Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SEPT6	23157	broad.mit.edu	37	X	118783981	118783981	+	Silent	SNP	G	G	A	rs143380835		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:118783981G>A	ENST00000394610.1	-	5	873	c.609C>T	c.(607-609)agC>agT	p.S203S	SEPT6_ENST00000394616.4_Silent_p.S145S|SEPT6_ENST00000360156.7_Silent_p.S203S|SEPT6_ENST00000354416.3_Silent_p.S203S|SEPT6_ENST00000343984.5_Silent_p.S203S|SEPT6_ENST00000354228.4_Silent_p.S203S|SEPT6_ENST00000489216.1_Silent_p.S203S|SEPT6_ENST00000394617.2_Silent_p.S233S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	203					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGACAAGCTCGCTGGTGATTT	0.473000			T	MLL	AML								11	71					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2506639	2506639	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:2506639C>T	ENST00000397066.4	+	17	2067	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	660	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAGGCTTGTCCAGAGGACAAG	0.632000													5	38					0	0	1	0	0
KCNRG	0	broad.mit.edu	37	13	50594457	50594457	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:50594457G>T	ENST00000312942.1	+	2	926	c.686G>T	c.(685-687)aGa>aTa	p.R229I	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	229						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GTCAGCACTAGAACAGTATCT	0.388000													11	23					5.01169e-05	5.21765e-05	1	1	0
C16orf70	80262	broad.mit.edu	37	16	67159901	67159901	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159901G>T	ENST00000219139.3	+	3	375	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CCTGACTCAGGACGGGATCAA	0.378000													32	81					1.96642e-18	2.13497e-18	1	1	0
SNAI3	333929	broad.mit.edu	37	16	88747582	88747582	+	Missense_Mutation	SNP	G	G	A	rs139790709		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:88747582G>A	ENST00000332281.5	-	2	703	c.617C>T	c.(616-618)aCg>aTg	p.T206M	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	206					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGGGCAGCGTGTGAGTGCG	0.612000													16	168					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67159903	67159903	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159903C>T	ENST00000219139.3	+	3	377	c.189C>T	c.(187-189)gaC>gaT	p.D63D	C16orf70_ENST00000569600.1_Silent_p.D63D|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGACTCAGGACGGGATCAAAC	0.378000													32	80					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33177793	33177793	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:33177793G>A	ENST00000374656.4	+	4	549	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	114	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TATCCTAGCCGGGAGGAATAC	0.567000													4	50					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077806	19077806	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:19077806G>A	ENST00000329773.2	-	2	231	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	48					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCACAAACCCGTTTCCTACCA	0.582000													37	71					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411267	43411267	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:43411267G>A	ENST00000187910.2	-	5	1112	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG6_ENST00000292125.2_Silent_p.L349L|PSG6_ENST00000402603.4_Silent_p.L256L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGGACAAGTCGAGGTTTTCTC	0.463000													32	175					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206562279	206562279	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:206562279G>A	ENST00000360409.3	+	2	876	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R|NRP2_ENST00000540178.1_Missense_Mutation_p.G29R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	29	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G29*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCACCGTGCGGAGGTCGTTT	0.512000													143	316					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084240	66084240	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:66084240G>T	ENST00000311330.3	-	1	275	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	87	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L87M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCCGCTGCAGCCCGATCCAC	0.731000													7	21					0.00198382	0.00203743	1	1	0
FAM72B	653820	broad.mit.edu	37	1	120846050	120846050	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:120846050T>A	ENST00000369390.3	+	3	1115	c.286T>A	c.(286-288)Tgc>Agc	p.C96S	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.C56S	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	96										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTTCCTTCCTGCAACAACGG	0.388000													4	328					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3649106	3649106	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:3649106G>A	ENST00000263087.4	-	18	2369	c.2271C>T	c.(2269-2271)agC>agT	p.S757S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	757					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCTGGGATCCGCTGCTCCACT	0.557000													38	51					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			5	195					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37369333	37369333	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:37369333A>T	ENST00000333461.5	-	10	1415	c.1046T>A	c.(1045-1047)gTg>gAg	p.V349E		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	349	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCCTGGCCTCACCCGTTGCAC	0.602000													4	85					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50512646	50512646	+	Splice_Site	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr22:50512646G>A	ENST00000311597.5	-	8	1319	c.714_splice	c.e8+1	p.A238_splice	MLC1_ENST00000431262.2_Splice_Site_p.A208_splice|MLC1_ENST00000538737.1_Splice_Site_p.A204_splice|MLC1_ENST00000395876.2_Splice_Site_p.A238_splice|MLC1_ENST00000450140.2_Splice_Site_p.A186_splice|MLC1_ENST00000535444.1_Splice_Site_p.A159_splice	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	238						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTACTCACGGCCACTAGGAT	0.622000													12	16					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37592096	37592096	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:37592096G>T	ENST00000284437.6	+	3	597	c.419G>T	c.(418-420)gGg>gTg	p.G140V	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	140										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTGGAAGGAGGGGGCACCAGG	0.577000													3	88					0.014758	0.014758	1	1	0
EPX	8288	broad.mit.edu	37	17	56274484	56274484	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:56274484C>T	ENST00000225371.5	+	7	1096	c.986C>T	c.(985-987)aCc>aTc	p.T329I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	329					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CGCAACCGGACCAACTACCTG	0.622000													51	87					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626294	49626294	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:49626294G>A	ENST00000371571.4	-	2	867	c.582C>T	c.(580-582)cgC>cgT	p.R194R	KCNG1_ENST00000396017.3_Silent_p.R194R|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	194						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTCGCTGTCGCGGCCCTCGC	0.716000													3	34					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872628	54872628	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:54872628G>A	ENST00000391743.3	-	2	485	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LAIR1_ENST00000434277.2_Missense_Mutation_p.R86C|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Missense_Mutation_p.R87C|LAIR1_ENST00000313038.6_Missense_Mutation_p.R80C|LAIR1_ENST00000391742.2_Missense_Mutation_p.R87C|LAIR1_ENST00000474878.1_Missense_Mutation_p.R86C			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	87	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GAGTCAATGCGGAATCTGGCC	0.493000													77	154					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	RNA	SNP	A	A	G	rs147132093		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:53958879A>G	ENST00000454407.1	+	0	1571							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428000													5	215					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89671667	89671667	+	Silent	SNP	G	G	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:89671667G>C	ENST00000264344.5	-	15	2055	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000395002.2_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000503556.1_Silent_p.L276L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	616					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACCGAGGAGAGAGCATGGGGT	0.577000													31	51					0	0	1	0	0
DUS2L	0	broad.mit.edu	37	16	68104843	68104843	+	Splice_Site	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:68104843C>T	ENST00000565263.1	+	12	1136	c.641_splice	c.e12-1	p.N214_splice	DUS2L_ENST00000432752.1_Splice_Site_p.N179_splice|DUS2L_ENST00000358896.6_Splice_Site_p.N214_splice	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		214					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TGCTTTTTAGCGGAGGATCTC	0.507000													17	41					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228452055	228452055	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:228452055C>T	ENST00000570156.2	+	18	5450	c.5376C>T	c.(5374-5376)gcC>gcT	p.A1792A	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A264A|OBSCN_ENST00000284548.11_Silent_p.A1608A|OBSCN_ENST00000422127.1_Silent_p.A1608A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	780	Fibronectin type-III 2.		R -> H (in a colorectal cancer sample; somatic mutation).		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAAGGCCGGGGATCAGC	0.657000													4	50					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106090832	106090832	+	RNA	SNP	G	G	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:106090832G>C	ENST00000390543.2	-	0	964																											CAGAGACAGGGAGAGGCTCTT	0.612000													29	59					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198719701	198719701	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:198719701C>T	ENST00000367376.2	+	29	3318	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	PTPRC_ENST00000594404.1_Silent_p.F888F|PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000442510.2_Silent_p.F1051F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1049	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGATGATCTTCCAAAGAAAAG	0.393000													13	83					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982304	9982304	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:9982304C>T	ENST00000506583.1	-	7	723	c.506G>A	c.(505-507)cGt>cAt	p.R169H	SLC2A9_ENST00000264784.3_Missense_Mutation_p.R198H|SLC2A9_ENST00000309065.3_Missense_Mutation_p.R169H			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	198					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGAGAGCCACGGATCTCCTT	0.572000													4	44					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606147	21606147	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:21606147G>T	ENST00000281523.2	-	3	713	c.195C>A	c.(193-195)aaC>aaA	p.N65K	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	65						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGAATGTATGGTTTATTACAG	0.348000													26	65					3.03874e-20	3.34702e-20	1	1	0
SNRPN	6638	broad.mit.edu	37	15	25221557	25221557	+	Silent	SNP	C	C	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr15:25221557C>A	ENST00000444203.2	+	4	1312	c.273C>A	c.(271-273)ccC>ccA	p.P91P	SNRPN_ENST00000554227.2_Silent_p.P91P|SNRPN_ENST00000577565.1_Silent_p.P87P|SNRPN_ENST00000400097.1_Silent_p.P87P|SNRPN_ENST00000390687.4_Silent_p.P87P|SNRPN_ENST00000346403.6_Silent_p.P87P|SNRPN_ENST00000400098.1_Silent_p.P87P|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Silent_p.P87P			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGCCACCCCCCAAAGATGTAA	0.488000									Prader-Willi syndrome				23	27					1.10923e-09	1.18735e-09	1	1	0
AKAP8	10270	broad.mit.edu	37	19	15471682	15471682	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:15471682C>T	ENST00000269701.2	-	12	1564	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	502					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGTGGTCCACGGAGTGCAGG	0.607000													9	22					0	0	1	0	0
ZNF219	0	broad.mit.edu	37	14	21559179	21559179	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:21559179G>A	ENST00000360947.3	-	5	2096	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.P562L|ZNF219_ENST00000451119.2_Missense_Mutation_p.P562L	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	562					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGGTGGCTCCGGGGGTGGCCC	0.736000													7	6					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902612	40902612	+	Silent	SNP	C	C	G			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577000													3	186					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114468873	114468873	+	Silent	SNP	C	C	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:114468873C>A	ENST00000394779.3	-	16	2647	c.2403G>T	c.(2401-2403)gtG>gtT	p.V801V	C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394777.4_Silent_p.V766V|C9orf84_ENST00000318737.4_Silent_p.V840V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	840										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGAAGAATCACTTTAAAGG	0.299000													39	71					6.68952e-21	7.47652e-21	1	1	0
VWA8	23078	broad.mit.edu	37	13	42259307	42259307	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:42259307G>A	ENST00000379310.3	-	35	4271	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TTCCTCTATAGAATGATGTAT	0.393000													7	28					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231395	100231395	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:100231395C>G	ENST00000231461.5	-	2	518	c.208G>C	c.(208-210)Ggt>Cgt	p.G70R	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	70					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTTTCCAACCTTCTACATTG	0.388000													17	42					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82849251	82849251	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:82849251C>T	ENST00000265077.3	+	11	10127	c.9562C>T	c.(9562-9564)Cgc>Tgc	p.R3188C	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN_ENST00000502527.2_Missense_Mutation_p.R447C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3188	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCCCATCGACGCACATGGGA	0.483000													31	174					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94927205	94927205	+	Silent	SNP	T	T	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:94927205T>C	ENST00000380009.4	+	6	1177	c.972T>C	c.(970-972)ttT>ttC	p.F324F		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	324						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		ATCGACAGTTTTATAAAATGA	0.413000													3	191					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	40999970	40999970	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:40999970A>G	ENST00000324545.7	+	7	1349	c.716A>G	c.(715-717)gAt>gGt	p.D239G	USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	239					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTTGCATGATCGTTTTATT	0.328000													5	31					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349783	26349783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:26349783C>T	ENST00000374280.3	+	1	1513	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	216					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAGCTGCGGCAACACAG	0.697000													4	20					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028525	79028525	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:79028525C>T	ENST00000446378.2	+	2	3968	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1313						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAACTACACCTATAGTGCT	0.378000													4	11					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111562876	111562876	+	Silent	SNP	G	G	A	rs139248421	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:111562876G>A	ENST00000389811.4	+	9	881	c.657G>A	c.(655-657)tcG>tcA	p.S219S	ACOXL_ENST00000340561.4_Silent_p.S219S|ACOXL_ENST00000439055.1_Silent_p.S219S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	219				S -> L (in Ref. 3; AAH22268).	fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.S219S(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTACCATTCGCCTATTAGGA	0.493000													3	88					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592175	6592175	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:6592175G>A	ENST00000254579.6	+	42	13997	c.13433G>A	c.(13432-13434)cGg>cAg	p.R4478Q	DNHD1_ENST00000527990.2_Missense_Mutation_p.R4478Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4478					microtubule-based movement	dynein complex	microtubule motor activity	p.R4478Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAAATGCACGGCGGCCTCTG	0.612000													17	41					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72420926	72420926	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:72420926G>A	ENST00000359373.5	-	11	2363	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y|ARAP1_ENST00000393609.3_Silent_p.Y504Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	504	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAAGATGCGGTAGGGCGTGG	0.577000													4	174					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514376	79514376	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:79514376G>A	ENST00000537152.1	-	5	1804	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	C17orf70_ENST00000327787.8_Missense_Mutation_p.R578W|C17orf70_ENST00000425898.2_Missense_Mutation_p.R227W	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	578					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCACCTCCCGCCGAGCACCG	0.682000													3	76					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16409611	16409611	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:16409611C>T	ENST00000354981.2	-	14	1618	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	KIF16B_ENST00000408042.1_Silent_p.T487T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T487T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	487	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TATCTTGCTCCGTGGAAGCAT	0.378000													6	91					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158988436	158988436	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:158988436C>T	ENST00000295809.7	+	5	1222	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	323	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATTTATGCTACATAAGGTAAG	0.338000													16	15					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16328224	16328224	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:16328224G>A	ENST00000244769.4	-	8	1254	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ATXN1_ENST00000436367.1_Silent_p.Y106Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	106					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCGGGGTGGCGTACGCGGCAG	0.637000													4	82					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51992215	51992215	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:51992215G>A	ENST00000461554.1	-	14	1405	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PCBP4_ENST00000484633.1_Silent_p.I315I|PCBP4_ENST00000428823.2_Silent_p.I315I|PCBP4_ENST00000395013.3_Silent_p.I198I|PCBP4_ENST00000355852.2_Silent_p.I358I|PCBP4_ENST00000322099.7_Silent_p.I358I|PCBP4_ENST00000395014.2_Silent_p.I379I|PCBP4_ENST00000471622.1_Intron	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	358						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTTGAGGCCGATGAAGTTGG	0.662000													3	137					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134026000	134026000	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:134026000C>T	ENST00000220616.4	+	37	6593	c.6553C>T	c.(6553-6555)Cgg>Tgg	p.R2185W	TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W|TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000377869.1_Missense_Mutation_p.R2128W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2185					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCACATCTACCGGAAGCCAGG	0.517000													6	22					0	0	1	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371603	107371603	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr12:107371603G>A	ENST00000552029.1	-	2	2958	c.890C>T	c.(889-891)cCa>cTa	p.P297L	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTCTAAAACTGGAACAGAATA	0.348000													23	49					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56651182	56651182	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:56651182G>A	ENST00000394672.3	+	14	1956	c.1886G>A	c.(1885-1887)tGt>tAt	p.C629Y	CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y|CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	629										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATCACATTGTGGATCATTA	0.299000													9	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:179516426C>T	ENST00000589042.1	-	206	39654	c.39430G>A	c.(39430-39432)Gtt>Att	p.V13144I	TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11497	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGCAACGACAGCAGGT	0.398000													9	12					0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47650744	47650744	+	Missense_Mutation	SNP	C	C	T	rs35912227	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:47650744C>T	ENST00000294338.2	-	3	324	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.V68I	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	68						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						TTGTTTCCGACGGTCAGGATC	0.617000													3	89					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121519023	121519023	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:121519023A>T	ENST00000305949.1	+	16	1850	c.1805A>T	c.(1804-1806)gAt>gTt	p.D602V		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	602	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATTGTTGGATGCTAAAGAA	0.398000													18	56					0	0	1	0	0
TMEM102	284114	broad.mit.edu	37	17	7340329	7340329	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:7340329C>T	ENST00000323206.1	+	3	1304	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	344					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GCCTCTGAGTCGGCTTCCTTC	0.726000													6	6					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17608511	17608511	+	Nonsense_Mutation	SNP	C	C	T	rs117928010	by1000genomes	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:17608511C>T	ENST00000259963.3	+	5	1238	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	395	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCAGCATAATCGAACAGCTTA	0.383000													5	76					0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108397472	108397472	+	Missense_Mutation	SNP	G	G	A	rs139291792		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:108397472G>A	ENST00000223528.2	+	10	1437	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	FKTN_ENST00000448551.2_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.R438H|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000540160.1_3'UTR	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	438					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GACTGGAAGCGCTCTCCTCCC	0.453000													31	53					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73553231	73553231	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:73553231C>T	ENST00000224721.6	+	47	6566	c.6561C>T	c.(6559-6561)agC>agT	p.S2187S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2182	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGACAGTGAGCGTGCTGGAGT	0.567000													9	124					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49207086	49207086	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49207086C>T	ENST00000425340.2	+	2	990	c.873C>T	c.(871-873)ttC>ttT	p.F291F	FUT2_ENST00000391876.4_Silent_p.F291F	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	291					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TTGGGACGTTCGGGATCTGGG	0.542000													25	184					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33567955	33567955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:33567955G>A	ENST00000404816.2	+	25	4134	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N	LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1261	EGF-like 13; calcium-binding (Potential).				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			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)				CGGGTTTTGTGACAATACAGC	0.448000													5	75					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489328	133489328	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:133489328G>A	ENST00000409261.1	-	17	5798	c.5425C>T	c.(5425-5427)Ccc>Tcc	p.P1809S	NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1809							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGTTTGGGGAGGCGGCTC	0.512000													3	32					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:24795366C>T	ENST00000310677.4	-	13	1687	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCGGGGGGTACGGCTCCTGCA	0.592000													3	47					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616338	248616338	+	Silent	SNP	C	C	T	rs145622684		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:248616338C>T	ENST00000342927.3	+	1	262	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTCCCCAAGATGCTCC	0.522000													6	174					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99344570	99344570	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:99344570G>C	ENST00000370646.4	+	1	471	c.110G>C	c.(109-111)gGt>gCt	p.G37A	PI4K2A_ENST00000370649.3_Missense_Mutation_p.G37A|PI4K2A_ENST00000555577.1_Missense_Mutation_p.G37A|HOGA1_ENST00000370647.4_Missense_Mutation_p.G37A	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1									p.G37V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GACATTGCGGGTATCTACCCC	0.597000													11	123					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914695	39914695	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:39914695G>A	ENST00000393931.3	-	10	1847	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	JUP_ENST00000310706.5_Missense_Mutation_p.R577C|JUP_ENST00000393930.1_Missense_Mutation_p.R577C|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATCTCCATGCGGTTCATGGGG	0.617000													4	116					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249118997	249118997	+	Silent	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:249118997G>T	ENST00000366472.5	-	2	1367	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	46										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGACAATTTGGCCTCACTGC	0.577000													64	131					8.70598e-44	9.87545e-44	1	1	0
GNL1	2794	broad.mit.edu	37	6	30520936	30520936	+	Silent	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:30520936G>T	ENST00000376621.3	-	7	1799	c.829C>A	c.(829-831)Cgg>Agg	p.R277R		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	277					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCTCCCCCGCCTCCGACTC	0.602000													7	150					0.00307968	0.00312074	1	1	0
ATG13	9776	broad.mit.edu	37	11	46690391	46690391	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:46690391C>T	ENST00000434074.1	+	15	1967	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	ATG13_ENST00000528494.1_Silent_p.S459S|ATG13_ENST00000312040.4_Silent_p.S426S|ATG13_ENST00000359513.4_Silent_p.S426S|ATG13_ENST00000526508.1_Silent_p.S426S|ATG13_ENST00000530500.1_Silent_p.S310S|ATG13_ENST00000529655.1_Silent_p.S389S|ATG13_ENST00000524625.1_Silent_p.S389S|ATG13_ENST00000451945.1_Silent_p.S389S	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	426					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCCAGGGCAGCCTGCACTCAG	0.517000													3	38					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089672	86089672	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:86089672C>A	ENST00000330753.4	+	2	2581	c.1814C>A	c.(1813-1815)aCc>aAc	p.T605N	FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	605					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATGACAGAAACCAGTTTTCAG	0.473000													4	160					1.23904e-05	1.30788e-05	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100609803	100609803	+	Splice_Site	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr7:100609803A>T	ENST00000319509.7	+	9	2444		c.e9-1		RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGCCCCACCTAGGTCCTGGGA	0.692000													7	91					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26506583	26506583	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:26506583G>A	ENST00000376261.3	+	2	624	c.121G>A	c.(121-123)Gga>Aga	p.G41R	GAD2_ENST00000259271.3_Missense_Mutation_p.G41R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	41					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GGGCGGCATCGGAAACAAACT	0.632000													3	27					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844771	18844771	+	RNA	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr22:18844771G>A	ENST00000412938.1	+	0	3021																											TCTGAGGGCAGCAGTGCACGT	0.567000													3	8					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343683	72343683	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr18:72343683A>T	ENST00000299687.5	+	1	708	c.708A>T	c.(706-708)caA>caT	p.Q236H	ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATATCAAACAAGCACATGGGC	0.443000													31	76					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542011	154542011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:154542011delC	ENST00000368476.3	+	2	402	c.138delC	c.(136-138)atfs	p.I46fs		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	46					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACAAGCTTATCCGCCCAGCCA	0.597													17	34	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													3	4	---	---	---	---					
HLA-F-AS1	0	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:29709414delA	ENST00000458236.1	-	0	349																											tagtttccccatttcatagat	0.458													4	2	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cca>cc	p.PP916del		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	916	Pro-rich.							p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458													2	4	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	5	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7788212	7788214	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:7788212_7788214delGAG	ENST00000380358.4	+	1	89_91	c.88_90delGAG	c.(88-90)del	p.E35del	LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	450					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agagggcgacgaggaggaggagg	0.685													3	5	---	---	---	---					
TRPM4	54795	broad.mit.edu	37	19	49713988	49713988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49713988delC	ENST00000252826.5	+	22	3476	c.3350delC	c.(3349-3351)gcfs	p.A1117fs	TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1117	Calmodulin-binding.				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)		TCTAAGGAAGCCGAGCGGAAG	0.622													23	41	---	---	---	---					
RNA5-8SP6	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													8	55	---	---	---	---					
