Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TXNDC2	84203	broad.mit.edu	37	18	9887808	9887808	+	Silent	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr18:9887808C>T	ENST00000306084.6	+	2	1531	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.F377F|TXNDC2_ENST00000577697.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	444	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAATGGAGTTCCCGGAGGGGG	0.572000													15	38					0	0	0.119110	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698606	17698606	+	Silent	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:17698606A>G	ENST00000399080.2	-	1	1100	c.1077T>C	c.(1075-1077)aaT>aaC	p.N359N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	359										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTCTCTTACATTACACTGGA	0.378000													5	122					0	0	0.014758	0	0
FMN2	56776	broad.mit.edu	37	1	240371134	240371134	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:240371134A>G	ENST00000319653.9	+	5	3252	c.3022A>G	c.(3022-3024)Ata>Gta	p.I1008V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1008	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAGCGGGCATACCCCCTCC	0.716000													2	4					0	0	0.115264	0	0
IKBIP	121457	broad.mit.edu	37	12	99019997	99019997	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr12:99019997G>A	ENST00000299157.4	-	3	1218	c.845C>T	c.(844-846)tCt>tTt	p.S282F	IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	286					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTGAGAACAGAGTGAATAGC	0.378000													26	114					0	0	0.091800	0	0
PTPRU	10076	broad.mit.edu	37	1	29647213	29647213	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:29647213C>T	ENST00000356870.3	+	27	3832	c.3722C>T	c.(3721-3723)gCg>gTg	p.A1241V	PTPRU_ENST00000428026.2_Missense_Mutation_p.A1232V|PTPRU_ENST00000373779.3_Missense_Mutation_p.A1235V|PTPRU_ENST00000345512.3_Missense_Mutation_p.A1245V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1241V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A1241V	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1245	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACACGGAGTGCGGCCTTCATC	0.657000													3	64					0	0	0.115264	0	0
HNRNPK	3190	broad.mit.edu	37	9	86587818	86587818	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:86587818C>T	ENST00000376263.3	-	10	809	c.586G>A	c.(586-588)Gga>Aga	p.G196R	HNRNPK_ENST00000360384.5_Missense_Mutation_p.G196R|HNRNPK_ENST00000376281.4_Missense_Mutation_p.G196R|HNRNPK_ENST00000376264.2_Missense_Mutation_p.G196R|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.G196R	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	196	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGTTTTCCTCCAATAAGAACA	0.343000													30	52					0	0	0.045705	0	0
MED25	81857	broad.mit.edu	37	19	50335647	50335647	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:50335647T>C	ENST00000312865.6	+	13	1510	c.1457T>C	c.(1456-1458)cTc>cCc	p.L486P	MED25_ENST00000538643.1_Missense_Mutation_p.L273P	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	486	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CTCAAAGGCCTCTACCGCATC	0.577000													3	13					0	0	0.115264	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602337	13602337	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:13602337C>T	ENST00000040738.5	-	10	6322	c.6187G>A	c.(6187-6189)Ggg>Agg	p.G2063R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2063							DNA binding										TTTTTACCCCCTGCTAAGCTA	0.433000													15	37					0	0	0.146539	0	0
NME8	51314	broad.mit.edu	37	7	37927910	37927910	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:37927910C>T	ENST00000199447.4	+	15	1651	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P427S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	427	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGACAGTTTGCCGGTCAACCA	0.368000													4	123					0	0	0.014758	0	0
KIAA0100	9703	broad.mit.edu	37	17	26966605	26966605	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:26966605C>G	ENST00000528896.2	-	10	1145	c.1071G>C	c.(1069-1071)aaG>aaC	p.K357N	KIAA0100_ENST00000544884.1_Missense_Mutation_p.K214N|KIAA0100_ENST00000389003.3_Missense_Mutation_p.K214N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	357						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCACACTAGCCTTGAGGGAGT	0.473000													25	42					0	0	0.076483	0	0
VSIG8	391123	broad.mit.edu	37	1	159827673	159827673	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:159827673C>G	ENST00000368100.1	-	4	649	c.514G>C	c.(514-516)Ggc>Cgc	p.G172R		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	172	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GGCTGGGAGCCCCCACTGGCA	0.587000													9	55					0	0	0.047766	0	0
ACTN4	81	broad.mit.edu	37	19	39214837	39214837	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:39214837C>T	ENST00000252699.2	+	15	1809	c.1733C>T	c.(1732-1734)cCg>cTg	p.P578L	ACTN4_ENST00000424234.2_Missense_Mutation_p.P188L|ACTN4_ENST00000390009.3_Missense_Mutation_p.P359L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	578					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCACCCTGCCGGACGCCGAT	0.647000													22	52					0	0	0.083992	0	0
SNW1	22938	broad.mit.edu	37	14	78221407	78221407	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:78221407G>T	ENST00000261531.7	-	2	133	c.71C>A	c.(70-72)gCa>gAa	p.A24E	SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A24E	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	24					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGGGATCTTGCCTTTTCTTC	0.458000													12	7					0.00010058	0.000110638	0.093190	1	0
ZIC5	85416	broad.mit.edu	37	13	100617841	100617841	+	Silent	SNP	T	T	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr13:100617841T>C	ENST00000267294.4	-	2	2015	c.1782A>G	c.(1780-1782)ccA>ccG	p.P594P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	594					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCGCCCACTGGAGTCCCCA	0.597000													63	92					0	0	0.139131	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	16					0	0	0.115264	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279573	32279573	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:32279573G>A	ENST00000360482.2	-	2	1491	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	SPOCD1_ENST00000533231.1_Silent_p.S454S|SPOCD1_ENST00000373648.2_Silent_p.S454S|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	454					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCCTCCTGGGCTGGGTTCCT	0.552000													45	100					0	0	0.139131	0	0
ITIH2	3698	broad.mit.edu	37	10	7762870	7762870	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr10:7762870G>A	ENST00000358415.4	+	7	848	c.682G>A	c.(682-684)Gac>Aac	p.D228N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D217N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	228					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCATGTTCCCGACACATTTGA	0.458000													4	108					0	0	0.009096	0	0
CLK3	1198	broad.mit.edu	37	15	74922183	74922183	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr15:74922183G>A	ENST00000395066.3	+	13	2337	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	CLK3_ENST00000352989.5_Missense_Mutation_p.E455K|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.E478K	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	626						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCTGACCCCTGAGGAGCGGTC	0.632000													9	7					0	0	0.069234	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415282	105415282	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:105415282C>T	ENST00000333244.5	-	7	6625	c.6506G>A	c.(6505-6507)gGc>gAc	p.G2169D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2169						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATGGACTTGCCTGGGGCAGA	0.592000													5	195					0	0	0.014758	0	0
NCOR1	9611	broad.mit.edu	37	17	16075196	16075196	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:16075196A>T	ENST00000268712.3	-	4	613	c.356T>A	c.(355-357)tTt>tAt	p.F119Y	NCOR1_ENST00000395851.1_Missense_Mutation_p.F119Y|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	119	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACACGCTGAAAATGAGAATC	0.488000													12	19					0	0	0.080935	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956534	16956534	+	RNA	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:16956534C>T	ENST00000412962.1	-	0	294																											GACGGCGCCACGCAGGTGTTC	0.602000													4	26					0	0	0.009096	0	0
DMXL1	1657	broad.mit.edu	37	5	118569034	118569034	+	Splice_Site	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr5:118569034G>T	ENST00000311085.8	+	38	8355		c.e38-1		DMXL1_ENST00000539542.1_Splice_Site|DMXL1_ENST00000505312.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTGTAATGCAGATCTGACAGG	0.353000													33	73					2.09667e-21	2.44611e-21	0.064281	1	0
LMTK2	22853	broad.mit.edu	37	7	97823182	97823182	+	Silent	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:97823182C>G	ENST00000297293.5	+	11	3698	c.3405C>G	c.(3403-3405)ccC>ccG	p.P1135P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1135					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGGAGCAGCCCCTACCCGAGC	0.582000													12	53					0	0	0.132662	0	0
RBM28	55131	broad.mit.edu	37	7	127978320	127978320	+	Missense_Mutation	SNP	G	G	T	rs148752295	by1000genomes	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:127978320G>T	ENST00000223073.1	-	5	639	c.525C>A	c.(523-525)aaC>aaA	p.N175K	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	175	RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTCTTTCATGTTCATGCCTT	0.393000													25	81					7.76418e-22	9.19757e-22	0.108266	1	0
STAT5B	6777	broad.mit.edu	37	17	40362270	40362270	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:40362270T>C	ENST00000293328.3	-	15	1993	c.1825A>G	c.(1825-1827)Aac>Gac	p.N609D		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	609	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTGGCTTGTTAATGAGTAGG	0.498000													3	80					0	0	0.009096	0	0
EXOSC8	11340	broad.mit.edu	37	13	37580102	37580102	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr13:37580102C>G	ENST00000389704.3	+	6	549	c.284C>G	c.(283-285)tCt>tGt	p.S95C	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	95					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGATTCCGGTCTGGACCTCCT	0.383000													3	77					0	0	0.009096	0	0
CHERP	10523	broad.mit.edu	37	19	16636145	16636145	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:16636145C>T	ENST00000546361.2	-	10	1800	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	CHERP_ENST00000198939.6_Missense_Mutation_p.R561H|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	550	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTGCATGAAGCGGGGCGGGAA	0.701000													3	5					0	0	0.014758	0	0
VHL	7428	broad.mit.edu	37	3	10183860	10183860	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:10183860A>C	ENST00000256474.2	+	1	1169	c.329A>C	c.(328-330)cAc>cCc	p.H110P	VHL_ENST00000345392.2_Missense_Mutation_p.H110P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	110	Involved in binding to CCT complex.		H -> Y (in dbSNP:rs17855706).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.?(2)|p.H110fs*49(1)|p.H110P(1)|p.I109_R113del(1)|p.G106fs*49(1)|p.H110>RIN(1)|p.H110_S111del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCCGCATCCACAGCTACCGA	0.692000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				4	4					0	0	0.029380	0	0
RBFA	79863	broad.mit.edu	37	18	77806138	77806138	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr18:77806138G>A	ENST00000306735.5	+	7	1153	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R	RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	339					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CCACAGCTGCGGAGCAAGCAG	0.582000													3	34					0	0	0.115264	0	0
SMIM14	201895	broad.mit.edu	37	4	39606801	39606801	+	Splice_Site	SNP	C	C	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:39606801C>A	ENST00000295958.4	-	2	352		c.e2-1		SMIM14_ENST00000511809.1_Splice_Site|SMIM14_ENST00000510628.1_Intron	NM_174921.1	NP_777581.1			small integral membrane protein 14																		CTGTTTAAATCTAGGAGGAAG	0.338000													17	47					0.00498961	0.00526301	0.033300	1	0
TBCE	6905	broad.mit.edu	37	1	235599139	235599139	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:235599139A>C	ENST00000543662.1	+	10	1076	c.970A>C	c.(970-972)Ata>Cta	p.I324L	TBCE_ENST00000366601.3_Missense_Mutation_p.I273L|TBCE_ENST00000406207.1_Missense_Mutation_p.I273L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	273					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GCTGTATCTGATAGCCCACCT	0.363000													3	154					0	0	0.115264	0	0
LINC00886	730091	broad.mit.edu	37	3	156528195	156528195	+	RNA	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:156528195T>A	ENST00000472943.1	-	0	148					NR_038387.1																						GACCCCAAGTTCAATTTTTAC	0.433000													48	86					0	0	0.139131	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136409649	136409649	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:136409649G>C	ENST00000393061.3	+	8	1499	c.1067G>C	c.(1066-1068)aGg>aCg	p.R356T	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R247T|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R247T			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	247					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		ATTGTAGAGAGGAAGAAGTCC	0.567000													32	82					0	0	0.050027	0	0
PTCH2	8643	broad.mit.edu	37	1	45297924	45297924	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:45297924C>T	ENST00000447098.2	-	3	366	c.355G>A	c.(355-357)Gca>Aca	p.A119T	PTCH2_ENST00000372192.3_Missense_Mutation_p.A119T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	119					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCGTGCGGTCTGTATC	0.587000									Basal Cell Nevus syndrome				6	358					0	0	0.029380	0	0
ZNF485	220992	broad.mit.edu	37	10	44112775	44112775	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr10:44112775T>G	ENST00000361807.3	+	5	1478	c.1284T>G	c.(1282-1284)caT>caG	p.H428Q	ZNF485_ENST00000374437.2_Missense_Mutation_p.H337Q|ZNF485_ENST00000374435.3_Missense_Mutation_p.H428Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAGCAACATAAGAAAATTC	0.378000													13	37					0	0	0.093190	0	0
CNTN5	53942	broad.mit.edu	37	11	99932125	99932125	+	Splice_Site	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:99932125A>T	ENST00000524871.1	+	10	1452	c.1162_splice	c.e10+1	p.T388_splice	CNTN5_ENST00000279463.3_Splice_Site_p.T388_splice|CNTN5_ENST00000418526.2_Splice_Site_p.T314_splice|CNTN5_ENST00000527185.1_Splice_Site_p.T388_splice|CNTN5_ENST00000528682.1_Splice_Site_p.T388_splice	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	388					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAAGTATACAGTAAGTGTTT	0.358000													14	23					0	0	0.105934	0	0
OR10T2	128360	broad.mit.edu	37	1	158369112	158369112	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:158369112C>A	ENST00000334438.1	-	1	144	c.145G>T	c.(145-147)Gtt>Ttt	p.V49F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCGAATAACGGCCATGATG	0.488000													16	46					9.16793e-09	1.03813e-08	0.033300	1	0
NUMA1	4926	broad.mit.edu	37	11	71724426	71724426	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:71724426C>T	ENST00000393695.3	-	15	4454	c.4123G>A	c.(4123-4125)Gcc>Acc	p.A1375T	NUMA1_ENST00000358965.6_Missense_Mutation_p.A1375T|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1375					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCGGCAGCGGCCTGCTCGGCC	0.697000			T	RARA	APL								8	11					0	0	0.047766	0	0
RUSC1	23623	broad.mit.edu	37	1	155291790	155291790	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:155291790G>A	ENST00000368352.5	+	2	377	c.226G>A	c.(226-228)Gag>Aag	p.E76K	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.E76K|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	76						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGCTGCCAGGAGCACGGTCC	0.672000													29	13					0	0	0.144211	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600521	3600521	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:3600521C>T	ENST00000375190.4	-	2	505	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	TBXA2R_ENST00000411851.3_Missense_Mutation_p.G38S|TBXA2R_ENST00000589966.1_Missense_Mutation_p.G38S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	38					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GAGGCCAGGCCCACCACGCAG	0.697000													12	22					0	0	0.105934	0	0
TGFBR3	7049	broad.mit.edu	37	1	92193363	92193363	+	Splice_Site	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:92193363A>G	ENST00000212355.4	-	7	1203	c.737_splice	c.e7-1	p.S246_splice	TGFBR3_ENST00000525962.1_Splice_Site_p.S246_splice|TGFBR3_ENST00000370399.2_Splice_Site_p.S246_splice|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	246					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTGGAAAGCACTGTGAATGG	0.408000													8	48					0	0	0.047766	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	69					0	0	0.115264	0	0
EIF6	3692	broad.mit.edu	37	20	33867388	33867388	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr20:33867388G>A	ENST00000374450.3	-	6	973	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	EIF6_ENST00000374436.3_Missense_Mutation_p.R237W|EIF6_ENST00000374443.3_Missense_Mutation_p.R218W|RP4-614O4.11_ENST00000444717.1_RNA	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	237					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGGAATCCCGCATGCTGGTG	0.527000													14	283					0	0	0.146539	0	0
SCYL3	57147	broad.mit.edu	37	1	169857876	169857876	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:169857876A>G	ENST00000367772.4	-	2	303	c.106T>C	c.(106-108)Ttt>Ctt	p.F36L	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.F36L|SCYL3_ENST00000367771.5_Missense_Mutation_p.F36L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	36	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGAAGCAAATTTGCCATCT	0.383000													28	105					0	0	0.108266	0	0
MRPS7	51081	broad.mit.edu	37	17	73258479	73258479	+	Silent	SNP	C	C	T	rs6501772	by1000genomes	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:73258479C>T	ENST00000579002.1	+	1	487	c.72C>T	c.(70-72)tcC>tcT	p.S24S	MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	0					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CGCGCCGCTCCCCCTCGTCGG	0.597000													3	73					0	0	0.115264	0	0
SBF1	6305	broad.mit.edu	37	22	50904460	50904460	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr22:50904460A>G	ENST00000380817.2	-	9	1124	c.941T>C	c.(940-942)aTt>aCt	p.I314T	SBF1_ENST00000390679.3_Missense_Mutation_p.I314T|SBF1_ENST00000348911.6_Missense_Mutation_p.I315T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	314					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACACTCAGGAATGGTGACCGT	0.622000													34	97					0	0	0.064281	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79089102	79089102	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr15:79089102C>G	ENST00000388820.4	-	4	859	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	217					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						tcccaacgctcccgtcgAGAC	0.657000													8	14					0	0	0.105934	0	0
ADCY4	196883	broad.mit.edu	37	14	24793333	24793333	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:24793333C>T	ENST00000310677.4	-	17	2094	c.1981G>A	c.(1981-1983)Gga>Aga	p.G661R	ADCY4_ENST00000554068.2_Missense_Mutation_p.G661R|ADCY4_ENST00000396747.3_Missense_Mutation_p.G354R|ADCY4_ENST00000418030.2_Missense_Mutation_p.G661R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	661					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATTCTCAGTCCTGGTCGTGTG	0.612000													21	14					0	0	0.062417	0	0
CCDC81	60494	broad.mit.edu	37	11	86125851	86125851	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:86125851A>T	ENST00000278487.3	+	11	1696	c.617A>T	c.(616-618)aAa>aTa	p.K206I	CCDC81_ENST00000354755.1_Missense_Mutation_p.K381I|CCDC81_ENST00000528728.1_Missense_Mutation_p.K206I|CCDC81_ENST00000445632.2_Missense_Mutation_p.K471I			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	471										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAAAGAGCGAAATTTTTAAAA	0.353000													22	31					0	0	0.069288	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	79					0	0	0.115264	0	0
CLC	1178	broad.mit.edu	37	19	40225079	40225079	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:40225079G>A	ENST00000221804.4	-	3	222	c.147C>T	c.(145-147)gaC>gaT	p.D49D		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	49	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GGAAGACAATGTCTGATTCCT	0.512000													64	98					0	0	0.139131	0	0
AKAP9	10142	broad.mit.edu	37	7	91631292	91631292	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:91631292T>A	ENST00000359028.2	+	9	2322	c.2097T>A	c.(2095-2097)aaT>aaA	p.N699K	AKAP9_ENST00000358100.2_Missense_Mutation_p.N699K|AKAP9_ENST00000356239.3_Missense_Mutation_p.N687K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	699	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGGACAATTTGATAACTA	0.294000			T	BRAF	papillary thyroid								30	72					0	0	0.050027	0	0
MURC	347273	broad.mit.edu	37	9	103348134	103348134	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:103348134G>C	ENST00000307584.5	+	2	561	c.496G>C	c.(496-498)Gat>Cat	p.D166H		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	166					cell differentiation|muscle organ development|transcription, DNA-dependent			p.D166N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGATATCTTTGATCCCCCAGT	0.423000													21	45					0	0	0.049695	0	0
C5orf34	375444	broad.mit.edu	37	5	43506009	43506009	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr5:43506009G>A	ENST00000306862.2	-	4	1148	c.773C>T	c.(772-774)gCa>gTa	p.A258V	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	258										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AAAATGAAGTGCTAAAGACAA	0.383000													6	107					0	0	0.021553	0	0
UGT2B28	54490	broad.mit.edu	37	4	70148312	70148312	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:70148312C>T	ENST00000335568.5	+	2	804	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	UGT2B28_ENST00000511240.1_Missense_Mutation_p.H268Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	268					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCAATTTCCTCATCCATTCTT	0.403000													95	162					0	0	0.139131	0	0
RPAP2	79871	broad.mit.edu	37	1	92789348	92789348	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:92789348C>T	ENST00000370343.3	+	8	980	c.871C>T	c.(871-873)Cct>Tct	p.P291S	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	291						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ATGTGAACTTCCTTTACAGAA	0.368000													52	98					0	0	0.139131	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													5	144					0	0	0.021553	0	0
TNC	3371	broad.mit.edu	37	9	117803269	117803269	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:117803269G>A	ENST00000350763.4	-	19	5754	c.5343C>T	c.(5341-5343)gcC>gcT	p.A1781A	TNC_ENST00000345230.3_Silent_p.A1144A|TNC_ENST00000346706.3_Silent_p.A1235A|TNC_ENST00000341037.4_Silent_p.A1599A|TNC_ENST00000542877.1_Silent_p.A1418A|TNC_ENST00000340094.3_Silent_p.A1417A|TNC_ENST00000537320.1_Silent_p.A1144A|TNC_ENST00000535648.1_Silent_p.A1326A|TNC_ENST00000423613.2_Silent_p.A1508A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1781	Fibronectin type-III 13.		A -> T (in dbSNP:rs2274750).		cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCCTTCATGGCGATGATGC	0.507000													43	51					0	0	0.104719	0	0
ARHGDIG	398	broad.mit.edu	37	16	332800	332800	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr16:332800G>T	ENST00000219409.3	+	6	739	c.664G>T	c.(664-666)Gac>Tac	p.D222Y		NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	222					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CATCTGCCAGGACTGGAAGGA	0.647000											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	11					0.00024832	0.000265564	0.009096	1	0
DNAJC10	54431	broad.mit.edu	37	2	183593374	183593374	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:183593374T>A	ENST00000264065.6	+	6	905	c.490T>A	c.(490-492)Tta>Ata	p.L164I	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.L164I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	164	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTGCCATGATTTAGCTCCCAC	0.303000													71	72					0	0	0.139131	0	0
BAI2	576	broad.mit.edu	37	1	32207698	32207698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:32207698delC	ENST00000373658.3	-	8	1714	c.1373delG	c.(1372-1374)gtfs	p.G458fs	BAI2_ENST00000398538.1_Frame_Shift_Del_p.G446fs|BAI2_ENST00000527361.1_Frame_Shift_Del_p.G458fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G406fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.G458fs|BAI2_ENST00000440175.2_Frame_Shift_Del_p.G100fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	458	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGAGGGCACCCGTGCATGT	0.677													19	44	---	---	---	---					
CCDC181	57821	broad.mit.edu	37	1	169364364	169364364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:169364364delG	ENST00000545005.1	-	7	1955	c.1448delC	c.(1447-1449)gtfs	p.A483fs	CCDC181_ENST00000367806.3_Frame_Shift_Del_p.A484fs|CCDC181_ENST00000367805.3_Frame_Shift_Del_p.A483fs|BLZF1_ENST00000329281.2_Intron					coiled-coil domain containing 181																		AGAACGCTTAGCTTCTAGTCG	0.383													38	115	---	---	---	---					
HS6ST1	9394	broad.mit.edu	37	2	129026219	129026220	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:129026219_129026220insA	ENST00000259241.6	-	2	765_766	c.752_753insT	c.(751-753)gcgfs	p.A251fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	251					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCAGCATGCGCACCTGGCGGTT	0.658													31	20	---	---	---	---					
STAG1	10274	broad.mit.edu	37	3	136062680	136062683	+	Frame_Shift_Del	DEL	AAAA	AAAA	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:136062680_136062683delAAAA	ENST00000383202.2	-	30	3693_3696	c.3437_3440delTTTT	c.(3436-3441)tafs	p.FL1146fs	STAG1_ENST00000536929.1_Frame_Shift_Del_p.FL730fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.FL1146fs|STAG1_ENST00000434713.2_Frame_Shift_Del_p.FL886fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1146					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTACTTGTGTAAAAAGTCTGGTTC	0.382													18	49	---	---	---	---					
ELN	2006	broad.mit.edu	37	7	73466124	73466132	+	In_Frame_Del	DEL	GTTCCTGGC	GTTCCTGGC	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:73466124_73466132delGTTCCTGGC	ENST00000252034.7	+	16	1243_1251	c.844_852delGTTCCTGGC	c.(844-852)del	p.VPG285del	ELN_ENST00000380575.4_In_Frame_Del_p.VPG275del|ELN_ENST00000429192.1_In_Frame_Del_p.VPG290del|ELN_ENST00000380576.5_In_Frame_Del_p.VPG285del|ELN_ENST00000414324.1_In_Frame_Del_p.VPG280del|ELN_ENST00000380584.4_In_Frame_Del_p.VPG271del|ELN_ENST00000357036.5_In_Frame_Del_p.VPG290del|ELN_ENST00000320399.6_In_Frame_Del_p.VPG285del|ELN_ENST00000358929.4_In_Frame_Del_p.VPG285del|ELN_ENST00000320492.7_In_Frame_Del_p.VPG249del|ELN_ENST00000380553.4_In_Frame_Del_p.VPG168del|ELN_ENST00000380562.4_In_Frame_Del_p.VPG285del|ELN_ENST00000458204.1_In_Frame_Del_p.VPG275del|ELN_ENST00000445912.1_In_Frame_Del_p.VPG285del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	285	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AGGGGCTGGTGTTCCTGGCGTGCCTGGGG	0.612			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	52	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49722758	49722758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr12:49722758delC	ENST00000551245.1	+	9	1051	c.940delC	c.(940-942)ccfs	p.P314fs	TROAP_ENST00000547923.1_Frame_Shift_Del_p.P22fs|TROAP_ENST00000257909.3_Frame_Shift_Del_p.P314fs			Q12815	TROAP_HUMAN	trophinin associated protein	314					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTGGCCCAGCCCTTGCCTGG	0.602													38	78	---	---	---	---