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	uc004erv.3	-	4	874	c.609C>T	c.(607-609)agC>agT	p.S203S	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.S203S|SEPT6_uc004ert.3_Silent_p.S203S|SEPT6_uc004eru.3_Silent_p.S203S|SEPT6_uc004erw.3_Silent_p.S145S|SEPT6_uc011mtv.1_Silent_p.S145S|SEPT6_uc011mtw.1_Silent_p.S233S	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	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	uc002cqd.1	+	16	2067	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	CCNF_uc002cqe.1_Missense_Mutation_p.P352L	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	660	PEST.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	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	283518	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	uc001vdu.3	+	1	926	c.686G>T	c.(685-687)aGa>aTa	p.R229I	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	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					0	0	1	0	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	uc002erd.3	+	2	351	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C16orf70_uc002erc.3_Missense_Mutation_p.D63Y|C16orf70_uc002ere.1_Missense_Mutation_p.D41Y	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	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					0	0	1	0	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	uc002flj.3	-	1	685	c.617C>T	c.(616-618)aCg>aTg	p.T206M	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	206					oxidation-reduction process		DNA binding|copper ion 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	uc002erd.3	+	2	353	c.189C>T	c.(187-189)gaC>gaT	p.D63D	C16orf70_uc002erc.3_Silent_p.D63D|C16orf70_uc002ere.1_Silent_p.D41D	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	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
KRT81	3887	broad.mit.edu	37	12	52681054	52681054	+	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.chr12:52681054G>T	uc001sab.3	-	6	1129	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_5'UTR	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	360	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.617000													7	76					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	uc003odk.3	+	3	535	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	RING1_uc011dqx.1_Missense_Mutation_p.R114Q|RING1_uc003odl.3_Missense_Mutation_p.R85Q	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	114	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	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	uc001mph.3	-	1	232	c.144C>T	c.(142-144)aaC>aaT	p.N48N	MRGPRX2_uc021qer.1_Silent_p.N48N	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	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
AL117485	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	uc002zoe.3	+	3		c.2025G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCTGAGGGCAGCAGTGCACGT	0.567000													3	8					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	uc002vaw.3	+	1	876	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_uc002vat.3_Missense_Mutation_p.G29R|NRP2_uc002vau.3_Missense_Mutation_p.G29R|NRP2_uc002vav.3_Missense_Mutation_p.G29R|NRP2_uc002vax.3_Missense_Mutation_p.G29R|NRP2_uc002vay.3_Missense_Mutation_p.G29R|NRP2_uc010fud.3_Missense_Mutation_p.G29R	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	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*(6)		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	uc001ohm.1	-	0	276	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	87	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L87M(2)		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	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	uc002fwo.4	-	17	2370	c.2271C>T	c.(2269-2271)agC>agT	p.S757S		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	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	uc003jgo.3	+	10	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	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(2)		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	uc002hrs.3	-	9	1331	c.1046T>A	c.(1045-1047)gTg>gAg	p.V349E	STAC2_uc010cvt.3_Missense_Mutation_p.V207E	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	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	uc003bjg.1	-	8	987	c.714_splice	c.e8+1	p.A238_splice	MLC1_uc011arl.1_Splice_Site_p.A186_splice|MLC1_uc003bjh.1_Splice_Site_p.A238_splice|MLC1_uc011arm.1_Splice_Site_p.A208_splice|MLC1_uc011arn.1_Splice_Site_p.A159_splice|MLC1_uc011aro.1_Splice_Site_p.A204_splice	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	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
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	uc002ivq.3	+	6	1105	c.986C>T	c.(985-987)aCc>aTc	p.T329I		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	329					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R328R(1)		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	uc002xwa.4	-	1	877	c.582C>T	c.(580-582)cgC>cgT	p.R194R	KCNG1_uc002xwb.3_Silent_p.R194R	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	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	uc002qfk.1	-	2	569	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	LAIR1_uc002qfl.1_Missense_Mutation_p.R87C|LAIR1_uc002qfm.1_Missense_Mutation_p.R86C|LAIR1_uc002qfn.1_Missense_Mutation_p.R86C|LAIR1_uc010yex.2_Missense_Mutation_p.R80C|LAIR1_uc002qfo.3_Missense_Mutation_p.R69C	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	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	+	Missense_Mutation	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	uc010eqp.3	+	6	1576	c.1118A>G	c.(1117-1119)cAt>cGt	p.H373R	ZNF761_uc010ydy.2_Missense_Mutation_p.H319R|ZNF761_uc002qbt.2_Missense_Mutation_p.H319R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	373					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	uc003hse.1	-	14	2056	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	FAM13A_uc003hsa.1_Silent_p.L87L|FAM13A_uc003hsb.1_Silent_p.L290L|FAM13A_uc003hsd.1_Silent_p.L290L|FAM13A_uc003hsc.1_Silent_p.L276L|FAM13A_uc011cdq.1_Silent_p.L262L|FAM13A_uc003hsf.1_Silent_p.L202L|FAM13A_uc003hsg.1_Silent_p.L87L|FAM13A_uc010ikr.1_Silent_p.L112L	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	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
PSG4	5672	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	uc002ovj.1	-	4	1146	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.L189L|PSG4_uc002ovg.1_Silent_p.L349L	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	350	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.463000													32	175					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	uc001iek.1	+	0	240	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	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
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	uc001gur.1	+	28	3327	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	PTPRC_uc001gut.1_Silent_p.F888F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1049	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	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	uc003gmc.3	-	4	654	c.593G>A	c.(592-594)cGt>cAt	p.R198H	SLC2A9_uc003gmd.3_Missense_Mutation_p.R169H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	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
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	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.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													4	68					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	uc003cce.3	-	2	603	c.195C>A	c.(193-195)aaC>aaA	p.N65K	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	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					0	0	1	0	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	uc021sgb.1	+	3	1312	c.270C>A	c.(268-270)ccC>ccA	p.P90P	SNRPN_uc001ywp.1_Silent_p.P87P|SNRPN_uc001ywq.1_Silent_p.P87P|SNRPN_uc001ywr.1_Silent_p.P87P|SNRPN_uc001yws.1_Silent_p.P87P|SNRPN_uc001ywt.1_Silent_p.P87P|SNRPN_uc001ywy.1_Silent_p.P87P|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Silent_p.P87P	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	87					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.D89Y(1)		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					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	uc003ytw.3	+	36	6594	c.6553C>T	c.(6553-6555)Cgg>Tgg	p.R2185W	TG_uc010mdw.3_Missense_Mutation_p.R944W|TG_uc011ljb.2_Missense_Mutation_p.R554W|TG_uc011ljc.2_Missense_Mutation_p.R318W	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	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
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	uc002nav.3	-	11	1574	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	AKAP8_uc010dzy.3_Missense_Mutation_p.V51M|AKAP8_uc010dzz.1_Non-coding_Transcript	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	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	51222	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	uc001vzr.2	-	4	2106	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	ZNF219_uc001vzs.2_Missense_Mutation_p.P562L|ZNF219_uc010aik.1_Missense_Mutation_p.P562L	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	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
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	T	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.chr3:195505842T>G	uc021xjp.1	-	1	12765	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597000													2	3					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	uc004bfr.3	-	17	2655	c.2520G>T	c.(2518-2520)gtG>gtT	p.V840V	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.V801V|C9orf84_uc010mug.3_Silent_p.V751V	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	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					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	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.chr10:37430773G>A	uc021ppc.1	+	6	879	c.780G>A	c.(778-780)acG>acA	p.T260T	ANKRD30A_uc001iza.1_Silent_p.T260T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGACACGGCTGAAAGCT	0.493000													3	39					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	uc003knk.3	-	1	536	c.208G>C	c.(208-210)Ggt>Cgt	p.G70R	ST8SIA4_uc003knl.3_Missense_Mutation_p.G70R	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	70					N-glycan processing|axon guidance	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	uc003kii.3	+	10	9918	c.9562C>T	c.(9562-9564)Cgc>Tgc	p.R3188C	VCAN_uc003kij.3_Missense_Mutation_p.R2201C|VCAN_uc010jau.2_Missense_Mutation_p.R1434C|VCAN_uc003kik.3_Missense_Mutation_p.R447C|VCAN_uc003kil.3_Missense_Mutation_p.R1852C	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3188	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R3187Q(1)		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
DUS2L	54920	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	uc002evi.3	+	12	791	c.642_splice	c.e12-1	p.N214_splice	DUS2L_uc002evj.3_Splice_Site_p.N214_splice|DUS2L_uc010vkk.2_Splice_Site_p.N179_splice	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	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
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	uc004dfb.3	+	6	1349	c.716A>G	c.(715-717)gAt>gGt	p.D239G	USP9X_uc004dfc.3_Missense_Mutation_p.D239G	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	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	uc001blf.3	+	0	1513	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	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	uc003kgc.3	+	1	4009	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	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
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	uc001mdw.4	+	41	13997	c.13433G>A	c.(13432-13434)cGg>cAg	p.R4478Q	DNHD1_uc001mea.4_Missense_Mutation_p.R747Q|DNHD1_uc001meb.3_3'UTR|DNHD1_uc001mec.3_Missense_Mutation_p.R746Q|DNHD1_uc010rao.2_Missense_Mutation_p.R736Q|DNHD1_uc009yfg.3_Missense_Mutation_p.R103Q	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4478					microtubule-based movement	dynein complex	microtubule motor activity	p.R4478Q(2)		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
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	uc001ftg.3	+	4	1257	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	IFI16_uc010pis.2_Missense_Mutation_p.H267Y|IFI16_uc010pit.2_Missense_Mutation_p.H323Y|IFI16_uc001ftf.1_Missense_Mutation_p.H323Y	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	323	HIN-200 1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|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
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	uc002wpg.2	-	13	1620	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	KIF16B_uc010gch.2_Silent_p.T487T|KIF16B_uc010gci.2_Silent_p.T487T|KIF16B_uc010gcj.2_Silent_p.T487T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	487	FHA.				Golgi to endosome transport|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|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
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	uc003ncc.3	+	4	1306	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	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
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	uc001tme.1	-	1	2709	c.890C>T	c.(889-891)cCa>cTa	p.P297L	MTERFD3_uc001tmf.1_Missense_Mutation_p.P297L|MTERFD3_uc001tmg.1_Missense_Mutation_p.P297L|MTERFD3_uc021rdh.1_Missense_Mutation_p.P297L|MTERFD3_uc001tmh.1_Missense_Mutation_p.P297L	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	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	uc003dhz.3	+	13	1973	c.1886G>A	c.(1885-1887)tGt>tAt	p.C629Y	CCDC66_uc003dhy.3_Missense_Mutation_p.C265Y|CCDC66_uc003dhu.3_Missense_Mutation_p.C595Y|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_5'UTR	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	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	uc021vsy.1	-	159	32353	c.32128G>A	c.(32128-32130)Gtt>Att	p.V10710I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11637	Glu-rich.|Pro-rich.						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
KIAA0564	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	uc001uyj.3	-	34	4273	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1401						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTCCTCTATAGAATGATGTAT	0.393000													7	28					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	uc003ypc.1	+	15	1850	c.1805A>T	c.(1804-1806)gAt>gTt	p.D602V		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	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	uc002ggx.1	+	2	1304	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Missense_Mutation_p.S344L|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	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
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	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.chr3:195505851T>C	uc021xjp.1	-	1	12756	c.12600A>G	c.(12598-12600)tcA>tcG	p.S4200S	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	963					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592000													2	2					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	uc004bcr.3	+	10	1529	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	FKTN_uc011lvx.2_Intron|FKTN_uc004bcs.3_Missense_Mutation_p.R438H|FKTN_uc011lvy.2_3'UTR|FKTN_uc010mtm.3_Missense_Mutation_p.R306H	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	438					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|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	uc001jrx.4	+	45	6927	c.6537C>T	c.(6535-6537)agC>agT	p.S2179S	CDH23_uc001jsg.4_5'Flank|CDH23_uc001jsh.4_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	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	uc002pke.4	+	1	984	c.873C>T	c.(871-873)ttC>ttT	p.F291F	FUT2_uc010emc.3_Silent_p.F291F|FUT2_uc021uwx.1_Silent_p.F291F	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	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	uc021vft.1	+	24	3804	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N	LTBP1_uc002rou.3_Missense_Mutation_p.D935N|LTBP1_uc002rov.3_Missense_Mutation_p.D882N|LTBP1_uc010ymz.2_Intron|LTBP1_uc010yna.2_Intron|LTBP1_uc010ynb.2_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	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	uc002ttp.3	-	16	5799	c.5425C>T	c.(5425-5427)Ccc>Tcc	p.P1809S	NCKAP5_uc002ttq.3_Missense_Mutation_p.P490S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	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	uc001wow.3	-	11	1993	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_uc010toh.2_Missense_Mutation_p.R211H|ADCY4_uc001wox.3_Missense_Mutation_p.R525H|ADCY4_uc001woy.3_Missense_Mutation_p.R525H	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	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	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	p.R525C(1)		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
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	uc009xez.1	+	15	4868	c.4824C>T	c.(4822-4824)gcC>gcT	p.A1608A	OBSCN_uc001hsn.3_Silent_p.A1608A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1608	Ig-like 16.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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
PI4K2A	55361	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	uc010qoy.1	+	0	469	c.110G>C	c.(109-111)gGt>gCt	p.G37A	PI4K2A_uc001knx.2_Missense_Mutation_p.G37A|PI4K2A_uc001kny.3_Missense_Mutation_p.G37A|PI4K2A_uc001knz.3_Missense_Mutation_p.G37A	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	0					phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	p.G37V(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		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	uc002hxq.2	-	9	2006	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.R577C|JUP_uc002hxs.2_Missense_Mutation_p.R577C	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	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 Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase 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	uc001iew.1	-	1	690	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SH3BP5L_uc001iev.1_5'UTR|MIR3124_uc021pmd.1_5'Flank	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	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					0	0	1	0	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	uc003nqh.3	-	6	2220	c.829C>A	c.(829-831)Cgg>Agg	p.R277R	GNL1_uc011dmi.2_Silent_p.R139R|GNL1_uc011dmj.2_Silent_p.R275R|GNL1_uc011dmk.2_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	277					T cell mediated immunity|response to DNA damage stimulus|signal transduction	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	0	1	0	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	uc001nda.3	+	15	2005	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	ATG13_uc009yld.3_Silent_p.S426S|ATG13_uc001ndb.3_Silent_p.S426S|ATG13_uc001ncz.3_Silent_p.S389S|ATG13_uc001ndc.3_Silent_p.S389S|ATG13_uc010rgv.2_Silent_p.S310S	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	426					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	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	uc021rxf.1	+	0	1814	c.1814C>A	c.(1813-1815)aCc>aAc	p.T605N	FLRT2_uc001xvr.3_Missense_Mutation_p.T605N|FLRT2_uc010atd.3_Missense_Mutation_p.T605N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	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					0	0	1	0	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	uc003uxl.1	+	9	2945	c.2145_splice	c.e9-2	p.R715_splice	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.1_Splice_Site					SubName: Full=Intestinal mucin; Flags: Fragment;											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	uc001isp.2	+	1	624	c.121G>A	c.(121-123)Gga>Aga	p.G41R	GAD2_uc009xkr.3_Missense_Mutation_p.G41R|GAD2_uc001isq.2_Missense_Mutation_p.G41R	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	41					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|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
NBPF16	728936	broad.mit.edu	37	1	148753300	148753300	+	Silent	SNP	A	A	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.chr1:148753300A>C	uc010pba.1	+	11	1508	c.1317A>C	c.(1315-1317)tcA>tcC	p.S439S	NBPF16_uc009wkt.1_Silent_p.S219S	NM_001102663	NP_001096133			Homo sapiens neuroblastoma breakpoint family, member 16 (NBPF16), mRNA.											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					TGCAGGACTCACTGGATAGAT	0.468000													6	37					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	uc002llw.2	+	0	761	c.708A>T	c.(706-708)caA>caT	p.Q236H	ZNF407_uc010xfc.2_Missense_Mutation_p.Q236H|ZNF407_uc010dqu.2_Missense_Mutation_p.Q236H|ZNF407_uc002llu.2_Missense_Mutation_p.Q235H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	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
TXNDC2	84203	broad.mit.edu	37	18	9887461	9887461	+	Missense_Mutation	SNP	A	A	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.chr18:9887461A>C	uc002koi.4	+	1	1434	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	TXNDC2_uc002koh.4_Missense_Mutation_p.I262L|TXNDC2_uc021ugx.1_Missense_Mutation_p.I262L	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGAGGGTGACATCCCCAAGTC	0.592000													4	96					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826910	50826910	+	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.chr19:50826910G>T	uc002pru.1	-	1	1595	c.1300C>A	c.(1300-1302)Ctg>Atg	p.L434M	KCNC3_uc002prt.1_Missense_Mutation_p.L70M	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	434					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G433E(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AGCACGCGCAGCCCCACGAAG	0.637000													6	29					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542011	154542011	+	Frame_Shift_Del	DEL	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	uc001ffg.3	+	1	402	c.138delC	c.(136-138)atcfs	p.I46fs		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	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	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47744589	47744591	+	In_Frame_Del	DEL	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	uc009ylv.3	-	14	2895_2897	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P	FNBP4_uc001ngj.3_In_Frame_Del_p.821_822PP>P	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	914	Pro-rich.							p.P914P(2)		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	-	-	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	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		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	-	-			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	uc002gjd.2	+	0	90_92	c.88_90delGAG	c.(88-90)gagdel	p.E35del		NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	450					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	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	-	-			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	uc002pmw.3	+	21	3458	c.3350delC	c.(3349-3351)gccfs	p.A1117fs	TRPM4_uc010emu.3_Frame_Shift_Del_p.A972fs|TRPM4_uc010yak.2_Frame_Shift_Del_p.A581fs|TRPM4_uc002pmx.3_Frame_Shift_Del_p.A943fs|TRPM4_uc010emv.3_Frame_Shift_Del_p.A1002fs|TRPM4_uc010yal.2_Frame_Shift_Del_p.A763fs|TRPM4_uc002pmy.3_Frame_Shift_Del_p.A459fs	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	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	Golgi apparatus|endoplasmic reticulum|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	---	---	---	---					
JA660597	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	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	uc022cjg.1	+	0		c.18delC								Homo sapiens piRNA piR-32678, complete sequence.																		ATCGACACTTCGAACGCACTT	0.552													8	55	---	---	---	---					
