119204214	119204214	+	Missense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:119204214G>C	ENST00000296498.3	-	12	2374	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	698	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCTGGTACCAGAGTATGATAA	0.453													14	167	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155219050	155219050	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:155219050A>G	ENST00000357232.4	-	18	5050	c.5051T>C	c.(5050-5052)tTc>tCc	p.F1684S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 14.				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)		GTGGTGGCTGAAGGAAATCTT	0.443													14	27	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64766898	64766898	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:64766898G>T	ENST00000536360.1	-	3	982	c.169C>A	c.(169-171)Ctc>Atc	p.L57I				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTAAAGCTGAGAAATGCTCCA	0.378													9	50	---	---	---	---
SRP19	6728	broad.mit.edu	37	5	112198210	112198210	+	Missense_Mutation	SNP	T	T	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:112198210T>C	ENST00000505459.1	+	2	202	c.47T>C	c.(46-48)aTt>aCt	p.I16T	CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	16					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GGCAGGTTTATTTGTATCTAT	0.458													5	19	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150908872	150908872	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:150908872G>T	ENST00000261800.5	-	14	9905	c.9893C>A	c.(9892-9894)tCc>tAc	p.S3298Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3298	Cadherin 29.|Poly-Ser.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGAAGAGGAGCTCTTCCG	0.512													39	68	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28269439	28269439	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:28269439G>T	ENST00000405948.2	+	7	2228	c.1808G>T	c.(1807-1809)gGt>gTt	p.G603V	PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	603					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTGGGTTAGGTGGAAATCTA	0.403													43	76	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46826111	46826111	+	Missense_Mutation	SNP	T	T	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:46826111T>A	ENST00000283296.7	-	17	3817	c.3529A>T	c.(3529-3531)Atc>Ttc	p.I1177F	GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1177					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTGCTGGGATGGCGAAAGCC	0.547													5	80	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98522824	98522824	+	Silent	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:98522824G>T	ENST00000359863.4	+	22	3122	c.2913G>T	c.(2911-2913)ctG>ctT	p.L971L	TRRAP_ENST00000355540.3_Silent_p.L971L|TRRAP_ENST00000446306.3_Silent_p.L970L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	971					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATGCTTCCTGGTGGCCATGA	0.562													70	67	---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99621804	99621804	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:99621804A>G	ENST00000324306.6	+	3	688	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	152					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGACCTGAGATGCTCGCAAG	0.488													4	109	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107642017	107642017	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:107642017C>T	ENST00000393561.1	-	1	455	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000222399.6_Missense_Mutation_p.V67I			P07942	LAMB1_HUMAN	laminin, beta 1	67	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTGGCTGACGATACAGTAG	0.652													4	28	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133160106	133160106	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:133160106A>G	ENST00000253861.4	+	8	1236	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V|EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	403					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTACTTGGATATGAAAAATAC	0.358													117	104	---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30472224	30472224	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:30472224A>G	ENST00000355904.4	-	4	549	c.267T>C	c.(265-267)caT>caC	p.H89H		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	89					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTCCTCGCTGATGCCGTGTCT	0.358													13	25	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767002	77767002	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:77767002A>G	ENST00000521891.2	+	10	8293	c.7845A>G	c.(7843-7845)gaA>gaG	p.E2615E	ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000455469.2_Silent_p.E2570E|ZFHX4_ENST00000050961.6_Silent_p.E2570E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2570						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCCCGGAACAGCTGGAAA	0.433										HNSCC(33;0.089)			12	34	---	---	---	---
NR6A1	2649	broad.mit.edu	37	9	127289153	127289153	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr9:127289153A>G	ENST00000487099.2	-	8	1263	c.1106T>C	c.(1105-1107)aTc>aCc	p.I369T	NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	369					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAGCCGCTCGATCACCTCCAT	0.488													19	28	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22634710	22634710	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr10:22634710G>A	ENST00000376603.2	+	2	226	c.84G>A	c.(82-84)gcG>gcA	p.A28A	SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376624.3_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A			O75602	SPAG6_HUMAN	sperm associated antigen 6	28					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CGGAGCTGGCGACTAGACCCC	0.687													4	14	---	---	---	---
B4GALNT4	338707	broad.mit.edu	37	11	373292	373292	+	Splice_Site	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:373292G>C	ENST00000329962.6	+	6	636		c.e6+1			NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4							Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGCAAGGTACCCCCACC	0.627													6	12	---	---	---	---
B4GALNT4	338707	broad.mit.edu	37	11	379668	379668	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:379668C>T	ENST00000329962.6	+	15	2455	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	819						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGGCCTGGCGCCAGGACGT	0.687													3	10	---	---	---	---
TRIM22	10346	broad.mit.edu	37	11	5718478	5718478	+	Splice_Site	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:5718478G>A	ENST00000379965.3	+	3	701	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	142					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTCTTACAGGAAAAGCTGCA	0.458											OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	13	---	---	---	---
GAL3ST3	89792	broad.mit.edu	37	11	65810951	65810951	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:65810951G>T	ENST00000312006.4	-	3	604	c.323C>A	c.(322-324)cCc>cAc	p.P108H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	108					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAAGTTGCGGGGGTAGCAGAA	0.692													11	65	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74013632	74013632	+	Missense_Mutation	SNP	T	T	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:74013632T>G	ENST00000331597.4	-	3	394	c.349A>C	c.(349-351)Aag>Cag	p.K117Q	P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	117						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TAGCCATCCTTCAGAGCTGTA	0.463													5	79	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132305999	132305999	+	Missense_Mutation	SNP	A	A	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:132305999A>T	ENST00000331898.7	-	6	1496	c.918T>A	c.(916-918)aaT>aaA	p.N306K	OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	306	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATGCTGGCATTGGTGTTCC	0.493													15	16	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32138464	32138464	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:32138464G>T	ENST00000312561.4	+	4	4989	c.4575G>T	c.(4573-4575)caG>caT	p.Q1525H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		ACCATTCTCAGGAGTCTAAAA	0.363													17	27	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110456956	110456956	+	Missense_Mutation	SNP	A	A	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:110456956A>C	ENST00000261739.4	+	6	723	c.557A>C	c.(556-558)gAg>gCg	p.E186A	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	186										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTGGGCGGAGTTAATGGAA	0.423													48	90	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35275466	35275466	+	Missense_Mutation	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:35275466C>A	ENST00000356321.4	-	3	514	c.170G>T	c.(169-171)tGt>tTt	p.C57F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACACACATCACATTCAAATGG	0.358													41	54	---	---	---	---
CA12	771	broad.mit.edu	37	15	63638797	63638797	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:63638797G>T	ENST00000178638.3	-	3	658	c.218C>A	c.(217-219)cCc>cAc	p.P73H	CA12_ENST00000344366.3_Missense_Mutation_p.P73H|CA12_ENST00000422263.2_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	73					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GAACTCGAGGGGCGTGAGGCT	0.572													4	55	---	---	---	---
SPN	6693	broad.mit.edu	37	16	29675595	29675595	+	Silent	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr16:29675595C>A	ENST00000360121.3	+	2	638	c.546C>A	c.(544-546)acC>acA	p.T182T	SPN_ENST00000395389.2_Silent_p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	182					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCAAAGGCACCTCTGGACCCC	0.592													41	145	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10296458	10296458	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:10296458C>T	ENST00000403437.2	-	36	5330	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1746					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGATTACTTCTTCCACTTCA	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				45	184	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37243903	37243903	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:37243903G>A	ENST00000315392.4	-	8	1075	c.864C>T	c.(862-864)agC>agT	p.S288S	PLXDC1_ENST00000444911.2_Silent_p.S248S|PLXDC1_ENST00000394316.2_Silent_p.S288S|PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	288					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGTGACCTTGCTGGGGTCCA	0.557													7	22	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66902187	66902187	+	Missense_Mutation	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:66902187G>A	ENST00000269080.2	-	17	2413	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L	ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	759						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTATTTACCCGATTCATTAAT	0.328													29	57	---	---	---	---
APC2	10297	broad.mit.edu	37	19	1465241	1465241	+	Silent	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:1465241C>T	ENST00000535453.1	+	14	3654	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	APC2_ENST00000233607.2_Silent_p.G647G|APC2_ENST00000238483.4_Silent_p.G373G|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	647					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCGTGCGGCACGCTCTGGA	0.647													4	4	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090595	52090595	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:52090595C>G	ENST00000262259.2	+	5	1369	c.1011C>G	c.(1009-1011)tgC>tgG	p.C337W	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	337					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGTATATGCAAGGAATGTG	0.408													13	48	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53643640	53643640	+	Missense_Mutation	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53643640C>A	ENST00000452676.2	-	5	2870	c.2444G>T	c.(2443-2445)gGt>gTt	p.G815V	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.G814V|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGTTTCCCACCAGTATGGAT	0.418													66	154	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53668835	53668835	+	Nonsense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53668835G>C	ENST00000600412.1	-	2	828	c.713C>G	c.(712-714)tCa>tGa	p.S238*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGCAAGGTGTGAATTTTGAGT	0.423													52	179	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55418146	55418146	+	Missense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:55418146G>C	ENST00000594765.1	+	3	361	c.336G>C	c.(334-336)ttG>ttC	p.L112F	NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.L112F			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	112	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCAGCAACTTGCTGGATCTGG	0.522													23	93	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59061121	59061121	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:59061121C>T	ENST00000253024.5	+	14	2289	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	667					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGGAGCTGCTCACTCTGCCAT	0.592													53	73	---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25388520	25388520	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:25388520C>T	ENST00000262460.4	+	1	158	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	22					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGGCAACTGCCTGCCTTCAA	0.677													7	22	---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44514890	44514890	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr21:44514890A>G	ENST00000459639.1	-	5	1162	c.138T>C	c.(136-138)cgT>cgC	p.R46R	U2AF1_ENST00000380276.2_Silent_p.R119R|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_Silent_p.R119R|U2AF1_ENST00000398137.1_Silent_p.R46R			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	119					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CATCTTCCTCACGGCGAAACT	0.448			Mis		"""CLL, MDS"""								3	38	---	---	---	---
C22orf43	51233	broad.mit.edu	37	22	23956371	23956371	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr22:23956371C>G	ENST00000317749.5	-	9	869	c.572G>C	c.(571-573)tGc>tCc	p.C191S		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	191	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTCAGTGAGCATCTTAAAAA	0.453													19	51	---	---	---	---
WAS	7454	broad.mit.edu	37	X	48547130	48547130	+	Missense_Mutation	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:48547130G>A	ENST00000376701.4	+	10	1088	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	338					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AACAAGGGTCGTTCTGGTCCA	0.692			"""Mis, N, F, S"""			lymphoma							8	0	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73811565	73811565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:73811565delG	ENST00000332687.6	-	4	1803	c.1585delC	c.(1585-1587)cttfs	p.L529fs	RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	529					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCAGGCTAAGGAAGGGCAAA	0.478													19	1	---	---	---	---
