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
ZC4H2	55906	broad.mit.edu	37	X	64139085	64139085	+	Splice_Site	SNP	C	C	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:64139085C>A	uc004dvu.3	-	4	555	c.399_splice	c.e4-1	p.D133_splice	ZC4H2_uc004dvv.3_Splice_Site_p.D110_splice|ZC4H2_uc022byd.1_Splice_Site_p.D110_splice|ZC4H2_uc022byc.1_Splice_Site_p.D110_splice|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Splice_Site_p.D110_splice|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	133							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAAAGTAACTTTGGAGATG	0.532000													21	49					7.87624e-14	8.0221e-14	1	1	0
BLK	640	broad.mit.edu	37	8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	rs142352008	byFrequency	TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr8:11400849C>T	uc003wty.3	+	1	697	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532000													17	17					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772950	229772950	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:229772950A>G	uc001hts.1	+	3	2726	c.2590A>G	c.(2590-2592)Ata>Gta	p.I864V	URB2_uc009xfd.1_Missense_Mutation_p.I864V	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	864						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCCGAAGGTATAGAACCTAG	0.502000													39	70					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395557	154395557	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:154395557G>A	uc010jih.1	+	0	2298	c.2138G>A	c.(2137-2139)cGa>cAa	p.R713Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	713	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.G748V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAACAAGCGACTCAAGGAT	0.483000													28	72					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107007	107007	+	RNA	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrGL000211.1:107007G>A	uc003boa.3	+	3		c.706G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCCTGGTTAGCAGAAAATGC	0.408000													5	214					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291550	22291550	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:22291550G>A	uc004dai.2	+	0	521	c.442G>A	c.(442-444)Gct>Act	p.A148T		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	148						intracellular	zinc ion binding	p.S147R(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGTTACCAGCGCTTCGCTTGA	0.438000													39	55					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:158612230C>T	uc001fst.1	-	32	4907	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1570				Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453000													21	75					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119669687	119669687	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:119669687C>G	uc004esw.3	-	17	2649	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	CUL4B_uc010nqq.3_Missense_Mutation_p.E439Q|CUL4B_uc004esv.3_Missense_Mutation_p.E720Q	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	738					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.E738Q(2)|p.E720Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTTACCTCTTTAAATTCT	0.353000													44	119					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219544418	219544418	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:219544418C>T	uc002viu.3	+	7	1193	c.914C>T	c.(913-915)gCc>gTc	p.A305V	STK36_uc002viv.3_Missense_Mutation_p.A305V	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	305					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGACTCAGGCCTATAAACGC	0.557000													19	48					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11174686	11174686	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:11174686C>T	uc004cup.1	-	9	2743	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.V624M|ARHGAP6_uc004cum.1_Missense_Mutation_p.V421M|ARHGAP6_uc004cun.1_Missense_Mutation_p.V444M|ARHGAP6_uc010neb.1_Missense_Mutation_p.V446M|ARHGAP6_uc011mif.1_Missense_Mutation_p.V421M	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	624					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAATAGTCCACGACATCAGGA	0.443000													11	23					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718589	80718589	+	Silent	SNP	G	G	A	rs140729164		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:80718589G>A	uc002ffs.3	-	1	567	c.462C>T	c.(460-462)aaC>aaT	p.N154N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	154						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTTCCATCCCGTTCTGAGACT	0.532000													23	73					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891723	45891723	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:45891723C>T	uc010rgn.2	+	7	1399	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	CRY2_uc009ykw.3_Silent_p.G377G|CRY2_uc010rgo.2_Silent_p.G181G	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	438	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding	p.G438G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGGGCTTTGGCCGTCGCACGG	0.587000													4	101					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618726	20618726	+	Silent	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:20618726G>A	uc003gpr.1	+	34	4245	c.4041G>A	c.(4039-4041)caG>caA	p.Q1347Q	SLIT2_uc003gps.1_Silent_p.Q1339Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1347	EGF-like 7.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACATGCCAGCCCAGCAGCC	0.577000													7	72					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:91967356T>A	uc001doe.3	+	1	248	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_uc001dof.3_Nonsense_Mutation_p.L28*|CDC7_uc010osw.2_Nonsense_Mutation_p.L28*|CDC7_uc009wdc.3_Nonsense_Mutation_p.L28*	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	28					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000													4	54					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285528	48285528	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:48285528G>A	uc010rht.2	+	0	116	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTTGTGCTGGGCAATGGCCTC	0.463000													11	30					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373545	126373545	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:126373545C>T	uc003ifj.4	+	8	11374	c.11374C>T	c.(11374-11376)Cgg>Tgg	p.R3792W	FAT4_uc011cgp.2_Missense_Mutation_p.R2090W|FAT4_uc003ifi.1_Missense_Mutation_p.R1270W	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3792					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCCTTCTCCGGCAGAGTGG	0.483000													18	55					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109416566	109416566	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:109416566A>C	uc004eom.3	+	6	1120	c.781A>C	c.(781-783)Act>Cct	p.T261P	TMEM164_uc004eon.2_Missense_Mutation_p.T112P|TMEM164_uc010npq.3_Missense_Mutation_p.T222P	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	261						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGGACACCAGACTCTCATGAC	0.552000													28	68					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153730172	153730172	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:153730172A>G	uc009wom.3	+	10	1303	c.1082A>G	c.(1081-1083)aAt>aGt	p.N361S	INTS3_uc001fct.3_Missense_Mutation_p.N361S|INTS3_uc001fcu.3_Missense_Mutation_p.N53S|INTS3_uc001fcv.3_Missense_Mutation_p.N155S|INTS3_uc010peb.2_Missense_Mutation_p.N155S|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	362					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACCCTTCTAATGAAGTACTG	0.527000													7	90					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193111017	193111017	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:193111017G>C	uc001gtb.3	+	6	793	c.550G>C	c.(550-552)Gca>Cca	p.A184P		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	184				AIKA -> CNQT (in Ref. 2; BAB15608).	cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAAAATTGCTGCAATCAAAGC	0.348000													8	11					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								19	37					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73770855	73770855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr7:73770855G>A	uc003uam.3	+	4	1246	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	CLIP2_uc003uan.3_Missense_Mutation_p.G307S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	307						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TATGGCCATGGGTGTGTCAGC	0.617000													26	66					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111319659	111319659	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:111319659C>T	uc003dxw.3	+	7	1203	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	CD96_uc003dxv.3_Missense_Mutation_p.P329S|CD96_uc003dxx.3_Missense_Mutation_p.P329S|CD96_uc010hpy.1_Missense_Mutation_p.P329S	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	345	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGTAATAAACCAGCCCAATC	0.378000									Opitz Trigonocephaly syndrome				18	42					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:160786805C>T	uc003fdr.3	+	3	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_uc003fds.3_Nonsense_Mutation_p.R136*|PPM1L_uc003fdt.3_Nonsense_Mutation_p.R188*|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	315	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473000													4	96					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515295	56515295	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:56515295C>T	uc002qmj.3	+	1	276	c.276C>T	c.(274-276)acC>acT	p.T92T	NLRP5_uc002qmi.3_Silent_p.T92T	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	92	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGAATCGACCACATGCTCTA	0.453000													17	18					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555137	41555137	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:41555137G>A	uc022bvc.1	+	0	251	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.R84H|GPR34_uc004dfq.4_Missense_Mutation_p.R84H|GPR34_uc010nhg.3_Missense_Mutation_p.R84H|GPR34_uc004dfr.4_Missense_Mutation_p.R84H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	84						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R84H(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383000													4	126					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232135764	232135764	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:232135764G>C	uc002vrq.4	+	12	1301	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	ARMC9_uc002vrp.4_Missense_Mutation_p.A397P|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	397							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTCATCAATGCTTTTGCGTC	0.493000													12	33					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34958397	34958397	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr17:34958397T>C	uc002hne.3	+	0	373	c.158T>C	c.(157-159)tTt>tCt	p.F53S	MRM1_uc002hnf.3_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	53					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GAGCTTCTGTTTGGCATGACC	0.692000													45	102					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16142351	16142351	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:16142351C>T	uc004cxj.3	+	0	928	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	92					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCTAATAACGTGTGCTCCA	0.488000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	98					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43343605	43343605	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:43343605C>T	uc010rfh.1	+	4	635	c.462C>T	c.(460-462)ttC>ttT	p.F154F	API5_uc001mxf.2_Silent_p.F154F|API5_uc010rfg.1_Silent_p.F143F|API5_uc010rfi.1_Silent_p.F100F|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Silent_p.F28F	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	154					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.K153N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAATTAAATTCCTTTCTACAA	0.378000													20	46					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69669655	69669655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:69669655C>T	uc004dyi.2	+	3	996	c.649C>T	c.(649-651)Cga>Tga	p.R217*	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	217	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGCGGAGGCGACAGCCTCC	0.662000													8	16					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99673043	99673043	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr15:99673043C>T	uc002bup.3	+	4	4595	c.4475C>T	c.(4474-4476)gCg>gTg	p.A1492V	SYNM_uc002buo.3_Missense_Mutation_p.A1180V|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1493	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGGAGAGACGCGGACAGTAGG	0.572000													4	125					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151908875	151908875	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:151908875G>C	uc004fge.3	+	3	442	c.114G>C	c.(112-114)agG>agC	p.R38S	CSAG1_uc004fgf.3_Missense_Mutation_p.R38S|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	38										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGTCCAGGAAACCACGAG	0.572000													21	359					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38171320	38171320	+	Splice_Site	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr13:38171320C>T	uc001uwo.4	-	2	336	c.218_splice	c.e2+1	p.T73_splice	POSTN_uc001uwp.4_Splice_Site_p.T73_splice|POSTN_uc001uwr.3_Splice_Site_p.T73_splice|POSTN_uc001uwq.3_Splice_Site_p.T73_splice|POSTN_uc010teu.1_Splice_Site_p.T73_splice|POSTN_uc010tev.1_Splice_Site_p.T73_splice|POSTN_uc010tew.1_Splice_Site_p.T73_splice|POSTN_uc010tex.1_Splice_Site	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	73	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AAGAGACTTACGTTTTCTGTC	0.378000													10	13					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130562	117130562	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr6:117130562G>A	uc003pxj.1	-	1	435	c.413C>T	c.(412-414)cCa>cTa	p.P138L	GPRC6A_uc003pxk.1_Missense_Mutation_p.P138L|GPRC6A_uc003pxl.1_Missense_Mutation_p.P138L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	138					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTAACTCTTGGCATGTAGCT	0.443000													13	37					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1294250	1294250	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:1294250C>T	uc003jcb.1	-	1	809	c.751G>A	c.(751-753)Gtt>Att	p.V251I	TERT_uc003jcc.1_Missense_Mutation_p.V251I|TERT_uc003jca.1_Missense_Mutation_p.V251I|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	251	Linker.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGCCCAACGGGCGTCCGC	0.726000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				6	8					0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728876	68728876	+	RNA	SNP	A	A	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr9:68728876A>G	uc022bhu.1	+	2		c.661A>G			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		gaaaaagagaagaagatgaag	0.274000													6	60					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584537	145584537	+	Silent	SNP	G	G	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr8:145584537G>C	uc003zcc.2	+	4	1364	c.1200G>C	c.(1198-1200)ggG>ggC	p.G400G	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.G400G|SLC52A2_uc010mfy.2_Silent_p.G400G|SLC52A2_uc011llc.2_Silent_p.G312G|SLC52A2_uc003zcd.2_Silent_p.G400G	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	400						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGCATGGCGGGGGCCGGCCGG	0.657000													9	102					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109183011	109183011	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr12:109183011T>C	uc001tnm.3	-	14	1990	c.1903A>G	c.(1903-1905)Ata>Gta	p.I635V	SSH1_uc001tnl.3_Missense_Mutation_p.I323V	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	635					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCCAAATATAGCATCATCC	0.547000													4	12					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48830666	48830666	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:48830666C>T	uc004dly.1	-	25	2500	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	KCND1_uc004dlx.1_5'Flank	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	822						early endosome		p.R465Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTTGCTGAGCCGCACAATTTC	0.567000													9	24					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284225	45284225	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:45284225C>T	uc002ozs.3	+	1	480	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CBLC_uc010ejt.3_Silent_p.F139F	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	139	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACGCACTCTTCCCCGGGGGAA	0.617000			M		AML								28	31					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873968	76873968	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:76873968A>G	uc001oyb.2	+	13	1896	c.1624A>G	c.(1624-1626)Aag>Gag	p.K542E	MYO7A_uc010rsl.2_Missense_Mutation_p.K542E|MYO7A_uc010rsm.1_Missense_Mutation_p.K531E|MYO7A_uc001oyc.2_Missense_Mutation_p.K542E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	542	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCCCCCCAAGAACAACCA	0.567000													97	156					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106054	186106054	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:186106054C>T	uc001grq.1	+	86	13796	c.13567C>T	c.(13567-13569)Cca>Tca	p.P4523S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P92S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4523	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCAGAGTGCCAGTCATAGT	0.398000													4	122					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414962	42414962	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:42414962T>C	uc003gwr.2	-	36	3698	c.3466A>G	c.(3466-3468)Acc>Gcc	p.T1156A	ATP8A1_uc003gwq.2_Missense_Mutation_p.T382A|ATP8A1_uc003gws.2_Missense_Mutation_p.T1141A|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1156					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTTTCGTGGTATCATATGCT	0.463000													10	38					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:4944606C>T	uc002cyd.1	-	11	1346	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647000													18	45					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	880	880	+	RNA	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrGL000237.1:880C>T	uc011mgu.1	-	1		c.338G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ccgtggctgccacaaccgcag	0.582000													5	67					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16174599	16174599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:16174599delT	uc001axk.1	+	0	241	c.37delT	c.(37-39)ttafs	p.L13fs	FLJ37453_uc001axj.2_Intron	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	13	RRM 1.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGTGGGCAACTTACCCGAGAA	0.687													2	4	---	---	---	---					
FUBP1	8880	broad.mit.edu	37	1	78444597	78444597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:78444597delA	uc001dii.3	-	0	181	c.92delT	c.(91-93)ttcfs	p.F31fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.F31fs|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	31					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGCATCTTTGAAAGCGTCGTT	0.612			"""F, N"""		oligodendroglioma								77	72	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	AGC	-	rs76272937		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	6	---	---	---	---					
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:153688564_153688565insG	uc004flm.3	+	1	214_215	c.41_42insG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													8	94	---	---	---	---					
