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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MPZL1	9019	broad.mit.edu	37	1	167745333	167745333	+	Missense_Mutation	SNP	A	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:167745333A>C	uc001geo.3	+	4	840	c.638A>C	c.(637-639)aAg>aCg	p.K213T	MPZL1_uc001gep.3_Intron|MPZL1_uc001geq.3_Intron|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	213					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TCACCAGTTAAGCAGGCTCCT	0.413000														62			10		0	0	0.000673444	0	0
SLC25A38	54977	broad.mit.edu	37	3	39431018	39431018	+	Silent	SNP	C	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr3:39431018C>T	uc003cjo.2	+	1	503	c.102C>T	c.(100-102)ggC>ggT	p.G34G		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	34					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		p.G34G(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCCTGTGTGGCTCCATCAGTG	0.522000														71			21		0	0	0.000295444	0	0
ZNF132	7691	broad.mit.edu	37	19	58945194	58945194	+	Silent	SNP	T	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr19:58945194T>A	uc002qst.4	-	2	2018	c.1617A>T	c.(1615-1617)ggA>ggT	p.G539G		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	539						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AAGGCTTTTCTCCAGTGTGAA	0.478000														68			19		0	0	0.000958276	0	0
KLC4	89953	broad.mit.edu	37	6	43042368	43042368	+	Silent	SNP	G	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:43042368G>T	uc003otw.1	+	15	2191	c.1872G>T	c.(1870-1872)cgG>cgT	p.R624R	PTK7_uc003oub.1_5'Flank|PTK7_uc003ouc.1_5'Flank|PTK7_uc003oud.1_5'Flank|PTK7_uc003oue.1_5'Flank|PTK7_uc003ouf.1_5'Flank|PTK7_uc003oug.1_5'Flank|PTK7_uc011dve.1_5'Flank|KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Silent_p.R606R|KLC4_uc011dvd.1_Silent_p.R529R|KLC4_uc003otx.1_Silent_p.R606R|KLC4_uc003oty.1_Silent_p.R606R|KLC4_uc003otz.1_Silent_p.R606R|PTK7_uc003oua.3_5'Flank	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	606						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGGTCTCCCGGGGCCTCAGTG	0.607000														59			9		7.48243e-07	2.14918e-05	0.000442599	1	0
FBXL6	26233	broad.mit.edu	37	8	145579793	145579793	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr8:145579793T>C	uc003zcb.3	-	7	1383	c.1307A>G	c.(1306-1308)cAg>cGg	p.Q436R	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.Q163R|FBXL6_uc003zca.3_Missense_Mutation_p.Q430R|FBXL6_uc010mfx.3_Missense_Mutation_p.Q197R|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	436					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCACCACTTCTGGGTCAAAAA	0.592000														104			24		0	0	0.000586117	0	0
USPL1	10208	broad.mit.edu	37	13	31233386	31233386	+	Missense_Mutation	SNP	A	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr13:31233386A>C	uc001utc.2	+	8	3604	c.3172A>C	c.(3172-3174)Aag>Cag	p.K1058Q	USPL1_uc001utd.2_Missense_Mutation_p.K729Q|USPL1_uc001ute.1_Missense_Mutation_p.K729Q	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	1058					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAGTCCGATGAAGACTGATAT	0.373000														79			18		0	0	0.000566183	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86279	86279	+	RNA	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chrGL000211.1:86279G>A	uc003bnz.1	+	5		c.1027G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCTGTTACAGTGGTGAAATC	0.398000														3			3		0	0	0.00024832	0	0
FCRL4	83417	broad.mit.edu	37	1	157559028	157559028	+	Silent	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:157559028T>C	uc001fqw.3	-	2	409	c.273A>G	c.(271-273)ccA>ccG	p.P91P	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	91	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGTTACTTCGTGGGGAGCCCC	0.498000														105			26		0	0	0.000184323	0	0
DNAH5	1767	broad.mit.edu	37	5	13928214	13928214	+	Missense_Mutation	SNP	T	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr5:13928214T>A	uc003jfd.2	-	2	308	c.266A>T	c.(265-267)gAa>gTa	p.E89V	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	89	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTTCTGCTTCCTCCACATC	0.378000									Kartagener syndrome					75			17		0	0	0.000566183	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	C	C	rs149439944	by1000genomes	TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:39274291T>C	uc002hvz.3	-	0	316	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(8)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000														63			5		0	0	0.000274275	0	0
ALKBH5	54890	broad.mit.edu	37	17	18111630	18111630	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:18111630C>T	uc010cpw.3	+	3	1796	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C		NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	Homo sapiens alkB, alkylation repair homolog 5 (E. coli) (ALKBH5), mRNA.	369						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GAACTACTGGCGCAAGTCATA	0.637000														130			13		0	0	0.000219431	0	0
MCPH1	79648	broad.mit.edu	37	8	6302006	6302006	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr8:6302006A>T	uc003wqi.3	+	7	839	c.763A>T	c.(763-765)Att>Ttt	p.I255F	MCPH1_uc003wqh.3_Missense_Mutation_p.I255F|MCPH1_uc011kwl.2_Missense_Mutation_p.I207F	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	255						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAGGATCCATTAATGACAT	0.358000														57			21		0	0	0.000229342	0	0
ARID1A	8289	broad.mit.edu	37	1	27094329	27094329	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:27094329G>A	uc001bmv.1	+	10	3410	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K	ARID1A_uc001bmt.1_Missense_Mutation_p.E1013K|ARID1A_uc001bmu.1_Missense_Mutation_p.E1013K|ARID1A_uc001bmw.1_Missense_Mutation_p.E630K	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1013					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAAGTTGTATGAGCTGGGTGG	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									94			28		0	0	0.00106085	0	0
RBM42	79171	broad.mit.edu	37	19	36128157	36128157	+	Silent	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr19:36128157G>A	uc002oan.3	+	8	1309	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	RBM42_uc002oap.3_Silent_p.K381K|RBM42_uc002oaq.3_Silent_p.K382K	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	411	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTAAGGCCAAGGTGATCCGTG	0.577000														66			13		0	0	0.000151284	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														98			3		0	0	6.4e-05	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52724382	52724382	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr19:52724382T>C	uc002pyp.3	+	11	1809	c.1514T>C	c.(1513-1515)aTc>aCc	p.I505T	PPP2R1A_uc010ydk.2_Missense_Mutation_p.I450T|PPP2R1A_uc002pyq.3_Missense_Mutation_p.I326T	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	505	PP2A subunit C binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCTTCTGCATCAATGTGAGC	0.597000			Mis		clear cell ovarian carcinoma									115			33		0	0	0.000814825	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232704	172232704	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr3:172232704T>C	uc003fid.3	-	1	340	c.217A>G	c.(217-219)Atg>Gtg	p.M73V	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.M73V	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	73					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGGCTGTTCATACTCTCTTCG	0.502000														121			39		0	0	0.000953801	0	0
SEC23B	10483	broad.mit.edu	37	20	18496315	18496315	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr20:18496315A>T	uc002wra.2	+	3	762	c.301A>T	c.(301-303)Ata>Tta	p.I101L	SEC23B_uc010zsb.2_Missense_Mutation_p.I101L|SEC23B_uc002wrb.2_Missense_Mutation_p.I101L|SEC23B_uc002wqz.2_Missense_Mutation_p.I101L|SEC23B_uc002wrc.2_Missense_Mutation_p.I101L	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	101					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTATGGAGGCATATCTGAGGT	0.348000														63			11		0	0	0.000151284	0	0
RNF150	57484	broad.mit.edu	37	4	141832440	141832440	+	Missense_Mutation	SNP	G	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:141832440G>C	uc003iio.1	-	5	1710	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K	RNF150_uc010iok.1_Missense_Mutation_p.N310K|RNF150_uc003iip.1_Missense_Mutation_p.N352K	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	352						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTGTGATCTGGTTGGTGGGTG	0.557000														77			12		0	0	0.000151284	0	0
ACOX3	8310	broad.mit.edu	37	4	8372681	8372681	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:8372681G>A	uc010idk.3	-	16	2082	c.1937C>T	c.(1936-1938)cCt>cTt	p.P646L	ACOX3_uc003glc.4_Missense_Mutation_p.P646L|ACOX3_uc003gld.4_Silent_p.S623S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	646					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAAGTCAGGAGGAGCGATCAC	0.562000														36			10		0	0	0.000442599	0	0
ABCA12	26154	broad.mit.edu	37	2	215865500	215865500	+	Missense_Mutation	SNP	T	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr2:215865500T>G	uc002vew.3	-	21	3328	c.3108A>C	c.(3106-3108)caA>caC	p.Q1036H	ABCA12_uc002vev.3_Missense_Mutation_p.Q718H|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1036					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCTTCCAGTTTGCAATTCAA	0.428000														133			31		0	0	0.000409698	0	0
APCDD1	147495	broad.mit.edu	37	18	10487626	10487626	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr18:10487626C>G	uc002kom.4	+	4	1490	c.1136C>G	c.(1135-1137)gCc>gGc	p.A379G		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	379					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GCGGCCACAGCCTCACTGCTC	0.597000														64			13		0	0	0.000151284	0	0
ADAP2	55803	broad.mit.edu	37	17	29261209	29261209	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:29261209G>A	uc010csk.3	+	4	701	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	ADAP2_uc002hfy.3_Missense_Mutation_p.R135Q|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.R135Q	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	135	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAGGTAACCGAGAAGGATTC	0.483000														52			13		0	0	0.000308642	0	0
CACYBP	27101	broad.mit.edu	37	1	174979129	174979129	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:174979129G>T	uc001gkj.1	+	5	1026	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	CACYBP_uc001gki.1_Missense_Mutation_p.D158Y	NM_014412	NP_001007215	Q9HB71	CYBP_HUMAN	Homo sapiens calcyclin binding protein (CACYBP), transcript variant 1, mRNA.	201	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AATTTATGAAGATGGAGACGA	0.383000														46			15		0.000308642	0.00847404	0.000308642	1	0
ITM2B	9445	broad.mit.edu	37	13	48833064	48833064	+	Silent	SNP	A	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr13:48833064A>G	uc001vbz.3	+	4	919	c.696A>G	c.(694-696)caA>caG	p.Q232Q		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	232					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		ACAAACTGCAACGCAGAGAAA	0.338000														58			12		0	0	0.00010058	0	0
KRT85	3891	broad.mit.edu	37	12	52761009	52761009	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:52761009A>G	uc001sag.3	-	0	301	c.181T>C	c.(181-183)Tcc>Ccc	p.S61P		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	61	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCCCGCAGGAGCCCAGGTTG	0.716000														35			10		0	0	0.000442599	0	0
RPL22	6146	broad.mit.edu	37	1	6246873	6246873	+	Nonsense_Mutation	SNP	A	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:6246873A>T	uc001amd.3	-	3	292	c.246T>A	c.(244-246)taT>taA	p.Y82*	RPL22_uc001ame.3_Missense_Mutation_p.F77I	NM_000983	NP_000974	P35268	RL22_HUMAN	Homo sapiens ribosomal protein L22 (RPL22), mRNA.	82					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GATATTTCAAATACCTGCAGA	0.358000			T	RUNX1	"""AML, CML"""									51			15		0	0	0.000422831	0	0
LRRC16A	55604	broad.mit.edu	37	6	25600730	25600730	+	Missense_Mutation	SNP	C	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:25600730C>A	uc011djw.2	+	32	3676	c.3308C>A	c.(3307-3309)cCt>cAt	p.P1103H	LRRC16A_uc010jpy.3_Missense_Mutation_p.P1103H	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1103					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGAAGTCCACCTGTGGACTGT	0.488000														51			22		8.10497e-08	2.36437e-06	0.000175454	1	0
ING3	54556	broad.mit.edu	37	7	120595620	120595620	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr7:120595620A>G	uc003vjn.3	+	3	343	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	ING3_uc011knr.1_Missense_Mutation_p.Y70C|ING3_uc003vjl.3_Missense_Mutation_p.Y70C|ING3_uc003vjm.1_Missense_Mutation_p.Y70C|ING3_uc003vjo.3_5'UTR|ING3_uc003vjp.3_Missense_Mutation_p.Y70C|ING3_uc011kns.2_Missense_Mutation_p.Y55C	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	70					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CAGGACTACTATAAAGCTTTG	0.303000														27			3		0	0	0.00024832	0	0
MACF1	23499	broad.mit.edu	37	1	39798098	39798098	+	Silent	SNP	A	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:39798098A>T	uc021olw.1	+	0	1158	c.1158A>T	c.(1156-1158)ctA>ctT	p.L386L	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1951					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCAGTTCTACCGTGCAGCA	0.443000														62			14		0	0	0.000308642	0	0
ABCC9	10060	broad.mit.edu	37	12	21962862	21962862	+	Silent	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:21962862G>A	uc001rfh.3	-	34	4259	c.4239C>T	c.(4237-4239)tgC>tgT	p.C1413C	ABCC9_uc001rfi.1_Silent_p.C1413C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1413	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTCATCTGTGCATTTGCACT	0.323000														75			20		0	0	0.000229342	0	0
NPEPPS	9520	broad.mit.edu	37	17	45668145	45668145	+	Silent	SNP	A	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:45668145A>G	uc002ilr.4	+	9	1381	c.1158A>G	c.(1156-1158)gtA>gtG	p.V386V	NPEPPS_uc010wkt.2_Silent_p.V382V|NPEPPS_uc010wku.2_Silent_p.V350V|NPEPPS_uc010wkv.2_5'UTR	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	386					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ATCTGTGTGTAGACCACTGCT	0.393000														153			25		0	0	0.000184323	0	0
SYCP3	50511	broad.mit.edu	37	12	102127436	102127436	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:102127436C>G	uc001tir.3	-	5	509	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	SYCP3_uc001tiq.3_Missense_Mutation_p.E124Q|SYCP3_uc001tis.3_Missense_Mutation_p.E124Q	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	124	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TGAGAATATTCTTGGTTAAGC	0.308000														63			9		0	0	0.000442599	0	0
SYNE1	23345	broad.mit.edu	37	6	152673335	152673335	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:152673335T>C	uc021zhb.1	-	67	11630	c.11407A>G	c.(11407-11409)Act>Gct	p.T3803A	SYNE1_uc003qot.4_Missense_Mutation_p.T3788A|SYNE1_uc003qou.4_Missense_Mutation_p.T3803A|SYNE1_uc010kja.2_Missense_Mutation_p.T508A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3803					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCGGACAGTGCTGGTCAGT	0.448000										HNSCC(10;0.0054)				167			36		0	0	0.000228196	0	0
MSI2	124540	broad.mit.edu	37	17	55754379	55754379	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:55754379G>A	uc002iuz.1	+	12	1150	c.977G>A	c.(976-978)gGa>gAa	p.G326E	MSI2_uc010wnm.1_Missense_Mutation_p.G322E	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	326						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TTTACAAATGGATACCATTGA	0.458000			T	HOXA9	CML									131			62		0	0	0.000781405	0	0
KIF1B	23095	broad.mit.edu	37	1	10352150	10352150	+	Silent	SNP	A	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:10352150A>G	uc001aqx.4	+	16	1762	c.1560A>G	c.(1558-1560)ggA>ggG	p.G520G	KIF1B_uc001aqv.4_Silent_p.G474G|KIF1B_uc001aqw.4_Silent_p.G474G|KIF1B_uc001aqy.3_Silent_p.G494G|KIF1B_uc001aqz.3_Silent_p.G520G|KIF1B_uc001ara.3_Silent_p.G480G|KIF1B_uc001arb.3_Silent_p.G506G	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	520					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGGAAGATGGAGGAACCCTAG	0.408000														160			3		0	0	0.00024832	0	0
C12orf57	113246	broad.mit.edu	37	12	7055012	7055012	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:7055012A>G	uc001qrz.3	+	2	390	c.308A>G	c.(307-309)aAg>aGg	p.K103R	PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	NM_138425	NP_612434	Q99622	C10_HUMAN	Homo sapiens chromosome 12 open reading frame 57 (C12orf57), mRNA.	103										kidney(1)|large_intestine(1)	2						GGCAAGCTGAAGGCGCTGTTT	0.627000														28			4		0	0	0.00024832	0	0
SVEP1	79987	broad.mit.edu	37	9	113198779	113198779	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr9:113198779C>T	uc010mtz.3	-	27	4982	c.4645G>A	c.(4645-4647)Ggt>Agt	p.G1549S		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1549	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTAACGCACCACCACCTAAG	0.453000														15			6		0	0	3.59834e-05	0	0
LMBRD1	55788	broad.mit.edu	37	6	70462182	70462182	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:70462182T>C	uc003pfa.3	-	3	650	c.374A>G	c.(373-375)gAa>gGa	p.E125G	LMBRD1_uc003pez.3_Missense_Mutation_p.E52G|LMBRD1_uc010kal.3_Missense_Mutation_p.E52G|LMBRD1_uc003pfb.3_Intron	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	125					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATCATCCTTTTCTTCATAATA	0.294000														47			13		0	0	0.000308642	0	0
EXOC7	23265	broad.mit.edu	37	17	74081426	74081426	+	Missense_Mutation	SNP	T	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:74081426T>A	uc002jqs.3	-	15	1929	c.1834A>T	c.(1834-1836)Att>Ttt	p.I612F	EXOC7_uc002jqp.2_5'Flank|EXOC7_uc010dgv.2_Missense_Mutation_p.I486F|EXOC7_uc010wsv.2_Missense_Mutation_p.I533F|EXOC7_uc010wsw.2_Missense_Mutation_p.I584F|EXOC7_uc002jqq.3_Missense_Mutation_p.I561F|EXOC7_uc010wsx.2_Missense_Mutation_p.I553F|EXOC7_uc002jqr.3_Missense_Mutation_p.I530F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	612					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGCTGCTCAATGTGCTCCCGG	0.632000														23			11		0	0	0.000151284	0	0
NOS1	4842	broad.mit.edu	37	12	117655856	117655856	+	Silent	SNP	G	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:117655856G>T	uc001twn.2	-	28	5097	c.4386C>A	c.(4384-4386)acC>acA	p.T1462T	NOS1_uc021ren.1_Silent_p.T1092T|NOS1_uc021reo.1_Silent_p.T1092T|NOS1_uc001twm.2_Silent_p.T1428T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1428					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.T1428T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTACTCATCGGTGTCTTTTT	0.542000														287			8		0.000157383	0.00438559	0.000157383	1	0
C7orf42	55069	broad.mit.edu	37	7	66410208	66410208	+	Silent	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr7:66410208T>C	uc003tvk.3	+	2	669	c.405T>C	c.(403-405)caT>caC	p.H135H	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	135						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						ACGTCACCCATCTGTACTCAA	0.527000														159			32		0	0	0.000814825	0	0
BRCA1	672	broad.mit.edu	37	17	41244817	41244817	+	Missense_Mutation	SNP	C	T	T	rs80357712		TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:41244817C>T	uc002icq.3	-	9	2963	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.G840R|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.G864R|BRCA1_uc002ict.3_Missense_Mutation_p.G911R|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.G911R|BRCA1_uc002ide.1_Missense_Mutation_p.G742R|BRCA1_uc010cyy.1_Missense_Mutation_p.G911R|BRCA1_uc010whs.1_Missense_Mutation_p.G911R|BRCA1_uc010cyz.2_Missense_Mutation_p.G864R|BRCA1_uc010cza.2_Missense_Mutation_p.G885R|BRCA1_uc010wht.1_Missense_Mutation_p.G615R	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	911					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCATTCTTTCCTTGATTTTCT	0.398000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				103			21		0	0	0.000175454	0	0
IKBKB	3551	broad.mit.edu	37	8	42173753	42173753	+	Missense_Mutation	SNP	T	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr8:42173753T>A	uc003xow.2	+	9	1012	c.826T>A	c.(826-828)Tgg>Agg	p.W276R	IKBKB_uc003xov.3_Missense_Mutation_p.W276R|IKBKB_uc010lxh.2_Missense_Mutation_p.W171R|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Missense_Mutation_p.W53R|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.W274R|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.W217R	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	276	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACTGGAGAAGTGGCTGCAACT	0.562000														32			9		0	0	0.000274275	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616069	13616069	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:13616069G>T	uc003gmz.1	-	3	1042	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	309							DNA binding										CTGCTTTCCTGTTGAACATCC	0.353000														27			7		2.0095e-06	5.68444e-05	8.12818e-05	1	0
C2orf62	375307	broad.mit.edu	37	2	219222364	219222364	+	Nonsense_Mutation	SNP	C	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr2:219222364C>T	uc002vhr.3	+	2	255	c.226C>T	c.(226-228)Cag>Tag	p.Q76*		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	76										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAAATACCAGGAAAAACT	0.552000														67			14		0	0	0.000219431	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772927	140772927	+	Nonsense_Mutation	SNP	C	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr5:140772927C>T	uc003lkd.2	+	0	1445	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Nonsense_Mutation_p.Q183*|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	183	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACGTGCAGACTGGAGA	0.612000														58			7		0	0	0.000157383	0	0
KIN	22944	broad.mit.edu	37	10	7825098	7825098	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr10:7825098C>G	uc001ijt.3	-	1	249	c.155G>C	c.(154-156)aGa>aCa	p.R52T	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Intron	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	52					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAATAGTTGTCTCTGATGAGA	0.328000														46			7		0	0	0.000157383	0	0
EDC4	23644	broad.mit.edu	37	16	67910484	67910484	+	Silent	SNP	G	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr16:67910484G>A	uc002eur.3	+	2	572	c.333G>A	c.(331-333)aaG>aaA	p.K111K	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Silent_p.K43K|EDC4_uc002eus.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	111					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTTCAAGCAAGGCCCGGGGAA	0.537000														54			13		0	0	0.000219431	0	0
KIAA0528	9847	broad.mit.edu	37	12	22666235	22666235	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:22666235T>C	uc010sit.2	-	8	1232	c.1004A>G	c.(1003-1005)gAa>gGa	p.E335G	KIAA0528_uc010sir.2_Missense_Mutation_p.E137G|KIAA0528_uc010sis.2_Missense_Mutation_p.E344G|KIAA0528_uc001rfq.3_Missense_Mutation_p.E344G|KIAA0528_uc010siu.2_Missense_Mutation_p.E344G|KIAA0528_uc001rfr.3_Missense_Mutation_p.E335G|KIAA0528_uc009ziy.1_Missense_Mutation_p.E335G	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	344							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TACCCTCTGTTCCAACGCTGA	0.378000														135			22		0	0	0.00106085	0	0
VAV1	7409	broad.mit.edu	37	19	6833546	6833546	+	Missense_Mutation	SNP	T	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr19:6833546T>G	uc002mfu.1	+	16	1715	c.1618T>G	c.(1618-1620)Ttc>Gtc	p.F540V	VAV1_uc010xjh.1_Missense_Mutation_p.F508V|VAV1_uc010dva.1_Missense_Mutation_p.F540V|VAV1_uc002mfv.1_Missense_Mutation_p.F485V	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	540					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGAGGTACCTTCTATCAGGG	0.542000														132			21		0	0	0.000375601	0	0
ADAR	103	broad.mit.edu	37	1	154574720	154574720	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:154574720A>T	uc001ffh.3	-	1	640	c.398T>A	c.(397-399)cTg>cAg	p.L133Q	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.L133Q|ADAR_uc001ffi.3_Missense_Mutation_p.L133Q|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Non-coding_Transcript|ADAR_uc001ffn.2_Nonstop_Mutation_p.*88R	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	133					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTAGATACTCAGTTCCTGGAA	0.517000														66			22		0	0	0.000229342	0	0
CENPC1	1060	broad.mit.edu	37	4	68385012	68385012	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:68385012C>G	uc003hdd.1	-	5	723	c.540G>C	c.(538-540)aaG>aaC	p.K180N	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.K180N	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	180					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						AAGTCTCTCTCTTTTGGGCAC	0.323000														82			30		0	0	0.000227799	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144856892	144856892	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:144856892T>C	uc021ouh.1	-	39	6895	c.6593A>G	c.(6592-6594)aAg>aGg	p.K2198R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.K2198R|PDE4DIP_uc001elx.4_Missense_Mutation_p.K2092R|PDE4DIP_uc001elv.4_Missense_Mutation_p.K1205R	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2198					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACCAGCAGCTTGCCCTCCGC	0.517000			T	PDGFRB	MPD									76			5		0	0	8.12818e-05	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188161	37188161	+	RNA	SNP	G	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:37188161G>T	uc002hrd.1	+	0		c.2003G>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TCCTCCTCCAGAGCACCTTGA	0.512000														140			62		1.12612e-26	3.33724e-25	0.000781405	1	0
BEST1	7439	broad.mit.edu	37	11	61730354	61730354	+	Silent	SNP	C	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr11:61730354C>T	uc001nsr.2	+	8	2120	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Silent_p.A204A|BEST1_uc001nss.3_Silent_p.A576A|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Silent_p.A516A|BEST1_uc001nst.3_Silent_p.A489A|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.2_Silent_p.A470A	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	576					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTTATTGGGCCTTGGAAAACA	0.507000														60			12		0	0	0.000978159	0	0
TRAF5	7188	broad.mit.edu	37	1	211545951	211545952	+	Frame_Shift_Ins	INS	-	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:211545951_211545952insC	uc010psx.2	+	10	1699_1700	c.1614_1615insC	c.(1612-1617)cattctfs	p.H538fs	TRAF5_uc001hih.3_Frame_Shift_Ins_p.H527fs|TRAF5_uc001hii.3_Frame_Shift_Ins_p.H527fs|TRAF5_uc010psy.2_Frame_Shift_Ins_p.H421fs|TRAF5_uc001hij.3_Frame_Shift_Ins_p.H527fs	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	527	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTGTGGCTCATTCTGTTTTGGA	0.465													---	102	---	---	20	---					
SP100	6672	broad.mit.edu	37	2	231338157	231338157	+	Splice_Site	DEL	T	-	-			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr2:231338157delT	uc002vqt.3	+	16	1687	c.1546_splice	c.e16+2	p.D516_splice	SP100_uc002vqs.3_Splice_Site_p.D516_splice|SP100_uc002vqu.1_Splice_Site_p.D516_splice	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	516					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATGATGGGTAAGGCTACCC	0.468													---	112	---	---	23	---					
CPNE9	151835	broad.mit.edu	37	3	9758767	9758768	+	Frame_Shift_Ins	INS	-	T	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr3:9758767_9758768insT	uc021wst.1	+	14	1081_1082	c.910_911insT	c.(910-912)attfs	p.I304fs	CPNE9_uc003bsd.3_Frame_Shift_Ins_p.I303fs	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	304	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CACAGTAGCCATTGACTTCACG	0.450													---	81	---	---	21	---					
SLC22A13	9390	broad.mit.edu	37	3	38307615	38307616	+	Frame_Shift_Ins	INS	-	C	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr3:38307615_38307616insC	uc003chz.3	+	0	318_319	c.264_265insC	c.(262-267)ccacccfs	p.P88fs	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Frame_Shift_Ins_p.P88fs	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	88						integral to plasma membrane	organic cation transmembrane transporter activity	p.P89L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGTTCCGGCCACCCCCCGCCAA	0.589													---	42	---	---	7	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr3:100148586_100148588delGAT	uc003dtx.4	+	1	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													---	876	---	---	8	---					
DNAH8	1769	broad.mit.edu	37	6	38843585	38843585	+	Frame_Shift_Del	DEL	G	-	-			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:38843585delG	uc021yzh.1	+	52	7948	c.7839delG	c.(7837-7839)gagfs	p.E2613fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.E2396fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCATGTATGAGTTTTATGTTA	0.338													---	43	---	---	8	---					
PEAK1	79834	broad.mit.edu	37	15	77406883	77406886	+	Frame_Shift_Del	DEL	TCCC	-	-			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr15:77406883_77406886delTCCC	uc021sqy.1	-	7	5429_5432	c.4853_4856delGGGA	c.(4852-4857)agggaafs	p.R1618fs		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1618	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCGTGTGTATTCCCTCTCCTTCAG	0.559													---	26	---	---	9	---					
TEKT1	83659	broad.mit.edu	37	17	6718552	6718553	+	Frame_Shift_Ins	INS	-	A	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:6718552_6718553insA	uc002gdt.3	-	4	668_669	c.558_559insT	c.(556-561)gatatcfs	p.D186fs	TEKT1_uc010vth.2_Frame_Shift_Ins_p.D40fs	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	186					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.I187I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAGAAGCAGATATCATCTATGG	0.480													---	228	---	---	37	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	-	-			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			---	119	---	---	7	---					
