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
CD209	30835	broad.mit.edu	37	19	7810835	7810835	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:7810835T>C	uc002mht.2	-	3	384	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.Q82R|CD209_uc002mhr.2_Missense_Mutation_p.Q82R|CD209_uc002mhs.2_Missense_Mutation_p.Q82R|CD209_uc002mhu.2_Missense_Mutation_p.Q106R|CD209_uc010dvq.2_Missense_Mutation_p.Q106R|CD209_uc002mhq.2_Missense_Mutation_p.Q106R|CD209_uc002mhv.2_Missense_Mutation_p.Q82R|CD209_uc002mhx.2_Missense_Mutation_p.Q62R|CD209_uc002mhw.2_Missense_Mutation_p.Q62R|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	106	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCTGGGTCAGCTC	0.562000													6	177					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726522	12726522	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:12726522G>A	uc001auf.3	+	3	1000	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	334						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGAGGTCATCGCTCAGCTTCC	0.517000													5	126					0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100071830	100071830	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:100071830G>A	uc011lut.2	+	16	1759	c.753G>A	c.(751-753)caG>caA	p.Q251Q	C9orf174_uc004axe.2_Silent_p.Q251Q|C9orf174_uc011lus.2_Silent_p.Q112Q|C9orf174_uc004axg.2_Silent_p.Q112Q|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Silent_p.Q112Q|C9orf174_uc011luv.1_Silent_p.Q112Q	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	251						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						CCCGACAGCAGAAGTGGATGC	0.572000													8	72					0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42404698	42404698	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr13:42404698T>G	uc001uyj.3	-	13	1737	c.1667A>C	c.(1666-1668)gAg>gCg	p.E556A	KIAA0564_uc001uyk.3_Missense_Mutation_p.E556A	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	556						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)		CAGTTGCAGCTCCTCCTTTAA	0.368000													10	47					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88887559	88887559	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:88887559T>C	uc002stc.4	-	7	1672	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	457					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.D457G(1)		ovary(3)	3						AGAAAACTTATCATTACTGAG	0.264000													5	91					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41957294	41957294	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:41957294G>A	uc010win.1	-	9	1395	c.792C>T	c.(790-792)tcC>tcT	p.S264S	MPP2_uc002ien.1_Silent_p.S420S|MPP2_uc010wim.1_Silent_p.S392S|MPP2_uc002ieo.1_Silent_p.S403S|MPP2_uc010wio.1_Silent_p.S392S|MPP2_uc010wip.1_Silent_p.S448S			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	427	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTCCCCACGGGACACAAAGC	0.627000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	114					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72741504	72741504	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:72741504A>G	uc010wrc.2	+	8	831	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	RAB37_uc002jlc.2_3'UTR|RAB37_uc002jld.2_3'UTR|RAB37_uc010dfu.3_Missense_Mutation_p.Y202C|RAB37_uc010wrb.2_Missense_Mutation_p.Y177C|RAB37_uc002jlk.3_Missense_Mutation_p.Y209C|RAB37_uc010wre.2_Missense_Mutation_p.Y172C	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	209					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ATCCGAGACTATGTAGAGTCC	0.612000													4	109					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48718172	48718172	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:48718172A>G	uc002rwm.3	+	14	1647	c.1462A>G	c.(1462-1464)Agc>Ggc	p.S488G	PPP1R21_uc002rwj.3_Missense_Mutation_p.S488G|PPP1R21_uc002rwl.3_Missense_Mutation_p.S442G|PPP1R21_uc002rwk.3_Missense_Mutation_p.S488G|PPP1R21_uc010yok.2_Missense_Mutation_p.S488G	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	488										endometrium(2)|kidney(4)|lung(9)	15						ATCCTTCTTCAGCAACAATTT	0.343000													19	112					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152162	151152162	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:151152162G>A	uc011eem.1	+	14	2180	c.2092G>A	c.(2092-2094)Ggg>Agg	p.G698R	PLEKHG1_uc011eel.1_Missense_Mutation_p.G679R|PLEKHG1_uc003qny.1_Missense_Mutation_p.G639R|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	639					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAAACAGAAGGGCAGGAGGA	0.473000													4	26					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903197	40903197	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:40903197G>A	uc002onr.3	-	6	1331	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	PRX_uc002onq.3_Silent_p.A215A|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	354					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			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)			GCATCTTCAGGGCCACCTCAG	0.642000													3	70					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123980084	123980084	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:123980084G>A	uc003ktq.1	-	4	4159	c.3976C>T	c.(3976-3978)Cgg>Tgg	p.R1326W	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Missense_Mutation_p.R21W	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1326						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTTGTTCCCCGAGAGTCCTTC	0.493000													4	125					0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7904855	7904855	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:7904855G>A	uc003mxv.3	-	1	403	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TXNDC5_uc003mxw.3_Missense_Mutation_p.T79M|TXNDC5_uc010jnz.3_Missense_Mutation_p.T14M|TXNDC5_uc010joa.2_Missense_Mutation_p.T14M	NM_030810	NP_001139021	Q8NBS9	TXND5_HUMAN	Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA.	122	Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	p.T122M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GGAGTGGGCCGTGCAGTCCAC	0.577000													3	44					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020136	56020136	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:56020136T>C	uc010rjd.2	+	0	461	c.461T>C	c.(460-462)gTa>gCa	p.V154A		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATCACTATGTAGCCATCTAC	0.423000													7	173					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103055173	103055173	+	Silent	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103055173T>C	uc004bap.1	+	13	2846	c.2634T>C	c.(2632-2634)gaT>gaC	p.D878D	INVS_uc011lve.1_Silent_p.D782D|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Silent_p.D782D|INVS_uc010mtb.1_Silent_p.D552D	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	878					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGGAGACTGATCCAGCACCTG	0.527000													3	56					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537935	27537935	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:27537935T>G	uc001its.2	-	0	3301	c.1458A>C	c.(1456-1458)gaA>gaC	p.E486D						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		AGGCCTACTGTTCCTCTGGTG	0.507000													3	131					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30729618	30729618	+	Silent	SNP	C	C	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr20:30729618C>A	uc002wxj.2	+	4	683	c.448C>A	c.(448-450)Cga>Aga	p.R150R	TM9SF4_uc010ztr.1_Silent_p.R76R|TM9SF4_uc010zts.1_Silent_p.R57R|TM9SF4_uc002wxk.2_Silent_p.R133R	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	150						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTACTCCAACCGAGACAGCGA	0.562000													4	138					0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148288133	148288133	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr7:148288133G>A	uc003wew.3	+	0	477	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	39								p.L38F(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTGACCTTCGCCTGAGTGGG	0.557000													20	78					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419969	19419969	+	RNA	SNP	T	T	C	rs76149397		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr13:19419969T>C	uc010tcj.1	-	0		c.26141A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GACAAATTCATTGGTTTAGTT	0.303000													5	81					0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931635	102931635	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:102931635G>A	uc022cbw.1	-	0	321	c.321C>T	c.(319-321)ccC>ccT	p.P107P	MORF4L2_uc004ekw.3_Silent_p.P107P|MORF4L2_uc004ela.3_Silent_p.P107P|MORF4L2_uc004elb.3_Silent_p.P107P|MORF4L2_uc004ekx.3_Silent_p.P107P|MORF4L2_uc004eky.3_Silent_p.P107P|MORF4L2_uc010nos.3_Silent_p.P107P|MORF4L2_uc004ekz.3_Silent_p.P107P|MORF4L2_uc011mry.2_Silent_p.P107P|MORF4L2_uc011mrz.2_Silent_p.P107P|MORF4L2_uc004elc.3_Silent_p.P107P|MORF4L2_uc004ele.3_Silent_p.P107P|MORF4L2_uc004elf.3_Silent_p.P107P|MORF4L2_uc011msa.2_Silent_p.P107P|MORF4L2_uc011msb.2_Silent_p.P107P|MORF4L2_uc011msc.2_Silent_p.P107P|MORF4L2_uc011msd.2_Silent_p.P107P|MORF4L2_uc004eld.3_Silent_p.P107P	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	107					DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTCAACAGTGGGGTCTGCCC	0.493000													4	81					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	48					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	70					0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009355	213009355	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:213009355A>G	uc001hjq.3	-	1	245	c.137T>C	c.(136-138)gTt>gCt	p.V46A		NM_001024601	NP_001019772	Q537H7	CA227_HUMAN	Homo sapiens chromosome 1 open reading frame 227 (C1orf227), mRNA.	46										kidney(1)|large_intestine(1)|lung(1)	3						CCTCTTTTGAACTCTCAGTAA	0.468000													22	130					0	0	1	0	0
GPR150	285601	broad.mit.edu	37	5	94956112	94956112	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:94956112C>G	uc003kle.1	+	0	133	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	Homo sapiens G protein-coupled receptor 150 (GPR150), mRNA.	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CCGCCGCGTCCGCCTGGTGTT	0.726000													6	25					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9936196	9936196	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr18:9936196G>C	uc002kok.3	+	2	621	c.322G>C	c.(322-324)Gat>Cat	p.D108H	VAPA_uc002koj.3_Missense_Mutation_p.D108H	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 2, mRNA.	108	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						AAACACTTCAGATATGGAAGC	0.348000													4	107					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296448	145296448	+	Missense_Mutation	SNP	T	T	A	rs4996268	by1000genomes	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:145296448T>A	uc021oul.1	+	2	405	c.370T>A	c.(370-372)Tat>Aat	p.Y124N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.Y124N|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	124								p.Y124N(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGCTCATTGTATGAGCATCT	0.562000													7	203					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616605	79616605	+	RNA	SNP	C	C	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:79616605C>G	uc011ctk.1	-	0		c.1054G>C			SPZ1_uc003kgn.3_Missense_Mutation_p.Q191E			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353000													3	55					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885744	29885744	+	Silent	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr22:29885744T>C	uc003afo.3	+	3	2186	c.2115T>C	c.(2113-2115)ccT>ccC	p.P705P	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	711	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAAGTCCCCTGAGAAGGCCA	0.562000													4	120					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2589	2589	+	RNA	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrGL000237.1:2589C>T	uc011mgu.1	-	0		c.98G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		agacgagccacggtgttacag	0.607000													4	14					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600296	54600296	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:54600296G>A	uc002qdd.3	-	3	418	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	OSCAR_uc002qcy.3_Missense_Mutation_p.R80W|OSCAR_uc002qcz.3_Missense_Mutation_p.R76W|OSCAR_uc002qda.3_Missense_Mutation_p.R80W|OSCAR_uc002qdb.3_Missense_Mutation_p.R65W|OSCAR_uc010erc.3_Missense_Mutation_p.P43L|OSCAR_uc002qdc.3_Missense_Mutation_p.R90W|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	76	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GACACATCCCGGAAGAGAAGG	0.597000													3	85					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50862022	50862022	+	Silent	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr22:50862022C>T	uc003blb.2	+	10	1526	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PPP6R2_uc003blc.3_Silent_p.L368L|PPP6R2_uc003bky.2_Silent_p.L368L|PPP6R2_uc003bla.2_Silent_p.L369L|PPP6R2_uc003bkz.2_Silent_p.L368L|AB372727_uc011arw.2_5'Flank	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	368						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCTGCCGGCTCAACACGATGG	0.627000													4	45					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57301240	57301240	+	Splice_Site	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:57301240C>T	uc002qnr.2	-	8	859	c.477_splice	c.e8+1	p.Q159_splice	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Splice_Site|PEG3_uc010ygq.1_Splice_Site|PEG3_uc010etp.2_Splice_Site_p.Q159_splice|PEG3_uc010ygs.1_Splice_Site_p.Q159_splice|PEG3_uc002qnq.2_Splice_Site_p.Q159_splice	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	298					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTGACTCACCTGGGACCCAG	0.433000													4	20					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282306	28282306	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:28282306C>T	uc001bpg.3	+	5	993	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	SMPDL3B_uc001bpf.3_Missense_Mutation_p.R268C|SMPDL3B_uc010ofq.2_Missense_Mutation_p.R62C|SMPDL3B_uc010ofr.2_Missense_Mutation_p.R220C	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	268					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.H267Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAAGCATCATCGCGTCATAGC	0.562000													4	68					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11969590	11969590	+	Silent	SNP	C	C	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:11969590C>A	uc001mjs.3	+	20	3953	c.3190C>A	c.(3190-3192)Cga>Aga	p.R1064R	USP47_uc001mjr.3_Silent_p.R996R|USP47_uc009ygi.3_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1084					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R996*(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAGGTCTTTCGAGTGTATGC	0.398000													3	95					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858484	9858484	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr16:9858484C>A	uc010uym.2	-	13	3227	c.2917G>T	c.(2917-2919)Gat>Tat	p.D973Y	GRIN2A_uc002czo.4_Missense_Mutation_p.D973Y|GRIN2A_uc010uyn.2_Missense_Mutation_p.D816Y|GRIN2A_uc002czr.4_Missense_Mutation_p.D973Y	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	973					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGAGGTTATCCTTCTGCCGG	0.463000													12	74					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:53014565G>A	uc002pzp.4	+	5	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418000													3	84					0	0	1	0	0
OTUB1	55611	broad.mit.edu	37	11	63764357	63764357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:63764357G>T	uc001nyf.1	+	4	971	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	OTUB1_uc001nyg.1_Nonsense_Mutation_p.E166*|OTUB1_uc010rna.1_Nonsense_Mutation_p.E132*|OTUB1_uc009ypb.1_Nonsense_Mutation_p.E93*	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA.	123	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CAAGAGCAAGGAAGACCTGGT	0.622000													13	42					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947124	150947124	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:150947124G>A	uc003lue.4	-	0	1382	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F	FAT2_uc010jhx.1_Missense_Mutation_p.L457F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	457	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTGAAGAGGGGGGCATGG	0.552000													4	135					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410894	59410894	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr8:59410894A>G	uc003xtm.4	-	1	278	c.215T>C	c.(214-216)aTg>aCg	p.M72T		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	72					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATATTTTCCCATTAGTTTGCA	0.388000									Neonatal Giant Cell Hepatitis				33	134					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	49					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58386284	58386284	+	Silent	SNP	T	T	C	rs148592080	by1000genomes	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:58386284T>C	uc002qqo.2	-	2	746	c.474A>G	c.(472-474)gcA>gcG	p.A158A	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	158				A -> V (in Ref. 1; BAH13293).	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TACACCTCTTTGCAAACAACG	0.493000													3	65					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399500	46399500	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr3:46399500G>T	uc003cpn.4	+	1	967	c.482G>T	c.(481-483)aGt>aTt	p.S161I	CCR2_uc003cpm.4_Missense_Mutation_p.S161I|CCR2_uc021wxa.1_Missense_Mutation_p.S161I	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	161					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGTGACAAGTGTGATCACC	0.443000													5	253					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128147783	128147783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:128147783C>T	uc010qum.2	-	6	2044	c.2014G>A	c.(2014-2016)Gca>Aca	p.A672T	C10orf90_uc001ljp.3_Missense_Mutation_p.A431T|C10orf90_uc001ljq.3_Missense_Mutation_p.A575T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	575										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTTCCAGTGCTTCCTATGCA	0.483000													4	72					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348314	103348314	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103348314G>T	uc004bba.3	+	1	766	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	Homo sapiens muscle-related coiled-coil protein (MURC), mRNA.	226					cell differentiation|muscle organ development|transcription, DNA-dependent			p.I225I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AACTAGAATAGTGACCCCGGA	0.458000													5	177					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29074004	29074004	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:29074004C>T	uc002rmm.3	-	4	1278	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	416							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGTTGTACATCTGTGTTGATT	0.358000													4	43					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22924681	22924681	+	Silent	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:22924681C>T	uc001bfx.1	+	11	2279	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	718	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACATGGAGAACGGCTCTCTGG	0.617000													4	137					0	0	1	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027266	26027266	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:26027266G>A	uc003nfr.3	-	0	215	c.215C>T	c.(214-216)aCc>aTc	p.T72I		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	72					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CTCCGTGTAGGTCACGGCGTC	0.557000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	56					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419995	19419995	+	RNA	SNP	C	C	G	rs78291036	by1000genomes	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr13:19419995C>G	uc010tcj.1	-	0		c.26115G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAACTAAGAACAGTTAGATAA	0.294000													4	51					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:144815953A>G	uc009wig.1	+	10	1512	c.1318A>G	c.(1318-1320)Aat>Gat	p.N440D	NBPF10_uc010oxo.1_Missense_Mutation_p.N442D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N171D|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.N102D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	442								p.N184D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAACGATGACAATGAAGATGT	0.423000													8	153					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:6727803_6727804delTC	uc001aof.2	-	3	449_450	c.343_344delGA	c.(343-345)gaafs	p.E115fs	DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	115					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													11	67	---	---	---	---					
CAP1	10487	broad.mit.edu	37	1	40535451	40535451	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:40535451delT	uc009vvz.3	+	8	1112	c.898delT	c.(898-900)ttcfs	p.F300fs	CAP1_uc010oje.2_Frame_Shift_Del_p.F217fs|CAP1_uc001cfa.4_Frame_Shift_Del_p.F300fs|CAP1_uc001cey.4_Frame_Shift_Del_p.F300fs|CAP1_uc001cez.4_Frame_Shift_Del_p.F300fs	NM_006367	NP_006358	Q01518	CAP1_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein 1 (yeast) (CAP1), transcript variant 1, mRNA.	300					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCCAAACCATTCTCTGCACC	0.527													19	101	---	---	---	---					
LOC645676	645676	broad.mit.edu	37	1	155532591	155532593	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:155532591_155532593delCCT	uc010pge.2	+	0	820_822	c.496_498delCCT	c.(496-498)cctdel	p.P174del	ASH1L_uc001fkt.3_5'Flank|ASH1L_uc009wqq.3_5'Flank|ASH1L_uc009wqr.1_5'Flank|BC017347_uc001fkv.3_Intron					Homo sapiens uncharacterized LOC645676 (LOC645676), non-coding RNA.																		CAAGCCCAAGcctcctcctcctc	0.739													3	5	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165365288	165365288	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:165365288delT	uc002ucl.3	-	6	1432	c.891delA	c.(889-891)aaafs	p.K297fs	GRB14_uc010zcv.2_Frame_Shift_Del_p.K210fs	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	297	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K297fs*23(4)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGCTCCATGTTTTTTTTTGC	0.373													7	157	---	---	---	---					
OR52N5	390075	broad.mit.edu	37	11	5799652	5799652	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:5799652delA	uc010qzn.2	-	0	246	c.213delT	c.(211-213)tttfs	p.F71fs	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F71fs*59(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGCATGGCCAAAAAAAAAAT	0.428													10	134	---	---	---	---					
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	-	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:109561058_109561060delCCG	uc004eoo.3	-	0	321_323	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_uc004eop.3_In_Frame_Del_p.80_81GG>G|AMMECR1_uc004eoq.3_5'UTR	NM_015365	NP_001165160	Q9Y4X0	AMER1_HUMAN	Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1, mRNA.	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													2	4	---	---	---	---					
