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
CROCC	9696	broad.mit.edu	37	1	17281847	17281847	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:17281847C>T	uc001azt.2	+	23	3575	c.3506C>T	c.(3505-3507)gCc>gTc	p.A1169V	CROCC_uc001azu.2_Missense_Mutation_p.A472V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1169					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGGAGGATGCCCGTGACGGG	0.711												
GLIS1	148979	broad.mit.edu	37	1	54060541	54060541	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:54060541C>A	uc001cvr.1	-	2	602	c.35G>T	c.(34-36)tGt>tTt	p.C12F		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	12					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGGGCCCCGACAGTGGGCAGA	0.657												
RSBN1	54665	broad.mit.edu	37	1	114354435	114354435	+	Silent	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:114354435G>C	uc001edq.3	-	0	636	c.600C>G	c.(598-600)ccC>ccG	p.P200P	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	200						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCACCATCGGGGCCGCGGT	0.637												
F5	2153	broad.mit.edu	37	1	169510453	169510453	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:169510453G>A	uc001ggg.1	-	12	4020	c.3875C>T	c.(3874-3876)aCa>aTa	p.T1292I		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1292	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGAGAGGTTTGTCTGGCTGAA	0.522												
OR2T10	127069	broad.mit.edu	37	1	248756796	248756796	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:248756796T>C	uc010pzn.2	-	0	274	c.274A>G	c.(274-276)Atc>Gtc	p.I92V		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCGAGATGGTCTTGTCT	0.507												
ST8SIA6	338596	broad.mit.edu	37	10	17363244	17363244	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr10:17363244G>A	uc001ipd.3	-	7	830	c.830C>T	c.(829-831)aCg>aTg	p.T277M	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	277					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.T277T(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAGGTACCCGTGTTGGCCCT	0.418												
OR10A3	26496	broad.mit.edu	37	11	7960683	7960683	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:7960683G>A	uc010rbi.2	-	0	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGTTCAGAGGATGGCAAATT	0.438												
ELP4	26610	broad.mit.edu	37	11	31531364	31531364	+	Silent	SNP	C	C	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:31531364C>G	uc001mtc.3	+	0	68	c.33C>G	c.(31-33)gcC>gcG	p.A11A	IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mtb.3_Silent_p.A11A|ELP4_uc010rdz.2_Silent_p.A11A|IMMP1L_uc009yjo.3_5'Flank|IMMP1L_uc009yjp.3_5'Flank			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	11					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GTAGTGTTGCCGCGAGTACTG	0.587												
KAT5	10524	broad.mit.edu	37	11	65486084	65486084	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:65486084G>A	uc001ofi.3	+	11	1455	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R	KAT5_uc001ofj.3_Missense_Mutation_p.G345R|KAT5_uc001ofk.3_Missense_Mutation_p.G430R|KAT5_uc010roo.2_Missense_Mutation_p.G378R|KAT5_uc001ofl.3_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.3_Non-coding_Transcript|RNASEH2C_uc001ofn.3_3'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	397					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAAAGTGGAAGGGAAAACAGG	0.502												
KRT75	9119	broad.mit.edu	37	12	52824357	52824357	+	Missense_Mutation	SNP	G	G	A	rs2232397	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:52824357G>A	uc001saj.2	-	4	1025	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	335	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCTCGGCCCGGCTGCGGTTG	0.547												
ACTR6	64431	broad.mit.edu	37	12	100601474	100601474	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:100601474G>A	uc001thb.1	+	3	345	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	ACTR6_uc010svh.2_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc009ztu.2_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|AX746635_uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	Homo sapiens ARP6 actin-related protein 6 homolog (yeast) (ACTR6), mRNA.	97						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTATCACTGAACCATACTT	0.259												
SYCP3	50511	broad.mit.edu	37	12	102128812	102128812	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:102128812G>T	uc001tir.3	-	4	385	c.246C>A	c.(244-246)aaC>aaA	p.N82K	SYCP3_uc001tiq.3_Missense_Mutation_p.N82K|SYCP3_uc001tis.3_Missense_Mutation_p.N82K	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	82					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						GAAGAGCCTTGTTAATGTCAA	0.308												
EIF2B1	1967	broad.mit.edu	37	12	124111633	124111633	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:124111633C>T	uc001ufm.3	-	4	659	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	EIF2B1_uc010tat.2_Missense_Mutation_p.R147Q	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	147					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	p.R147*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TACACTAAATCGCTTCTTGGC	0.502												
TMEM62	80021	broad.mit.edu	37	15	43476674	43476674	+	Missense_Mutation	SNP	C	C	T	rs146146981	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:43476674C>T	uc001zqr.3	+	13	2101	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	TMEM62_uc010bda.3_Missense_Mutation_p.R443W|CCNDBP1_uc021sjs.1_5'Flank|CCNDBP1_uc001zqv.3_5'Flank|CCNDBP1_uc010udl.2_5'Flank|CCNDBP1_uc021sjt.1_5'Flank|CCNDBP1_uc021sju.1_5'Flank|CCNDBP1_uc010bdb.3_5'Flank|CCNDBP1_uc001zqy.3_5'Flank	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	608						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTCCCCTTTGCGGACCTGGTT	0.448												
MYO5A	4644	broad.mit.edu	37	15	52681529	52681529	+	Missense_Mutation	SNP	T	T	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:52681529T>G	uc002aby.2	-	12	1818	c.1574A>C	c.(1573-1575)cAa>cCa	p.Q525P	MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	525	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTACAATTTTTGGGCCCAGGT	0.378												
TMC3	342125	broad.mit.edu	37	15	81625404	81625404	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:81625404A>C	uc021ssk.1	-	21	2659	c.2659T>G	c.(2659-2661)Tac>Gac	p.Y887D	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	887						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGACATAGTATCTGGGGGCG	0.473												
RANBP10	57610	broad.mit.edu	37	16	67840366	67840366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr16:67840366delC	uc002eud.3	-	0	190	c.74delG	c.(73-75)ggcfs	p.G25fs	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.2_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.4_5'Flank|TSNAXIP1_uc010vka.2_5'Flank|TSNAXIP1_uc010vkb.2_5'Flank|TSNAXIP1_uc002eug.4_5'Flank|TSNAXIP1_uc002euh.4_5'Flank|TSNAXIP1_uc002eui.4_5'Flank|TSNAXIP1_uc002euj.3_5'Flank	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	25										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGCAGCCCGCCCCCAGCGCC	0.711												
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr17:7578211C>T	uc002gim.2	-	5	832	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.3_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.2_Missense_Mutation_p.R174Q|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(217)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(11)|p.R213P(10)|p.R213fs*34(10)|p.0?(8)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R213R(4)|p.F212L(3)|p.R213G(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.R81Q(2)|p.F212S(2)|p.R213>L(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.D208fs*1(1)|p.F212Y(1)|p.T211fs*28(1)|p.R213fs*35(1)|p.R209fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
INSR	3643	broad.mit.edu	37	19	7120678	7120678	+	Silent	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7120678T>C	uc002mgd.1	-	19	3721	c.3612A>G	c.(3610-3612)gcA>gcG	p.A1204A	INSR_uc002mge.1_Silent_p.A1192A	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1204	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGACTCCGGTGCCATCCACC	0.522												
PNPLA6	10908	broad.mit.edu	37	19	7622102	7622102	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7622102T>C	uc010xjq.2	+	28	3599	c.3359T>C	c.(3358-3360)cTg>cCg	p.L1120P	PNPLA6_uc002mgq.2_Missense_Mutation_p.L1072P|PNPLA6_uc010xjp.2_Missense_Mutation_p.L1045P|PNPLA6_uc002mgr.2_Missense_Mutation_p.L1072P|PNPLA6_uc002mgs.3_Missense_Mutation_p.L1110P	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1111	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGGGCTACCTGCCCCCGCTG	0.662												
SLC1A6	6511	broad.mit.edu	37	19	15061033	15061033	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:15061033G>A	uc002naa.1	-	8	1676	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	557					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R557Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGCCTCCCCGTCCCCGGGAT	0.647												
FFAR3	2865	broad.mit.edu	37	19	35850547	35850547	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:35850547G>T	uc002nzd.3	+	1	830	c.755G>T	c.(754-756)gGt>gTt	p.G252V	FFAR3_uc021usm.1_Missense_Mutation_p.G252V	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	252						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TATATCTGCGGTGAAAGCCCG	0.607												
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	C	T	rs150237904		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:54140039C>T	uc002qcf.1	+	2	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567												
CCDC164	92749	broad.mit.edu	37	2	26637295	26637295	+	Missense_Mutation	SNP	G	G	A	rs148643291	by1000genomes	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:26637295G>A	uc002rhg.2	+	1	313	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	CCDC164_uc010eym.1_Non-coding_Transcript	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	80										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						GAAGAAAGCCGATTGGTATGA	0.448												
LRP2	4036	broad.mit.edu	37	2	170163790	170163790	+	Splice_Site	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:170163790C>T	uc002ues.3	-	4	640	c.427_splice	c.e4+1	p.Q143_splice	LRP2_uc010zdf.1_Splice_Site_p.Q143_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	143	LDL-receptor class A 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACAGACTCACGGCAGTCATT	0.438												
ICA1L	130026	broad.mit.edu	37	2	203650727	203650727	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:203650727C>G	uc002uzh.1	-	12	1411	c.1247G>C	c.(1246-1248)tGg>tCg	p.W416S	ICA1L_uc002uzi.1_Missense_Mutation_p.W416S|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	416										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAGACCCAGTCTGGGAT	0.358												
BPIFB1	92747	broad.mit.edu	37	20	31878893	31878893	+	Missense_Mutation	SNP	C	C	T	rs149436006	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr20:31878893C>T	uc002wyw.1	+	4	657	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	BPIFB1_uc010gej.1_Missense_Mutation_p.R166C	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	166						extracellular space	lipid binding										TGGGAGCCTGCGCATCCAACT	0.617												
TRIOBP	11078	broad.mit.edu	37	22	38120288	38120288	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr22:38120288C>T	uc003atr.3	+	6	1996	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P	TRIOBP_uc003atu.3_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	575					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCAGAACATCCT	0.582												
DOCK3	1795	broad.mit.edu	37	3	51315131	51315131	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:51315131C>T	uc011bds.2	+	25	2792	c.2769C>T	c.(2767-2769)caC>caT	p.H923H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	923						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAATCGCACGCTCAGGAGG	0.552												
FHIT	2272	broad.mit.edu	37	3	59999845	59999845	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:59999845C>T	uc003dkx.4	-	5	508	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FHIT_uc003dky.3_Missense_Mutation_p.R46H|FHIT_uc010hnn.1_Missense_Mutation_p.R46H	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	46	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GTCATGGAAGCGCTCCACTGG	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3			
ZBED2	79413	broad.mit.edu	37	3	111312907	111312907	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:111312907G>A	uc003dxy.3	-	1	1043	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.H48Y	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	48							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCTTGTTGTGGGGCATTGGA	0.552												
C3orf15	89876	broad.mit.edu	37	3	119462849	119462849	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:119462849G>A	uc003ede.4	+	13	1785	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	C3orf15_uc010hqz.3_Missense_Mutation_p.G508R|C3orf15_uc011bjd.2_Missense_Mutation_p.G444R|C3orf15_uc011bje.2_Missense_Mutation_p.G550R	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	406						mitochondrion	protein binding	p.G570*(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CCATTTGGCCGGACTGGAAGG	0.453												
MECOM	2122	broad.mit.edu	37	3	168833248	168833248	+	Silent	SNP	G	G	A	rs140021434		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:168833248G>A	uc011bpj.1	-	7	2815	c.2412C>T	c.(2410-2412)aaC>aaT	p.N804N	MECOM_uc010hwk.1_Silent_p.N639N|MECOM_uc003ffj.3_Silent_p.N681N|MECOM_uc003ffi.3_Silent_p.N616N|MECOM_uc011bpi.1_Silent_p.N617N|MECOM_uc003ffn.3_Silent_p.N616N|MECOM_uc003ffk.2_Silent_p.N616N|MECOM_uc003ffl.2_Silent_p.N776N|MECOM_uc011bpk.1_Silent_p.N616N|MECOM_uc010hwn.2_Silent_p.N804N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	25							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGATTCGACGTTGCTTCCTT	0.488												
SDHAP2	727956	broad.mit.edu	37	3	195400795	195400795	+	Missense_Mutation	SNP	C	C	T	rs7615357	by1000genomes	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:195400795C>T	uc003fuw.3	+	8	1285	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GGGGCAAACTCGCTGTTGGAC	0.592												
JAKMIP1	152789	broad.mit.edu	37	4	6062187	6062187	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:6062187G>A	uc010idb.1	-	10	2094	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.I536I|JAKMIP1_uc011bwc.2_Silent_p.I371I|JAKMIP1_uc003giv.4_Silent_p.I536I|JAKMIP1_uc010ide.3_Silent_p.I536I	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	536	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAAATCTTCGATTTTGGCCT	0.532												
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:8089918C>T	uc003gko.3	-	3	575	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_uc003gkm.4_Silent_p.A144A|ABLIM2_uc003gkp.3_Silent_p.A144A|ABLIM2_uc003gkq.3_Silent_p.A144A|ABLIM2_uc003gkr.3_Silent_p.A144A|ABLIM2_uc003gkj.4_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	144					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632												
SORBS2	8470	broad.mit.edu	37	4	186545046	186545046	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:186545046G>A	uc003iyg.3	-	12	1899	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.R609C|SORBS2_uc003iyl.3_Missense_Mutation_p.R509C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.R413C|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	509						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.D623Y(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGAGATGCGTGTGGGCACC	0.572												
PIK3R1	5295	broad.mit.edu	37	5	67589601	67589602	+	In_Frame_Ins	INS	-	-	GTT			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:67589601_67589602insGTT	uc003jva.3	+	10	1944_1945	c.1364_1365insGTT	c.(1363-1365)cag>caGTTg	p.455_456insL	PIK3R1_uc003jvc.3_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.3_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.3_In_Frame_Ins_p.134_135insL|PIK3R1_uc021xzn.1_In_Frame_Ins_p.92_93insL|PIK3R1_uc011crb.2_In_Frame_Ins_p.125_126insL	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	455					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(3)|p.F456_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.T454_Q455>Q(1)|p.T454I(1)|p.0?(1)|p.?(1)|p.Q455K(1)|p.453_454insN(1)|p.F456_R461>S(1)|p.Y452_Q455>SGGSRIK(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATAACACTCAGTTTCAAGAAA	0.287			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
TMEM174	134288	broad.mit.edu	37	5	72469563	72469563	+	Missense_Mutation	SNP	G	G	A	rs138671212		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:72469563G>A	uc010izc.3	+	0	541	c.493G>A	c.(493-495)Ggc>Agc	p.G165S		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	165						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAGCCCCTGCGGCCTCATAAC	0.547												
HTR4	3360	broad.mit.edu	37	5	147830788	147830788	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:147830788G>A	uc021yfh.1	-	5	1171	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	HTR4_uc021yfg.1_3'UTR|HTR4_uc010jgu.1_Non-coding_Transcript	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant a, mRNA.	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	ATTGTGTATGGGCAGTTTCTC	0.468												
PDGFRB	5159	broad.mit.edu	37	5	149501489	149501489	+	Silent	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:149501489G>T	uc003lro.3	-	15	2767	c.2298C>A	c.(2296-2298)atC>atA	p.I766I	PDGFRB_uc010jhd.3_Silent_p.I605I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	766	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAGGACTCGATGTCTGCAT	0.532			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""							
KIF13A	63971	broad.mit.edu	37	6	17805708	17805708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr6:17805708C>A	uc003ncg.4	-	18	2462	c.2302G>T	c.(2302-2304)Gag>Tag	p.E768*	KIF13A_uc003ncf.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.4_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.4_Nonsense_Mutation_p.E768*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	768					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTACCTCAGGAACTTTT	0.383												
MPP6	51678	broad.mit.edu	37	7	24727093	24727093	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:24727093C>T	uc003swx.3	+	12	1782	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	MPP6_uc003swy.3_Missense_Mutation_p.R495W	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	495	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGAAAGTGCACGGATTCAGAG	0.348												
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:36571798G>A	uc022abu.1	-	17	1781	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(4)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512												
FAM183B	340286	broad.mit.edu	37	7	38725645	38725645	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:38725645G>A	uc011kbd.2	-	1	948	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C						Homo sapiens family with sequence similarity 183, member B (FAM183B), non-coding RNA.											endometrium(1)|lung(7)	8						CTCTCTCGGCGTCCTCTTACC	0.622												
VSTM2A	222008	broad.mit.edu	37	7	54617588	54617588	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:54617588A>G	uc022adk.1	+	3	764	c.359A>G	c.(358-360)aAg>aGg	p.K120R	VSTM2A_uc010kzf.3_Missense_Mutation_p.K120R	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	120	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTGAGGAAAAAGGATGAAGGC	0.443												
CCT6A	908	broad.mit.edu	37	7	56127280	56127280	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56127280G>A	uc003trl.1	+	8	1176	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	338					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCTTTTGACGACCTAAGTCC	0.398												
SUMF2	25870	broad.mit.edu	37	7	56141892	56141892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56141892delA	uc011kcw.2	+	3	453	c.422delA	c.(421-423)gaafs	p.E141fs	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Frame_Shift_Del_p.E34fs|SUMF2_uc003trv.3_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcy.2_Intron|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Frame_Shift_Del_p.E141fs	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	122						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCCAGTGGAAAAGGCATTT	0.562											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OCM2	4951	broad.mit.edu	37	7	97617753	97617753	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:97617753C>T	uc003upc.3	-	1	169	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	Homo sapiens oncomodulin 2 (OCM2), mRNA.	57	EF-hand 1.						calcium ion binding			lung(4)	4						TCCAGATACCCGCTCTGGTCG	0.537												
GPC2	221914	broad.mit.edu	37	7	99773980	99773980	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99773980G>A	uc003utv.3	-	1	343	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	59						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGACCCGGAGGTGCTCACCT	0.567												
PILRB	29990	broad.mit.edu	37	7	99955938	99955938	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99955938C>T	uc022aim.1	+	5	1085	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.L5L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	5					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGTCGGCCCCTGCTGCTGCC	0.667												
WDR86	349136	broad.mit.edu	37	7	151097266	151097266	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:151097266G>A	uc011kvk.1	-	1	674	c.225C>T	c.(223-225)gcC>gcT	p.A75A	WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc003wkb.2_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	75										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGCAGTCGGCGCTGCATG	0.607												
PIWIL2	55124	broad.mit.edu	37	8	22211836	22211836	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:22211836A>G	uc003xbn.2	+	21	2858	c.2710A>G	c.(2710-2712)Acg>Gcg	p.T904A	PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	904	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGCATTCCTACGCATTATGT	0.453												
TUBBP1	92755	broad.mit.edu	37	8	30209921	30209921	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:30209921T>C								MIR548O2 (101708 upstream) : AK057935 (29721 downstream)																							CTGCAGGGCTTCCAGCTCACC	0.572												
COL14A1	7373	broad.mit.edu	37	8	121160106	121160106	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:121160106C>T	uc003yox.3	+	1	290	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	9					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGCAAGATGCGGTACTGGTT	0.423												
PTPRD	5789	broad.mit.edu	37	9	8341178	8341178	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341178G>C	uc003zkk.3	-	40	5781	c.5038C>G	c.(5038-5040)Cca>Gca	p.P1680A	PTPRD_uc003zkp.3_Missense_Mutation_p.P1274A|PTPRD_uc003zkq.3_Missense_Mutation_p.P1273A|PTPRD_uc003zkr.3_Missense_Mutation_p.P1264A|PTPRD_uc003zks.3_Missense_Mutation_p.P1273A|PTPRD_uc022bdj.1_Missense_Mutation_p.P1270A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1680	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATTCATATGGCATAATATTA	0.393										TSP Lung(15;0.13)		
PTPRD	5789	broad.mit.edu	37	9	8341203	8341203	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341203G>C	uc003zkk.3	-	40	5756	c.5013C>G	c.(5011-5013)ttC>ttG	p.F1671L	PTPRD_uc003zkp.3_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.3_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.3_Missense_Mutation_p.F1255L|PTPRD_uc003zks.3_Missense_Mutation_p.F1264L|PTPRD_uc022bdj.1_Missense_Mutation_p.F1261L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1671	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCGATTTTTGAATTTATTAC	0.388										TSP Lung(15;0.13)		
TRAF1	7185	broad.mit.edu	37	9	123673632	123673632	+	Missense_Mutation	SNP	C	C	T	rs149705933		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:123673632C>T	uc004bku.2	-	5	1437	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TRAF1_uc011lyg.2_Missense_Mutation_p.V167I|TRAF1_uc010mvl.2_Missense_Mutation_p.V289I	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	289	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.V289I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AAGAGGCTGACGGTCCTGCCA	0.612												
SLC2A8	29988	broad.mit.edu	37	9	130165020	130165020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:130165020delC	uc004bqu.3	+	4	756	c.711delC	c.(709-711)atcfs	p.I237fs	SLC2A8_uc010mxj.3_Frame_Shift_Del_p.I237fs	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	237						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACCCCCCCATCGGGGCTGAGC	0.677												
SATL1	340562	broad.mit.edu	37	X	84363108	84363108	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chrX:84363108C>T	uc004een.3	-	0	867	c.867G>A	c.(865-867)gtG>gtA	p.V289V		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	102	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTCATGTCCACTTGGTTCA	0.463												
