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
ATP13A2	23400	broad.mit.edu	37	1	17314833	17314833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:17314833C>T	uc001baa.2	-	23	2936	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	ATP13A2_uc001bac.2_Missense_Mutation_p.V872M|ATP13A2_uc001bab.2_Missense_Mutation_p.V911M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	916					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCATGGGCACGCACTCAATA	0.642												
CNKSR1	10256	broad.mit.edu	37	1	26507077	26507077	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:26507077C>T	uc001bln.4	+	1	244	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	62	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657												
GJB4	127534	broad.mit.edu	37	1	35227182	35227182	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:35227182C>T	uc001bxw.4	+	0	327	c.327C>T	c.(325-327)caC>caT	p.H109H	GJB4_uc001bxv.1_Silent_p.H109H	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	109					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCTGAAACACGGGCCCAATG	0.632												
MYSM1	114803	broad.mit.edu	37	1	59132729	59132729	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:59132729T>C	uc009wab.2	-	15	2035	c.2012A>G	c.(2011-2013)gAc>gGc	p.D671G	MYSM1_uc001cza.3_Missense_Mutation_p.D77G|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	671	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AGCTTGTGTGTCAATATCTCG	0.373												
LRRC7	57554	broad.mit.edu	37	1	70505050	70505050	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:70505050C>T	uc001dep.3	+	18	3459	c.3429C>T	c.(3427-3429)taC>taT	p.Y1143Y	LRRC7_uc009wbg.3_Silent_p.Y427Y|LRRC7_uc001deq.3_Silent_p.Y384Y	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1143						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATAGGTACGGCAGACCCC	0.557												
TTF2	8458	broad.mit.edu	37	1	117603105	117603105	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:117603105C>T	uc001egy.3	+	1	77	c.57C>T	c.(55-57)gtC>gtT	p.V19V	TTF2_uc001egx.1_Silent_p.V19V	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	19					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGACCGGCGTCCGCGATGGCC	0.582												
AQP10	89872	broad.mit.edu	37	1	154294516	154294516	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:154294516C>T	uc001feu.3	+	1	253	c.213C>T	c.(211-213)taC>taT	p.Y71Y		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	71					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGCCATCTACGTGGGTGGTA	0.557												
PIK3C2B	5287	broad.mit.edu	37	1	204410639	204410639	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:204410639T>G	uc001haw.3	-	21	3688	c.3209A>C	c.(3208-3210)aAt>aCt	p.N1070T	PIK3C2B_uc010pqv.2_Missense_Mutation_p.N1042T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1070					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGATCCACATTTTGGAAGGA	0.527												
CHRM3	1131	broad.mit.edu	37	1	240071079	240071079	+	Silent	SNP	C	C	T	rs111407169	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:240071079C>T	uc021plc.1	+	0	328	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	CHRM3_uc001hyp.3_Silent_p.L110L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	110					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCTTAAGCCTGGCCTGTGC	0.478												
AKR1C3	1645	broad.mit.edu	37	10	5014817	5014817	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:5014817T>A	uc001iho.3	+	11	1563	c.722T>A	c.(721-723)cTt>cAt	p.L241H	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.L241H	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	241					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GACCCAGTCCTTTGTGCCTTG	0.592												
SORCS3	22986	broad.mit.edu	37	10	107015536	107015536	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:107015536T>G	uc001kyi.1	+	23	3541	c.3314T>G	c.(3313-3315)gTg>gGg	p.V1105G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1105						integral to membrane	neuropeptide receptor activity	p.V1105L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAGTCATTGTGTATGTCACA	0.438												
MADD	8567	broad.mit.edu	37	11	47307122	47307122	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:47307122G>A	uc001ner.1	+	13	2723	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G|MADD_uc001nex.2_Silent_p.G844G	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	844					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.G844W(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGGCTTCGGGGGCATCATGT	0.532												
OR5T3	390154	broad.mit.edu	37	11	56019879	56019879	+	Silent	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:56019879C>A	uc010rjd.2	+	0	204	c.204C>A	c.(202-204)acC>acA	p.T68T		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCTCTTTACCTTGATAGGCA	0.373												
MS4A3	932	broad.mit.edu	37	11	59834575	59834575	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:59834575C>T	uc001nom.3	+	4	631	c.503C>T	c.(502-504)tCc>tTc	p.S168F	MS4A3_uc001non.3_Missense_Mutation_p.S122F|MS4A3_uc001noo.3_Missense_Mutation_p.S45F	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	168						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TACATGGGCTCCATATCAAAT	0.343												
AHNAK	79026	broad.mit.edu	37	11	62300927	62300927	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:62300927T>G	uc001ntl.3	-	4	1262	c.962A>C	c.(961-963)gAg>gCg	p.E321A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	321					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCTGGCCCTCACGCCCTGT	0.552												
FLRT1	23769	broad.mit.edu	37	11	63884137	63884137	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:63884137A>G	uc021qks.1	+	0	398	c.398A>G	c.(397-399)cAc>cGc	p.H133R	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.H133R	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	105					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CGGGAGCTGCACCTGCAGGAC	0.602												
KAT5	10524	broad.mit.edu	37	11	65482151	65482151	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:65482151C>T	uc001ofi.3	+	7	1043	c.777C>T	c.(775-777)gtC>gtT	p.V259V	KAT5_uc001ofj.3_Silent_p.V207V|KAT5_uc001ofk.3_Silent_p.V292V|KAT5_uc010roo.2_Silent_p.V240V|KAT5_uc001ofl.3_Silent_p.V48V	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	259					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CATTGCCTGTCCTCTACCTGT	0.582												
APOBEC1	339	broad.mit.edu	37	12	7805333	7805333	+	Missense_Mutation	SNP	C	C	T	rs149648198		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:7805333C>T	uc001qtb.3	-	2	177	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	APOBEC1_uc001qtc.3_Missense_Mutation_p.R3Q	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	48					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCAGATCTTCCGGCTCATGCC	0.453												
ATF7IP	55729	broad.mit.edu	37	12	14589059	14589059	+	Missense_Mutation	SNP	A	A	T	rs141409610		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:14589059A>T	uc001rbw.3	+	3	1823	c.1665A>T	c.(1663-1665)aaA>aaT	p.K555N	ATF7IP_uc010shs.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbu.3_Missense_Mutation_p.K555N|ATF7IP_uc001rbv.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbx.3_Missense_Mutation_p.K554N|ATF7IP_uc010sht.1_Missense_Mutation_p.K555N|ATF7IP_uc001rby.4_Missense_Mutation_p.K555N|ATF7IP_uc001rca.3_Missense_Mutation_p.K555N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	555	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTAGACGAAAACGTTCTAAAT	0.348												
FAM113B	91523	broad.mit.edu	37	12	47629951	47629951	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:47629951G>A	uc001rpq.3	+	1	1630	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	FAM113B_uc001rpn.3_Missense_Mutation_p.V369I|FAM113B_uc021qxi.1_Missense_Mutation_p.V369I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	369	Pro-rich.						hydrolase activity	p.F368F(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AGGTTTCTTCGTCGAAGACAA	0.527												
KRT84	3890	broad.mit.edu	37	12	52779219	52779219	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:52779219C>A	uc001sah.1	-	0	199	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	51	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCGACTACCAAAGCTGCCA	0.582												
KRT76	51350	broad.mit.edu	37	12	53164870	53164870	+	Missense_Mutation	SNP	C	C	T	rs143394911	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:53164870C>T	uc001sax.3	-	6	1451	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	466	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGTAGTCACGCAGGAGCCG	0.602												
MMAB	326625	broad.mit.edu	37	12	109994906	109994906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:109994906G>A	uc001tou.3	-	8	753	c.680C>T	c.(679-681)gCa>gTa	p.A227V	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_Missense_Mutation_p.A136V	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCATGGCTGCATATCTGGC	0.473												
ZNF410	57862	broad.mit.edu	37	14	74360573	74360573	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:74360573T>C	uc010arz.2	+	2	557	c.107T>C	c.(106-108)aTt>aCt	p.I36T	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.I36T|ZNF410_uc001xpb.2_Missense_Mutation_p.I36T|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.I36T	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTAAAGATATTACTTGCTTG	0.443												
GPR65	8477	broad.mit.edu	37	14	88478073	88478073	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:88478073C>T	uc021rxh.1	+	0	882	c.882C>T	c.(880-882)acC>acT	p.T294T	GPR65_uc001xvv.3_Silent_p.T294T	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	294					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTTTTGTAACCGAAACAGGAA	0.353												
DICER1	23405	broad.mit.edu	37	14	95557393	95557393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:95557393C>T	uc001ydw.2	-	26	5793	c.5581G>A	c.(5581-5583)Gaa>Aaa	p.E1861K	DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc021sbc.1_Nonsense_Mutation_p.W1806*|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1861	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTCTGGTTCCATTTCAAGC	0.323			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome			
ZSCAN2	54993	broad.mit.edu	37	15	85164337	85164337	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr15:85164337A>G	uc002bkr.3	+	2	1137	c.911A>G	c.(910-912)aAg>aGg	p.K304R	ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.3_Missense_Mutation_p.K154R|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	304					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACGGGGGAAAAGCCCTTCCAG	0.577												
PDZD9	255762	broad.mit.edu	37	16	21995750	21995750	+	Silent	SNP	G	G	A	rs146108684	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:21995750G>A	uc021ter.1	-	2	516	c.453C>T	c.(451-453)gaC>gaT	p.D151D	PDZD9_uc002dka.2_Silent_p.D149D	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.	211								p.D150E(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CTTTCTTGTCGTCTCTGTGAA	0.423												
IL27	246778	broad.mit.edu	37	16	28515112	28515112	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:28515112C>T	uc002dqc.3	-	2	230	c.207G>A	c.(205-207)gcG>gcA	p.A69A	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	69					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTGAGATTCCGCCTGGGGGG	0.632												
HEATR3	55027	broad.mit.edu	37	16	50106625	50106625	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:50106625G>A	uc002efw.3	+	5	784	c.622_splice	c.e5+1	p.A208_splice	HEATR3_uc021thv.1_Splice_Site_p.A122_splice|HEATR3_uc002efx.3_Splice_Site_p.A122_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	208							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TATTTCAGTAGGTAAGTGAAG	0.348												
RABEP1	9135	broad.mit.edu	37	17	5286437	5286437	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:5286437G>A	uc002gbm.4	+	17	2732	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.4_Silent_p.R803R|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	836					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.R836R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCGGATCCGGCAAGCTGACT	0.473												
MYH13	8735	broad.mit.edu	37	17	10215363	10215363	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:10215363C>T	uc002gmk.1	-	31	4486	c.4396G>A	c.(4396-4398)Gaa>Aaa	p.E1466K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1466					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGGCTTTCGTCCAGCTTT	0.517												
ATG4D	84971	broad.mit.edu	37	19	10655709	10655709	+	Silent	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:10655709T>G	uc002mov.3	+	2	516	c.396T>G	c.(394-396)ccT>ccG	p.P132P	ATG4D_uc010xlg.2_Silent_p.P155P|ATG4D_uc010xlh.2_Silent_p.P69P|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	132					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCCTTCCTGGGGGCTGCC	0.632												
ZNF208	7757	broad.mit.edu	37	19	22156647	22156647	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:22156647A>G	uc021urr.1	-	3	1338	c.1189T>C	c.(1189-1191)Tac>Cac	p.Y397H	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACATTTGTAGGGTTTCTCT	0.388												
TRPM4	54795	broad.mit.edu	37	19	49671909	49671910	+	In_Frame_Ins	INS	-	-	GCA			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:49671909_49671910insGCA	uc002pmw.3	+	5	820_821	c.712_713insGCA	c.(712-714)ggc>gGCAgc	p.238_239insS	TRPM4_uc010emu.3_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.3_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	238					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTGGACGACGGCACACACGGC	0.658												
LENG1	79165	broad.mit.edu	37	19	54660572	54660573	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:54660572_54660573delTC	uc002qdm.3	-	2	516_517	c.503_504delGA	c.(502-504)agafs	p.R168fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	168										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCCGTGCTGTCTCTTCTTCCC	0.634												
FAM136A	84908	broad.mit.edu	37	2	70524463	70524463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:70524463C>T	uc002sgq.4	-	2	452	c.375G>A	c.(373-375)atG>atA	p.M125I	FAM136A_uc010fdp.3_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.	125						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCTTCTTGGTCATAGTTGGGA	0.433												
NAT8B	51471	broad.mit.edu	37	2	73928290	73928290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:73928290C>T	uc002sjk.1	-	1	175	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.	48					gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity										AAGGGCCCCCCCAAGTAAGAG	0.612												
CCDC138	165055	broad.mit.edu	37	2	109410997	109410997	+	Silent	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:109410997T>C	uc002ten.1	+	5	455	c.395_splice	c.e5-1	p.V132_splice	CCDC138_uc002teo.1_Splice_Site_p.V132_splice|CCDC138_uc002tep.1_Splice_Site|CCDC138_uc010fjm.1_Splice_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	132										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCTTTGCAGTTGCCTTGCCAA	0.363												
POTEF	728378	broad.mit.edu	37	2	130877735	130877735	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:130877735G>A	uc010fmh.2	-	2	754	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	118						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCCCAAGCGCCCACCTTGC	0.587												
LRP1B	53353	broad.mit.edu	37	2	141986959	141986959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:141986959C>A	uc002tvj.1	-	5	1615	c.643G>T	c.(643-645)Gag>Tag	p.E215*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	215					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)		TAGAAAACCTCAATTGTTTCA	0.284										TSP Lung(27;0.18)		
PLCL1	5334	broad.mit.edu	37	2	198949321	198949321	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:198949321C>T	uc010fsp.3	+	1	1478	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	PLCL1_uc002uuv.4_Silent_p.Y281Y	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	360					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAAGGAGATACGAACTTTCTG	0.388												
NAPB	63908	broad.mit.edu	37	20	23383673	23383673	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:23383673A>T	uc002wtb.3	-	1	252	c.135T>A	c.(133-135)taT>taA	p.Y45*	NAPB_uc002wta.3_Nonsense_Mutation_p.Y45*|NAPB_uc002wtc.3_5'UTR|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45*	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA.	45					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CAGCTCTGGTATACATTTCAC	0.338												
MOCS3	27304	broad.mit.edu	37	20	49576077	49576077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:49576077C>T	uc002xvy.1	+	0	715	c.698C>T	c.(697-699)gCg>gTg	p.A233V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	233					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CCACCCCCAGCGGAGACAGTG	0.622												
PRDM15	63977	broad.mit.edu	37	21	43279747	43279747	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr21:43279747C>T	uc002yzq.1	-	8	1096	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PRDM15_uc002yzo.3_Missense_Mutation_p.G66S|PRDM15_uc002yzp.3_Missense_Mutation_p.G66S|PRDM15_uc002yzr.1_Missense_Mutation_p.G66S	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACCACTGGGCCCAGCTCGGGA	0.597												
SEC14L3	266629	broad.mit.edu	37	22	30857619	30857619	+	Silent	SNP	G	G	A	rs139964800	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr22:30857619G>A	uc003ahy.3	-	9	923	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SEC14L3_uc003ahz.3_Silent_p.Y201Y|SEC14L3_uc003aia.3_Silent_p.Y219Y|SEC14L3_uc003aib.3_Silent_p.Y219Y	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	278	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCGAGTGCTCGTACTGAGTCT	0.572												
SCN5A	6331	broad.mit.edu	37	3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:38622444G>A	uc021wvo.1	-	15	3258	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_uc021wvk.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvl.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvm.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvn.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvp.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvq.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvr.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvs.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvt.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvu.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvv.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvj.1_Missense_Mutation_p.T935M|SCN5A_uc021wvi.1_Missense_Mutation_p.T935M|SCN5A_uc021wvw.1_Missense_Mutation_p.T680M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1069					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(2)|p.T1069T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCTCCGTGCCCAGGCT	0.627												
ABI3BP	25890	broad.mit.edu	37	3	100645260	100645260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:100645260G>A	uc003dun.3	-	1	251	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	ABI3BP_uc003duo.2_Missense_Mutation_p.R49C|ABI3BP_uc003dup.4_Missense_Mutation_p.R49C	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	56						extracellular space		p.R56H(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGACTTGGACGCAAGAACTTC	0.448												
ZPLD1	131368	broad.mit.edu	37	3	102157373	102157373	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:102157373G>A	uc003dvt.1	+	1	190	c.90G>A	c.(88-90)gtG>gtA	p.V30V	ZPLD1_uc003dvs.1_Silent_p.V14V|ZPLD1_uc011bhg.1_Silent_p.V14V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	14						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAATTAGAGTGCTTCCGGGGT	0.433												
CCDC37	348807	broad.mit.edu	37	3	126153142	126153142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:126153142G>A	uc010hsg.1	+	13	1608	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	CCDC37_uc003eiu.1_Missense_Mutation_p.E516K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	516										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCAGCTGGATGAGCTGCTAGA	0.622												
B3GALNT1	8706	broad.mit.edu	37	3	160804500	160804500	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:160804500G>C	uc003fdv.3	-	4	462	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	B3GALNT1_uc003fdw.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fea.3_Missense_Mutation_p.L15V|B3GALNT1_uc011bpa.2_Missense_Mutation_p.L15V|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L15V	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	15					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGGGATCTCAGTGACATCCTA	0.527												
ZNF391	346157	broad.mit.edu	37	6	27368167	27368167	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:27368167G>A	uc003njf.1	+	2	536	c.18G>A	c.(16-18)ggG>ggA	p.G6G	ZNF391_uc021ypw.1_Silent_p.G6G	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCTCAGAGGGAATACTGCTC	0.423												
CCHCR1	54535	broad.mit.edu	37	6	31124628	31124628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:31124628A>G	uc003nsp.4	-	2	566	c.377T>C	c.(376-378)cTg>cCg	p.L126P	CCHCR1_uc011dne.2_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Missense_Mutation_p.L37P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	37					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGGTTGGACCAGGGGAATGTC	0.577												
TREML2	79865	broad.mit.edu	37	6	41166083	41166083	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:41166083T>C	uc010jxm.1	-	1	319	c.140A>G	c.(139-141)aAa>aGa	p.K47R		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	47	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.W47L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACGCGGTTTTTGTAGCCCTT	0.537												
PTCHD4	442213	broad.mit.edu	37	6	47846894	47846894	+	Silent	SNP	G	G	A	rs147985171	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:47846894G>A	uc011dwm.2	-	2	1720	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	PTCHD4_uc011dwn.2_Silent_p.N309N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	562						integral to membrane	hedgehog receptor activity										TGGCACTGACGTTGCTGACTT	0.443												
SGK1	6446	broad.mit.edu	37	6	134493394	134493394	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:134493394G>A	uc003qen.4	-	7	812	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SGK1_uc003qeo.4_Silent_p.F336F|SGK1_uc011ect.2_Silent_p.F231F|SGK1_uc011ecu.2_Silent_p.F197F|SGK1_uc011ecv.2_Silent_p.F255F|SGK1_uc011ecw.2_Silent_p.F269F	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	241	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCAGAGTCCGAAGTCAGTAA	0.448												
KBTBD2	25948	broad.mit.edu	37	7	32909459	32909459	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:32909459G>T	uc003tdb.2	-	3	2029	c.1370C>A	c.(1369-1371)aCt>aAt	p.T457N	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	457										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGACCTACTAGTCTGTCTCAT	0.438												
IKZF1	10320	broad.mit.edu	37	7	50467932	50467932	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:50467932C>T	uc003tow.4	+	7	1322	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	IKZF1_uc022acq.1_Silent_p.S246S|IKZF1_uc003tpa.4_Silent_p.S154S|IKZF1_uc022acr.1_Silent_p.S164S|IKZF1_uc022acs.1_Silent_p.S119S|IKZF1_uc022act.1_Silent_p.S292S|IKZF1_uc022acu.1_Silent_p.S302S|IKZF1_uc003tox.4_Silent_p.S347S|IKZF1_uc022acv.1_Silent_p.S250S|IKZF1_uc022acw.1_Silent_p.S260S|IKZF1_uc022acx.1_Silent_p.S302S|IKZF1_uc022acy.1_Silent_p.S196S|IKZF1_uc022acz.1_Silent_p.S206S|IKZF1_uc011kck.2_Silent_p.S302S|IKZF1_uc003toy.4_Silent_p.S347S|IKZF1_uc003toz.4_Silent_p.S359S|IKZF1_uc010kyx.3_Silent_p.S129S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	389					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCGAGGCGTCCCCGAGCAACA	0.672			"""D,T"""	BCL6	"""ALL, DLBCL"""							
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
SEMA3C	10512	broad.mit.edu	37	7	80387708	80387708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:80387708G>A	uc011kgw.2	-	14	1715	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SEMA3C_uc003uhj.3_Missense_Mutation_p.R528W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	528					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAGGGTCCCGCGCCAGGCAG	0.527												
NPTX2	4885	broad.mit.edu	37	7	98257875	98257875	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:98257875C>T	uc003upl.2	+	4	1407	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	410	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.V410V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582												
NYAP1	222950	broad.mit.edu	37	7	100085924	100085924	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100085924C>A	uc003uvd.1	+	3	739	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	NYAP1_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	194																	CCTGCCTCTTCAGCGCCTCAC	0.637												
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100678887C>T	uc003uxp.1	+	2	4243	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1397	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507												
FIS1	51024	broad.mit.edu	37	7	100887381	100887381	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100887381A>T	uc003uyj.4	-	1	171	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Intron	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	29					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGACACCGAGCCTGCTGCC	0.512											OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DUS4L	11062	broad.mit.edu	37	7	107214222	107214222	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:107214222T>G	uc003veh.3	+	4	645	c.312T>G	c.(310-312)tgT>tgG	p.C104W	DUS4L_uc011klw.2_Intron|DUS4L_uc011klx.2_5'UTR|DUS4L_uc022ajw.1_Intron|DUS4L_uc010ljl.3_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	104					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						GTATAGTCTGTCCTTATGCGA	0.383												
LOC407835	407835	broad.mit.edu	37	7	128766784	128766784	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:128766784C>T	uc003voo.3	+	0	460	c.213C>T	c.(211-213)ttC>ttT	p.F71F						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		ACGATGACTTCGAAAGGACCT	0.587												
RHOBTB2	23221	broad.mit.edu	37	8	22864290	22864290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:22864290G>A	uc003xcp.2	+	6	881	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|RHOBTB2_uc003xcq.2_Missense_Mutation_p.A178T|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	178	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGGGAGGTGGCCAAGGAGCT	0.577												
TEX15	56154	broad.mit.edu	37	8	30699744	30699744	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:30699744T>C	uc003xil.3	-	0	6790	c.6790A>G	c.(6790-6792)Aag>Gag	p.K2264E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2264										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTAAAATCTTCCTTCTGTTA	0.313												
TMEM67	91147	broad.mit.edu	37	8	94767177	94767178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:94767177_94767178insG	uc011lgk.2	+	0	106_107	c.35_36insG	c.(34-36)gcgfs	p.A12fs	TMEM67_uc010mau.3_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mav.3_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc003yga.4_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	12					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.V12V(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTGGCAATGGCGGTTTGGTCCC	0.653												
PLEC	5339	broad.mit.edu	37	8	144993481	144993481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:144993481G>A	uc003zaf.1	-	31	11089	c.10919C>T	c.(10918-10920)gCg>gTg	p.A3640V	PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3640	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGGGGTCCGCCAGGACGCG	0.662												
CDKN2A	1029	broad.mit.edu	37	9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr9:21971124_21971125delGA	uc003zpk.3	-	1	539_540	c.233_234delTC	c.(232-234)ctcfs	p.L78fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.L78fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.S92fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	78					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(29)|p.L78fs*67(2)|p.E61_L94del(2)|p.T77fs*43(2)|p.L78H(2)|p.L65fs*38(1)|p.0(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.T77S(1)|p.T77fs*69(1)|p.H134fs*41(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
MAGEB6	158809	broad.mit.edu	37	X	26212711	26212711	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chrX:26212711G>A	uc022buc.1	+	0	748	c.748G>A	c.(748-750)Gtt>Att	p.V250I	MAGEB6_uc004dbr.3_Missense_Mutation_p.V250I	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	250	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCCTTTGGCGTTGAATTGAA	0.517												
