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
FGFBP2	83888	broad.mit.edu	37	4	15964142	15964142	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:15964142T>A	ENST00000259989.6	-	1	717	c.611A>T	c.(610-612)gAa>gTa	p.E204V	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	204						extracellular space	growth factor binding	p.E204V(1)		central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCAACAATGTTCCCAGGCCTT	0.562000													32	37					0	0	0.760397	0	0
ANK1	286	broad.mit.edu	37	8	41519378	41519378	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr8:41519378G>A	ENST00000396942.1	-	41	5643	c.5560C>T	c.(5560-5562)Ccc>Tcc	p.P1854S	ANK1_ENST00000522543.1_Missense_Mutation_p.P129S|ANK1_ENST00000314214.8_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000522231.1_Intron|ANK1_ENST00000347528.4_Missense_Mutation_p.P1854S|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1854	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P1854S(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTCCAGGGGCCCCTCTACA	0.587000													15	69					0	0	0.500413	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27778233	27778233	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:27778233G>C	ENST00000369163.2	+	1	392	c.382G>C	c.(382-384)Gca>Cca	p.A128P		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	128					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.A128P(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CATCCAGCTCGCACGTCGTAT	0.577000													13	19					0	0	0.457914	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424388	47424388	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:47424388C>T	ENST00000404338.3	+	1	2456	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	819					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.S819F(2)									AGCAACAACTCTGTTTTACTT	0.428000													26	22					0	0	0.729181	0	0
GLI3	2737	broad.mit.edu	37	7	42003993	42003993	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:42003993C>T	ENST00000395925.3	-	15	4762	c.4678G>A	c.(4678-4680)Ggg>Agg	p.G1560R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1560					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1560R(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCATGTCCCCGATAGCCATG	0.517000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	54					0	0	0.150653	0	0
CROCCP3	114819	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1																						CCCGGCACCTTCTCAGGAGCT	0.632000													3	11					0	0	0.115264	0	0
VWA8	23078	broad.mit.edu	37	13	42440148	42440148	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr13:42440148T>C	ENST00000379310.3	-	11	1305	c.1237A>G	c.(1237-1239)Agt>Ggt	p.S413G	VWA8_ENST00000281496.6_Missense_Mutation_p.S413G	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.S413G(1)									CAAGGTTGACTTAATAGCCTG	0.448000													52	13					0	0	0.870114	0	0
COL25A1	84570	broad.mit.edu	37	4	109773411	109773411	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:109773411T>C	ENST00000399132.1	-	26	1900	c.1370A>G	c.(1369-1371)cAa>cGa	p.Q457R	COL25A1_ENST00000399127.1_Missense_Mutation_p.Q430R|COL25A1_ENST00000399126.1_Missense_Mutation_p.Q457R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	457	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.Q457R(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTGTAGTCCTTGAGGTCCAGG	0.348000													22	36					0	0	0.624587	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988910	103988910	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:103988910G>C	ENST00000370005.3	+	4	935	c.714G>C	c.(712-714)tgG>tgC	p.W238C		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	238					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.W238C(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACTTATTCTGGTCCTTCATCT	0.493000													20	13					0	0	0.624587	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													4	50					0	0	0.150653	0	0
THADA	63892	broad.mit.edu	37	2	43779441	43779441	+	Silent	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:43779441T>C	ENST00000405006.4	-	18	3063	c.2712A>G	c.(2710-2712)gtA>gtG	p.V904V	THADA_ENST00000402360.2_Silent_p.V904V|THADA_ENST00000405975.2_Silent_p.V904V|THADA_ENST00000415080.2_Silent_p.V614V|THADA_ENST00000330266.7_Silent_p.V614V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	904							binding	p.V904V(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGCCTGAGATACTTCTTCCT	0.368000													10	11					0	0	0.335167	0	0
TLR2	7097	broad.mit.edu	37	4	154626147	154626147	+	Silent	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:154626147C>T	ENST00000260010.6	+	1	3496	c.2088C>T	c.(2086-2088)agC>agT	p.S696S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	696	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S696S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTGAAAAGAGCCACAAAACTG	0.418000													66	90					0	0	0.870114	0	0
TGM7	116179	broad.mit.edu	37	15	43585154	43585154	+	Splice_Site	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr15:43585154T>A	ENST00000452443.2	-	3	198		c.e3-2			NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7						peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCTTGGGTCCTGTGTAGGAGA	0.562000													3	101					0	0	0.115264	0	0
HK3	3101	broad.mit.edu	37	5	176314276	176314276	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:176314276C>T	ENST00000292432.5	-	12	1754	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	555	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.V555M(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGTGGTCACACGTACCAGG	0.622000													5	29					0	0	0.217242	0	0
CALU	813	broad.mit.edu	37	7	128399046	128399046	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:128399046C>A	ENST00000542996.2	+	5	1504	c.561C>A	c.(559-561)ttC>ttA	p.F187L	CALU_ENST00000538546.1_Missense_Mutation_p.F28L|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.F179L|CALU_ENST00000535011.2_Missense_Mutation_p.F179L|CALU_ENST00000479257.1_Missense_Mutation_p.F187L|CALU_ENST00000449187.2_Missense_Mutation_p.F179L	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	179					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.F179L(1)|p.F187L(1)		kidney(2)|large_intestine(3)|lung(5)	10						TCACAGCTTTCCTGCACCCTG	0.433000													21	79					1.9806e-07	2.31755e-07	0.624587	1	0
IGKV3-11	28914	broad.mit.edu	37	2	89326784	89326784	+	RNA	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:89326784C>T	ENST00000483158.1	-	0	275																											GCTGGGATGCCAGTGGCCCTG	0.542000													5	54					0	0	0.184627	0	0
RNF144A	9781	broad.mit.edu	37	2	7170260	7170260	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:7170260G>A	ENST00000320892.6	+	8	1103	c.661G>A	c.(661-663)Gat>Aat	p.D221N	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	221						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	p.D221N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CTCACAGGATGATTTCCTTCT	0.527000													7	57					0	0	0.248553	0	0
PRL	5617	broad.mit.edu	37	6	22290538	22290538	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:22290538C>G	ENST00000306482.1	-	4	875	c.357G>C	c.(355-357)tgG>tgC	p.W119C	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	119					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	p.W119C(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GAGGCTCATTCCAGGATCGCA	0.428000													3	58					0	0	0.115264	0	0
NADK	65220	broad.mit.edu	37	1	1688055	1688055	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:1688055C>G	ENST00000344463.4	-	7	1042	c.821G>C	c.(820-822)tGc>tCc	p.C274S	NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000342348.5_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.C274S			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	p.?(2)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCTGGAAGCAAAGTGCCAA	0.557000													4	21					0	0	0.150653	0	0
ZNF99	7652	broad.mit.edu	37	19	22952001	22952001	+	Splice_Site	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:22952001C>T	ENST00000397104.3	-	2	191	c.193_splice	c.e2+1	p.L64_splice	ZNF99_ENST00000596209.1_Splice_Site_p.L43_splice					zinc finger protein 99									p.L64L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATCCTCACCCAGGAAGACCA	0.368000													18	57					0	0	0.575678	0	0
WDR62	284403	broad.mit.edu	37	19	36587934	36587934	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:36587934C>T	ENST00000401500.2	+	21	2508	c.2473C>T	c.(2473-2475)Cgt>Tgt	p.R825C	WDR62_ENST00000270301.7_Missense_Mutation_p.R825C	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	825					cerebral cortex development	nucleus		p.R825C(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCAGATCCTCGTTGCCTGCT	0.552000													6	1					0	0	0.217242	0	0
SEC24C	9632	broad.mit.edu	37	10	75520491	75520491	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:75520491G>T	ENST00000339365.2	+	7	1033	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C	SEC24C_ENST00000345254.4_Missense_Mutation_p.G291C|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.G149C|SEC24C_ENST00000411652.2_Missense_Mutation_p.G149C	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	291					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	p.G291C(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACCAGCCCGGGGCCCTCAGTC	0.562000													28	18					1.39806e-14	1.78394e-14	0.729181	1	0
SRCAP	10847	broad.mit.edu	37	16	30732065	30732065	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:30732065C>T	ENST00000262518.4	+	20	3404	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R1007W|SRCAP_ENST00000395059.2_Missense_Mutation_p.R1007W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1007	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.R1007W(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCAAGAAGGCCGGACAGTGGT	0.572000													21	75					0	0	0.624587	0	0
BMS1	9790	broad.mit.edu	37	10	43291968	43291968	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:43291968C>G	ENST00000374518.4	+	10	1339	c.1276C>G	c.(1276-1278)Cga>Gga	p.R426G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	426					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R426G(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAACACTGGTCGAATGCGTCG	0.383000													16	26					0	0	0.557998	0	0
TMEM192	201931	broad.mit.edu	37	4	166009711	166009711	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:166009711G>A	ENST00000306480.5	-	4	628	c.483C>T	c.(481-483)ttC>ttT	p.F161F	TMEM192_ENST00000506087.1_Silent_p.F157F	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	161						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		p.F161F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CAGGCTCTGGGAAGGAGTGCT	0.453000													8	4					0	0	0.278610	0	0
PNPLA6	10908	broad.mit.edu	37	19	7622061	7622061	+	Silent	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:7622061G>T	ENST00000221249.6	+	30	3605	c.3174G>T	c.(3172-3174)ctG>ctT	p.L1058L	PNPLA6_ENST00000450331.3_Silent_p.L1058L|PNPLA6_ENST00000414982.3_Silent_p.L1106L|PNPLA6_ENST00000600737.1_Silent_p.L1096L|PNPLA6_ENST00000545201.2_Silent_p.L1031L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1097	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.L1058L(1)		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						CAGGCTCCCTGTGGCGGTACG	0.677000													16	24					5.03518e-11	6.28284e-11	0.557998	1	0
PDE4DIP	9659	broad.mit.edu	37	1	145075778	145075778	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:145075778T>A	ENST00000369359.4	-	1	123	c.85A>T	c.(85-87)Acg>Tcg	p.T29S	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T29S|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.T29S|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.T29S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.T29S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGTAAGGCGTGTAGTGAGCC	0.716000			T	PDGFRB	MPD								7	121					0	0	0.307466	0	0
BBS2	583	broad.mit.edu	37	16	56553688	56553688	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:56553688C>A	ENST00000245157.5	-	1	507	c.87G>T	c.(85-87)ccG>ccT	p.P29P	BBS2_ENST00000568104.1_Silent_p.P29P	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	29					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.P29P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCGCCAGGCACGGGTGAGTCC	0.692000									Bardet-Biedl syndrome				5	4					0.0293803	0.0302382	0.248553	1	0
FBN3	84467	broad.mit.edu	37	19	8148175	8148175	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:8148175C>G	ENST00000600128.1	-	57	7583	c.7169G>C	c.(7168-7170)tGt>tCt	p.C2390S	FBN3_ENST00000601739.1_Missense_Mutation_p.C2390S|FBN3_ENST00000270509.2_Missense_Mutation_p.C2390S			Q75N90	FBN3_HUMAN	fibrillin 3	2390	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.C2390S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCGGCCTGACAGTGGCAGCG	0.597000													3	54					0	0	0.115264	0	0
ADCY3	109	broad.mit.edu	37	2	25044490	25044490	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:25044490T>A	ENST00000260600.5	-	19	3874	c.3023A>T	c.(3022-3024)gAg>gTg	p.E1008V	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.E595V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1008					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	p.E1008V(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTGCCAGCGCTCTCTCTCGGA	0.597000													30	135					0	0	0.760397	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149292	70149292	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr12:70149292C>T	ENST00000550536.1	+	2	609	c.152C>T	c.(151-153)aCc>aTc	p.T51I	RAB3IP_ENST00000378815.6_Missense_Mutation_p.T35I|RAB3IP_ENST00000362025.5_Missense_Mutation_p.T51I|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.T35I|RAB3IP_ENST00000483530.2_Missense_Mutation_p.T35I	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	51					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.T51I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGCAGACTACCTCACCAAGT	0.473000													14	45					0	0	0.479597	0	0
ITIH5	80760	broad.mit.edu	37	10	7657947	7657947	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:7657947G>T	ENST00000256861.6	-	7	1015	c.937C>A	c.(937-939)Cag>Aag	p.Q313K	ITIH5_ENST00000397146.2_Missense_Mutation_p.Q313K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.Q99K|ITIH5_ENST00000446830.2_Missense_Mutation_p.Q95K|ITIH5_ENST00000397145.2_Missense_Mutation_p.Q313K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	313	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.Q313K(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCACTCACCTGCCGGAGTTTG	0.483000													13	26					2.23348e-06	2.52949e-06	0.500413	1	0
TENM4	26011	broad.mit.edu	37	11	78413148	78413148	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:78413148A>G	ENST00000278550.7	-	28	4972	c.4510T>C	c.(4510-4512)Tca>Cca	p.S1504P		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.S1504P(2)									GCAACGAGTGAGATCTCTCCA	0.478000													3	23					0	0	0.150653	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1810016	1810016	+	Splice_Site	SNP	A	A	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:1810016A>C	ENST00000250894.4	+	11	1458	c.1301_splice	c.e11+1	p.K434_splice	MAPK8IP3_ENST00000356010.5_Splice_Site_p.K428_splice	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	434					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.K434T(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTGGAAACCAAGTAAGAGTGC	0.582000													7	34					0	0	0.248553	0	0
FRAS1	80144	broad.mit.edu	37	4	79334175	79334175	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:79334175T>A	ENST00000264895.6	+	32	4801	c.4361T>A	c.(4360-4362)aTc>aAc	p.I1454N	FRAS1_ENST00000325942.6_Missense_Mutation_p.I1454N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1453					cell communication	integral to membrane|plasma membrane	metal ion binding	p.I1454N(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGTTCAACATCGCGATCTTA	0.507000													6	10					0	0	0.278610	0	0
MYO18A	399687	broad.mit.edu	37	17	27425147	27425147	+	Silent	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:27425147A>T	ENST00000527372.1	-	25	4146	c.3966T>A	c.(3964-3966)gcT>gcA	p.A1322A	MYO18A_ENST00000354329.4_Silent_p.A1322A|MYO18A_ENST00000533112.1_Silent_p.A1322A|MYO18A_ENST00000531253.1_Silent_p.A1322A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1322					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.A1322A(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTCCTTCTCAGCCCGGAGCC	0.612000													70	200					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179598223	179598223	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:179598223C>A	ENST00000589042.1	-	54	16021	c.15797G>T	c.(15796-15798)cGa>cTa	p.R5266L	TTN_ENST00000591111.1_Missense_Mutation_p.R4949L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4022L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4949	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4022L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTCTGCTCGCTCAATGAT	0.448000													36	136					6.19805e-25	8.16752e-25	0.812448	1	0
FER1L6	654463	broad.mit.edu	37	8	125107213	125107213	+	Silent	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr8:125107213T>C	ENST00000522917.1	+	35	4835	c.4629T>C	c.(4627-4629)tgT>tgC	p.C1543C	FER1L6_ENST00000399018.1_Silent_p.C1543C|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1543						integral to membrane		p.C1543C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGTCGGGTGTAGGCTGGTTC	0.488000													33	30					0	0	0.750413	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71377048	71377048	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:71377048T>C	ENST00000244230.2	+	11	2301	c.1949T>C	c.(1948-1950)tTa>tCa	p.L650S		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	650					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	p.L650S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTTTCTAAATTACAAGATCAA	0.299000													11	40					0	0	0.361761	0	0
KCNU1	157855	broad.mit.edu	37	8	36788569	36788569	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr8:36788569G>A	ENST00000399881.3	+	25	2874	c.2837G>A	c.(2836-2838)gGt>gAt	p.G946D	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	946						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.G946D(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAAGTCTATGGTGTGGCAGAT	0.448000													24	27					0	0	0.639603	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	33					0	0	0.150653	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118587	11118587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:11118587G>T	ENST00000358026.2	+	14	2295	c.2011G>T	c.(2011-2013)Gaa>Taa	p.E671*	SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E671*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E671*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E671*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E671*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E671*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E671*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E671*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E671*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	671	Poly-Glu.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E671*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGGAGGAGGAAGAGCAGCC	0.602000			"""F, N, Mis"""		NSCLC								6	13					0.0381472	0.0391182	0.278610	1	0
ZNF711	7552	broad.mit.edu	37	X	84525150	84525150	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chrX:84525150C>T	ENST00000360700.4	+	9	2130	c.1244C>T	c.(1243-1245)aCa>aTa	p.T415I	ZNF711_ENST00000276123.3_Missense_Mutation_p.T369I|ZNF711_ENST00000373165.3_Missense_Mutation_p.T369I|ZNF711_ENST00000542798.1_Missense_Mutation_p.T211I|ZNF711_ENST00000395402.1_Missense_Mutation_p.T377I			Q9Y462	ZN711_HUMAN	zinc finger protein 711	369					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.T379I(1)|p.T369I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGTGGCAAACAGGTAAATAC	0.343000													8	6					0	0	0.278610	0	0
OSBPL10	114884	broad.mit.edu	37	3	31917965	31917965	+	Missense_Mutation	SNP	A	A	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:31917965A>C	ENST00000396556.2	-	3	619	c.497T>G	c.(496-498)cTt>cGt	p.L166R	OSBPL10_ENST00000438237.2_Missense_Mutation_p.L166R	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	166	PH.				lipid transport		lipid binding	p.L166R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACAAGCTCGAAGCTGAGTCAC	0.423000													9	30					0	0	0.335167	0	0
C7orf26	79034	broad.mit.edu	37	7	6634192	6634192	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:6634192T>G	ENST00000344417.5	+	3	808	c.541T>G	c.(541-543)Ttc>Gtc	p.F181V	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Missense_Mutation_p.F162V	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	181								p.F181V(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTGCTGCCAGTTCATCACCTC	0.468000													8	61					0	0	0.335167	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270924	1270924	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:1270924G>A	ENST00000348261.5	+	35	7240	c.6992G>A	c.(6991-6993)tGt>tAt	p.C2331Y	CACNA1H_ENST00000358590.4_Missense_Mutation_p.C2325Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.C2325Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2331					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.C2325Y(1)|p.C2331Y(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTCCCCCAGTGTCCTCTGGAG	0.682000													9	36					0	0	0.335167	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													5	56					0	0	0.184627	0	0
PHKG2	5261	broad.mit.edu	37	16	30767768	30767768	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:30767768G>T	ENST00000563588.1	+	8	967	c.728G>T	c.(727-729)cGc>cTc	p.R243L	PHKG2_ENST00000328273.7_Missense_Mutation_p.R247L|PHKG2_ENST00000424889.3_Missense_Mutation_p.R243L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	243	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.R243L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTGATGTTACGCATGATCATG	0.602000													12	25					1.08611e-07	1.27618e-07	0.387290	1	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3592814	3592814	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:3592814C>A	ENST00000550383.1	-	7	913	c.725G>T	c.(724-726)gGg>gTg	p.G242V	P2RX5_ENST00000345901.3_Missense_Mutation_p.G218V|P2RX5_ENST00000552276.1_Missense_Mutation_p.G241V|P2RX5_ENST00000552050.1_Missense_Mutation_p.G182V|P2RX5_ENST00000551178.1_Missense_Mutation_p.G217V|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000225328.5_Missense_Mutation_p.G242V|P2RX5_ENST00000547178.1_Missense_Mutation_p.G241V|P2RX5_ENST00000435558.1_Missense_Mutation_p.G242V														p.G242V(1)									GAAGTCGCTCCCGGCCCAGCG	0.632000													13	23					1.5842e-08	1.90916e-08	0.435327	1	0
KLK2	3817	broad.mit.edu	37	19	51380187	51380187	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:51380187G>C	ENST00000325321.3	+	4	778	c.553G>C	c.(553-555)Gct>Cct	p.A185P	KLK2_ENST00000358049.4_Missense_Mutation_p.A185P|KLK2_ENST00000391810.2_Missense_Mutation_p.A83P			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	185	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.A185P(2)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGACATGTGTGCTAGAGCTTA	0.542000			T	ETV4	prostate								76	33					0	0	0.870114	0	0
ZNF337	26152	broad.mit.edu	37	20	25667036	25667036	+	Silent	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:25667036G>T	ENST00000376436.1	-	1	557	c.18C>A	c.(16-18)gcC>gcA	p.A6A	ZNF337_ENST00000252979.5_Silent_p.A6A|ZNF337_ENST00000538750.1_Silent_p.A6A|ZNF337_ENST00000481610.1_5'UTR					zinc finger protein 337									p.A6A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGTCTCCTGGCTCCCTGAG	0.552000													8	20					1.5842e-08	1.90916e-08	0.435327	1	0
HPS4	89781	broad.mit.edu	37	22	26875276	26875276	+	Silent	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr22:26875276T>C	ENST00000398145.2	-	3	703	c.87A>G	c.(85-87)gaA>gaG	p.E29E	HPS4_ENST00000402105.3_Silent_p.E24E|HPS4_ENST00000398141.1_Silent_p.E24E|HPS4_ENST00000336873.5_Silent_p.E29E	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	29					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.E24E(1)|p.E29E(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGGATCGCCTTCTTCCTTTA	0.438000									Hermansky-Pudlak syndrome				9	25					0	0	0.335167	0	0
NRXN3	9369	broad.mit.edu	37	14	79423666	79423666	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:79423666A>G	ENST00000554719.1	+	8	1729	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	NRXN3_ENST00000335750.5_Missense_Mutation_p.K413R	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	183					angiogenesis|cell adhesion	integral to membrane		p.K413R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGAGAGGAAAAAGCCTTAAG	0.493000													28	56					0	0	0.693898	0	0
ACRC	93953	broad.mit.edu	37	X	70824260	70824260	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chrX:70824260A>G	ENST00000373695.1	+	7	1670	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	ACRC_ENST00000373696.3_Missense_Mutation_p.N378S			Q96QF7	ACRC_HUMAN	acidic repeat containing	378						nucleus		p.N378S(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTTGGTGAGAATCTCAGCAAA	0.512000													5	3					0	0	0.217242	0	0
DSPP	1834	broad.mit.edu	37	4	88535135	88535135	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:88535135A>G	ENST00000399271.1	+	5	1441	c.1321A>G	c.(1321-1323)Aca>Gca	p.T441A	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.T441A	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	441	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.T441A(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ACACAGCAATACAGGTAGTGA	0.413000													17	28					0	0	0.500413	0	0
COL6A1	1291	broad.mit.edu	37	21	47404299	47404299	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr21:47404299G>C	ENST00000361866.3	+	3	458	c.344G>C	c.(343-345)aGc>aCc	p.S115T		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	115	N-terminal globular domain.|VWFA 1.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.S115T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCACTCAAAAGCAGCGTGGAC	0.637000													13	15					0	0	0.435327	0	0
BMP2K	55589	broad.mit.edu	37	4	79793852	79793852	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:79793852C>A	ENST00000335016.5	+	13	1859	c.1693C>A	c.(1693-1695)Ctt>Att	p.L565I	BMP2K_ENST00000502871.1_Missense_Mutation_p.L565I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	565						nucleus	ATP binding|protein serine/threonine kinase activity	p.L565I(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACCTGAATATCTTACCTCCCC	0.458000													9	46					2.17888e-05	2.40017e-05	0.335167	1	0
TMEM5	10329	broad.mit.edu	37	12	64202478	64202478	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr12:64202478A>T	ENST00000537373.1	+	6	1106	c.158A>T	c.(157-159)gAa>gTa	p.E53V	TMEM5_ENST00000261234.6_Missense_Mutation_p.E313V	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	313						integral to plasma membrane		p.E313V(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAACAAATGAAAGTCTTAAG	0.378000													15	47					0	0	0.520397	0	0
OR13C3	138803	broad.mit.edu	37	9	107298956	107298956	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr9:107298956G>A	ENST00000374781.2	-	1	181	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L47I(1)|p.L47F(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TATCCAGAAAGACCCAGAAGA	0.363000													16	21					0	0	0.520397	0	0
CCDC150	284992	broad.mit.edu	37	2	197534559	197534559	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:197534559T>C	ENST00000389175.4	+	8	1030	c.895T>C	c.(895-897)Tct>Cct	p.S299P	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000472405.2_Silent_p.L113L|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	299								p.S299P(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTTTTTAGCTTCTAGAGATGA	0.318000													19	69					0	0	0.624587	0	0
MYO10	4651	broad.mit.edu	37	5	16694647	16694647	+	Silent	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:16694647C>T	ENST00000513610.1	-	27	4087	c.3633G>A	c.(3631-3633)caG>caA	p.Q1211Q	MYO10_ENST00000274203.9_Silent_p.Q568Q|MYO10_ENST00000427430.2_Silent_p.Q568Q|MYO10_ENST00000505695.1_Silent_p.Q550Q|MYO10_ENST00000515803.1_Silent_p.Q550Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1211					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.Q1211Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGAGGGCCTCCTGCTTGGAGC	0.577000													13	85					0	0	0.435327	0	0
ACTN4	81	broad.mit.edu	37	19	39219684	39219684	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:39219684A>T	ENST00000252699.2	+	20	2543	c.2467A>T	c.(2467-2469)Agc>Tgc	p.S823C	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Missense_Mutation_p.S604C|ACTN4_ENST00000424234.2_Missense_Mutation_p.S433C	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	823	EF-hand 2.				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	p.S823C(1)		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)			CCCCAACCATAGCGGCCTTGT	0.612000													37	25					0	0	0.819951	0	0
PDE3B	5140	broad.mit.edu	37	11	14666084	14666084	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:14666084C>A	ENST00000282096.4	+	1	816	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	PDE3B_ENST00000455098.2_Missense_Mutation_p.L155M|PDE3B_ENST00000534317.1_3'UTR	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	155					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.L155M(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGGTGGCTGCTGGCGCTGCC	0.697000													6	6					0.00198382	0.00209527	0.248553	1	0
TMCC1	23023	broad.mit.edu	37	3	129370423	129370423	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:129370423C>A	ENST00000393238.3	-	6	2203	c.1863G>T	c.(1861-1863)acG>acT	p.T621T	TMCC1_ENST00000329333.5_Silent_p.T442T|TMCC1_ENST00000426664.2_Silent_p.T507T|TMCC1_ENST00000432054.2_Silent_p.T297T	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	621						integral to membrane		p.T621T(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AAGTGCTGAACGTCCTGTTGC	0.488000													33	79					1.1904e-30	1.58346e-30	0.769981	1	0
IGHG4	3503	broad.mit.edu	37	14	106091458	106091458	+	RNA	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:106091458C>T	ENST00000390543.2	-	0	435																											TCCTGGCTCACGTCCACCACC	0.592000													27	137					0	0	0.693898	0	0
PLCH1	23007	broad.mit.edu	37	3	155200618	155200618	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:155200618C>A	ENST00000460012.1	-	23	3464	c.3107G>T	c.(3106-3108)tGc>tTc	p.C1036F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.C1036F|PLCH1_ENST00000340059.7_Missense_Mutation_p.C1074F|PLCH1_ENST00000334686.6_Missense_Mutation_p.C1036F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1074					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C1036F(1)|p.C1074F(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTTTCCTGGCAATTGCTTGT	0.512000													32	97					3.86903e-22	5.05123e-22	0.769981	1	0
IGKV3-11	28914	broad.mit.edu	37	2	89326825	89326825	+	RNA	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:89326825G>T	ENST00000483158.1	-	0	234																											GAGCCTGGGAGCCTGGCCAGG	0.577000													6	48					0.0215528	0.0224276	0.217242	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106558443	106558443	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:106558443C>A	ENST00000526355.1	-	8	2499	c.2031G>T	c.(2029-2031)cgG>cgT	p.R677R	GUCY1A2_ENST00000282249.2_Silent_p.R708R|GUCY1A2_ENST00000347596.2_Silent_p.R698R	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	677					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.R677R(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTTCACGAGACCGCGGAATGA	0.418000													21	90					2.89027e-11	3.62247e-11	0.624587	1	0
HFM1	164045	broad.mit.edu	37	1	91851286	91851286	+	Silent	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:91851286T>C	ENST00000370425.3	-	5	698	c.600A>G	c.(598-600)aaA>aaG	p.K200K	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	200							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.K200K(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTGATTTCCCTTTGTTCATTT	0.328000													22	25					0	0	0.592651	0	0
NEFL	4747	broad.mit.edu	37	8	24813515	24813515	+	RNA	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr8:24813515C>T	ENST00000221169.5	-	0	1109							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.R172H(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGCAGGTTGCGCAGGGTCTC	0.701000													3	7					0	0	0.115264	0	0
RLN2	6019	broad.mit.edu	37	9	5300119	5300119	+	Silent	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr9:5300119T>C	ENST00000381627.3	-	2	925	c.537A>G	c.(535-537)agA>agG	p.R179R	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	179					female pregnancy	extracellular region	hormone activity	p.R179R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TAGCAAGAGATCTTTTGGTAC	0.358000													21	48					0	0	0.624587	0	0
NEK8	284086	broad.mit.edu	37	17	27062387	27062387	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:27062387G>A	ENST00000268766.6	+	4	650	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	206	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A206T(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTTCGAGGCTGCGGTGAGTGT	0.592000													4	21					0	0	0.150653	0	0
C6orf62	81688	broad.mit.edu	37	6	24706384	24706384	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:24706384C>A	ENST00000378119.4	-	5	2838	c.671G>T	c.(670-672)cGt>cTt	p.R224L	C6orf62_ENST00000540769.1_Missense_Mutation_p.R166L|C6orf62_ENST00000378102.3_Missense_Mutation_p.R195L	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	224						intracellular		p.R224L(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CATATAAGGACGGAGGTGATC	0.438000													5	39					0.00116845	0.00123873	0.217242	1	0
RIF1	55183	broad.mit.edu	37	2	152300099	152300099	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:152300099C>T	ENST00000243326.4	+	17	2345	c.1862C>T	c.(1861-1863)cCa>cTa	p.P621L	RIF1_ENST00000444746.2_Missense_Mutation_p.P621L|RIF1_ENST00000430328.2_Missense_Mutation_p.P621L|RIF1_ENST00000453091.2_Missense_Mutation_p.P621L|RIF1_ENST00000428287.2_Missense_Mutation_p.P621L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	621					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.P621L(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCAACTTCACCACTAGCTTTC	0.358000													42	68					0	0	0.864702	0	0
ADPRH	141	broad.mit.edu	37	3	119306535	119306535	+	Missense_Mutation	SNP	G	G	T	rs150984649	byFrequency	TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:119306535G>T	ENST00000478399.1	+	4	2289	c.884G>T	c.(883-885)cGa>cTa	p.R295L	ADPRH_ENST00000478927.1_Missense_Mutation_p.R295L|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Missense_Mutation_p.R295L|ADPRH_ENST00000465513.1_Missense_Mutation_p.R295L			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	295					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.R295L(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTTGCCCACCGAGCCTTTTTC	0.547000													9	45					3.09899e-07	3.58161e-07	0.307466	1	0
TYW1	55253	broad.mit.edu	37	7	66479459	66479459	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:66479459G>T	ENST00000359626.5	+	5	645	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	161	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D161Y(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGCATCCATTGATTTTCGATT	0.438000													33	78					1.06647e-15	1.37957e-15	0.788014	1	0
DMXL1	1657	broad.mit.edu	37	5	118502310	118502310	+	Splice_Site	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:118502310G>T	ENST00000311085.8	+	22	5050		c.e22-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1									p.?(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)		TTCCTTTATAGAGCTGAAAAA	0.323000													8	33					5.50884e-06	6.16465e-06	0.411799	1	0
CSMD3	114788	broad.mit.edu	37	8	113331070	113331070	+	Nonsense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr8:113331070A>T	ENST00000297405.5	-	47	7600	c.7356T>A	c.(7354-7356)tgT>tgA	p.C2452*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C2382*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C2412*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C2348*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2452	Sushi 13.					integral to membrane|plasma membrane		p.C2412*(1)|p.C2452*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATACCTTGACAAACTGGAG	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	15					0	0	0.361761	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855004	65855004	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:65855004T>C	ENST00000395325.3	+	10	1245	c.1088T>C	c.(1087-1089)gTa>gCa	p.V363A	DNAJC6_ENST00000263441.7_Missense_Mutation_p.V350A|DNAJC6_ENST00000371069.4_Missense_Mutation_p.V420A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	363	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.V363A(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACACTGGATGTAGAACTACAG	0.398000													19	37					0	0	0.592651	0	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323000													3	43					0	0	0.115264	0	0
ATP10B	23120	broad.mit.edu	37	5	160049494	160049494	+	Silent	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:160049494G>T	ENST00000327245.5	-	14	2565	c.1719C>A	c.(1717-1719)tcC>tcA	p.S573S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	573					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S573S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGAGAGGGAAGCCTTGG	0.517000													12	26					3.07112e-06	3.46422e-06	0.387290	1	0
PHC2	1912	broad.mit.edu	37	1	33832751	33832751	+	Silent	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:33832751A>T	ENST00000257118.5	-	6	995	c.942T>A	c.(940-942)gtT>gtA	p.V314V	PHC2_ENST00000431992.1_Silent_p.V285V|PHC2_ENST00000419414.2_Silent_p.V314V|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	314					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	p.V314V(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCACAGCAGGAACCGTCCGGC	0.587000													21	108					0	0	0.592651	0	0
CRYAA	1409	broad.mit.edu	37	21	44592264	44592264	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr21:44592264C>A	ENST00000291554.2	+	3	488	c.396C>A	c.(394-396)tcC>tcA	p.S132S	CRYAA_ENST00000398132.1_Silent_p.S95S|CRYAA_ENST00000398133.1_Silent_p.S112S|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	132					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	p.S132S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCTCTTGCTCCCTGTCTGCCG	0.667000													5	46					0.248553	0.251225	0.248553	1	0
CNDP1	84735	broad.mit.edu	37	18	72250894	72250894	+	Silent	SNP	G	G	T	rs143921310		TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr18:72250894G>T	ENST00000582365.1	+	10	1344	c.1278G>T	c.(1276-1278)ccG>ccT	p.P426P	CNDP1_ENST00000358821.3_Silent_p.P469P			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	469					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.P469P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTAATTCCGCTGGGAGCTG	0.478000													11	45					0.00829132	0.00869201	0.361761	1	0
DDX60L	91351	broad.mit.edu	37	4	169344796	169344796	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:169344796C>T	ENST00000511577.1	-	15	2307	c.2060G>A	c.(2059-2061)gGc>gAc	p.G687D	DDX60L_ENST00000505890.1_Missense_Mutation_p.G687D|DDX60L_ENST00000260184.7_Missense_Mutation_p.G687D			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	687							ATP binding|ATP-dependent helicase activity|RNA binding	p.G687D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATCATTAAAGCCTAAATATTT	0.308000													4	4					0	0	0.150653	0	0
JPH3	57338	broad.mit.edu	37	16	87678370	87678370	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:87678370C>T	ENST00000284262.2	+	2	1131	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	297					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.R297C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GAACGACAAACGCTCCGGCTT	0.672000													34	17					0	0	0.779181	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904667	144904667	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chrX:144904667G>A	ENST00000370490.1	+	1	4979	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V242I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V242I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V242I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V242I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	242	LRRCT 1.					integral to membrane		p.V242I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGAGATTGTCTGTGAGAC	0.498000													61	25					0	0	0.870114	0	0
GABRA2	2555	broad.mit.edu	37	4	46252429	46252429	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:46252429C>A	ENST00000510861.1	-	10	1425	c.1252G>T	c.(1252-1254)Gac>Tac	p.D418Y	GABRA2_ENST00000381620.4_Missense_Mutation_p.D418Y|GABRA2_ENST00000540012.1_Missense_Mutation_p.D423Y|GABRA2_ENST00000507069.1_Missense_Mutation_p.D478Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.D418Y|GABRA2_ENST00000514090.1_Missense_Mutation_p.D418Y			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	418					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D418Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GACATTCTGTCAATTTTGCTA	0.408000													42	126					1.52319e-26	2.01661e-26	0.840704	1	0
KARS	3735	broad.mit.edu	37	16	75665654	75665654	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:75665654C>T	ENST00000319410.5	-	9	1220	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	KARS_ENST00000302445.3_Missense_Mutation_p.E339K|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	339					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	p.E339K(1)|p.E367K(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATGTAGAACTCACAGGTGGTG	0.498000													7	139					0	0	0.278610	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1																						AGCTGAATCATGCAGAATTTG	0.408000													3	29					0	0	0.115264	0	0
MARK3	4140	broad.mit.edu	37	14	103931921	103931921	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:103931921A>G	ENST00000429436.2	+	8	1078	c.568A>G	c.(568-570)Atg>Gtg	p.M190V	MARK3_ENST00000416682.2_Missense_Mutation_p.M213V|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000335102.5_Missense_Mutation_p.M213V|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000303622.9_Missense_Mutation_p.M190V|MARK3_ENST00000216288.7_Missense_Mutation_p.M190V|MARK3_ENST00000553942.1_Missense_Mutation_p.M190V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	190	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.M190V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGATGCCGATATGAACATTAA	0.373000													33	58					0	0	0.750413	0	0
TIFAB	497189	broad.mit.edu	37	5	134785191	134785191	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:134785191C>G	ENST00000537858.1	-	2	639	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	147								p.E147Q(1)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTCCCATTCGTCAGTTTCC	0.577000													8	49					0	0	0.307466	0	0
RYR1	6261	broad.mit.edu	37	19	39013721	39013721	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:39013721T>G	ENST00000355481.4	+	68	10444	c.10313T>G	c.(10312-10314)gTg>gGg	p.V3438G	RYR1_ENST00000360985.3_Missense_Mutation_p.V3438G|RYR1_ENST00000359596.3_Missense_Mutation_p.V3438G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3438					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V3438G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCAGGATGGTGGGCGAGATC	0.682000													5	10					0	0	0.184627	0	0
BRINP2	57795	broad.mit.edu	37	1	177250450	177250450	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:177250450A>T	ENST00000361539.4	+	8	2450	c.2138A>T	c.(2137-2139)cAg>cTg	p.Q713L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		713						extracellular region		p.Q713L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAAGGTTCCCAGGACTCTGCA	0.527000													4	105					0	0	0.217242	0	0
LPHN3	23284	broad.mit.edu	37	4	62897172	62897172	+	Silent	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:62897172A>T	ENST00000512091.1	+	22	3978	c.3231A>T	c.(3229-3231)atA>atT	p.I1077I	LPHN3_ENST00000511324.1_Silent_p.I1136I|LPHN3_ENST00000506700.1_Silent_p.I1068I|LPHN3_ENST00000508693.1_Silent_p.I1145I|LPHN3_ENST00000545650.1_Silent_p.I1077I|LPHN3_ENST00000514996.1_Silent_p.I1068I|LPHN3_ENST00000508946.1_Silent_p.I1077I|LPHN3_ENST00000507164.1_Silent_p.I1136I|LPHN3_ENST00000514591.1_Silent_p.I1077I|LPHN3_ENST00000506746.1_Silent_p.I1136I|LPHN3_ENST00000504896.1_Silent_p.I1077I|LPHN3_ENST00000507625.1_Silent_p.I1136I|LPHN3_ENST00000509896.1_Silent_p.I1145I|LPHN3_ENST00000506720.1_Silent_p.I1145I|LPHN3_ENST00000514157.1_Silent_p.I1068I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1055					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.I1077I(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CATGGGTTATAGGTGCAATAG	0.358000													19	60					0	0	0.639603	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188847	140188847	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:140188847C>T	ENST00000530339.1	+	1	2075	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A692V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A692V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1												p.A692V(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGATGCTGCGCTGGTGGAT	0.637000													29	48					0	0	0.729181	0	0
PREPL	9581	broad.mit.edu	37	2	44586775	44586775	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:44586775T>A	ENST00000409936.1	-	2	517	c.80A>T	c.(79-81)cAt>cTt	p.H27L	PREPL_ENST00000540817.1_Intron|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.H27L|PREPL_ENST00000378511.3_Missense_Mutation_p.H27L|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.H27L|PREPL_ENST00000410081.1_Missense_Mutation_p.H27L|PREPL_ENST00000378520.3_Missense_Mutation_p.H27L	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	27					proteolysis	cytosol	serine-type endopeptidase activity	p.H27L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTGATTCAAATGCTGTTTCTG	0.343000													31	72					0	0	0.729181	0	0
SETD7	80854	broad.mit.edu	37	4	140444545	140444545	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:140444545T>A	ENST00000274031.3	-	5	1243	c.607A>T	c.(607-609)Acc>Tcc	p.T203S	SETD7_ENST00000506866.2_Missense_Mutation_p.T203S	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	203					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	p.T203S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AGAGCATTGGTAGAAATGCAA	0.373000													19	73					0	0	0.608945	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410751	105410751	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:105410751C>A	ENST00000333244.5	-	7	11156	c.11037G>T	c.(11035-11037)ggG>ggT	p.G3679G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3679						nucleus		p.G3679G(1)		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)			TCTTCAGGTCCCCCTGCATGG	0.632000													67	133					3.09758e-43	4.15961e-43	0.870114	1	0
PIWIL3	440822	broad.mit.edu	37	22	25151777	25151777	+	Silent	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr22:25151777T>C	ENST00000332271.5	-	6	1082	c.666A>G	c.(664-666)ctA>ctG	p.L222L	PIWIL3_ENST00000527701.1_Silent_p.L113L|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.L113L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	222					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.L222L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTAATAGCGTAGGCAATCTG	0.428000													11	47					0	0	0.361761	0	0
ZC3H10	84872	broad.mit.edu	37	12	56514815	56514815	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr12:56514815C>T	ENST00000257940.2	+	3	745	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	157							nucleic acid binding|zinc ion binding	p.R157C(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GTGCAAGTTCCGTCACCTGCA	0.567000													9	37					0	0	0.361761	0	0
EYA4	2070	broad.mit.edu	37	6	133767772	133767772	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:133767772A>G	ENST00000367895.5	+	4	552	c.88A>G	c.(88-90)Atg>Gtg	p.M30V	EYA4_ENST00000531901.1_Missense_Mutation_p.M30V|EYA4_ENST00000355286.6_Missense_Mutation_p.M30V|EYA4_ENST00000355167.3_Missense_Mutation_p.M30V|EYA4_ENST00000525849.1_Missense_Mutation_p.M30V|EYA4_ENST00000452339.2_Missense_Mutation_p.M30V|EYA4_ENST00000431403.2_Missense_Mutation_p.M30V|EYA4_ENST00000430974.2_Missense_Mutation_p.M30V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	30					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.M30V(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TACCAGGTCTATGGAAATGCA	0.403000													26	25					0	0	0.706142	0	0
MMP2	4313	broad.mit.edu	37	16	55523626	55523626	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:55523626G>C	ENST00000219070.4	+	7	1579	c.1070G>C	c.(1069-1071)gGc>gCc	p.G357A	MMP2_ENST00000570308.1_Missense_Mutation_p.G281A|MMP2_ENST00000543485.1_Missense_Mutation_p.G281A|MMP2_ENST00000437642.2_Missense_Mutation_p.G307A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	357	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.G357A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACTTTCCTGGGCAACAAATAT	0.582000													18	70					0	0	0.539581	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249915	140249915	+	Silent	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:140249915C>T	ENST00000398640.2	+	1	1227	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1												p.D409D(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTGGACAGCGCCCTGG	0.617000													46	76					0	0	0.870114	0	0
COL27A1	85301	broad.mit.edu	37	9	117027203	117027203	+	Splice_Site	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr9:117027203G>T	ENST00000356083.3	+	30	3640		c.e30-1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						cell adhesion		extracellular matrix structural constituent	p.?(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTTCCCACAGGGCCCTCCAG	0.652000													13	51					1.49906e-05	1.65778e-05	0.457914	1	0
RRP9	9136	broad.mit.edu	37	3	51972152	51972152	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:51972152A>T	ENST00000232888.6	-	3	312	c.239T>A	c.(238-240)cTg>cAg	p.L80Q		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	80	Glu-rich.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	p.L80P(1)|p.L80Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGCCAAGCGCAGCTTCTTTTC	0.637000													12	10					0	0	0.411799	0	0
ZNF732	654254	broad.mit.edu	37	4	289872	289872	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:289872G>C	ENST00000419098.1	-	2	86	c.76C>G	c.(76-78)Cag>Gag	p.Q26E		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q26E(2)		endometrium(1)|lung(2)	3						TACAAATTCTGCTGGGCAGGG	0.428000													5	56					0	0	0.184627	0	0
USP36	57602	broad.mit.edu	37	17	76823389	76823389	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:76823389C>A	ENST00000312010.6	-	6	951	c.627G>T	c.(625-627)gcG>gcT	p.A209A	USP36_ENST00000590546.2_Silent_p.A209A|USP36_ENST00000542802.2_Silent_p.A209A|USP36_ENST00000589424.1_Silent_p.A209A	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	209					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A209A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGAACTCATGCGCGTCCTCCT	0.592000													9	23					0.0581538	0.059418	0.335167	1	0
NECAB3	63941	broad.mit.edu	37	20	32246615	32246615	+	Missense_Mutation	SNP	A	A	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:32246615A>C	ENST00000246190.6	-	9	960	c.905T>G	c.(904-906)gTc>gGc	p.V302G	NECAB3_ENST00000375238.4_Missense_Mutation_p.V268G|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	302					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	p.V302G(1)		large_intestine(3)|lung(5)|skin(2)	10						TGCCACCTGGACCTGCCTCTG	0.672000													3	12					0	0	0.248553	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509216	171509216	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:171509216G>A	ENST00000367742.3	+	16	2853	c.2611G>A	c.(2611-2613)Gca>Aca	p.A871T	PRRC2C_ENST00000338920.4_Missense_Mutation_p.A869T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.A871T|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A869T			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	869							protein C-terminus binding	p.A871T(2)									ATCAAGTGAGGCACAAGTACA	0.403000													38	99					0	0	0.827153	0	0
INTS12	57117	broad.mit.edu	37	4	106603997	106603997	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:106603997G>A	ENST00000451321.2	-	7	1761	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	INTS12_ENST00000340139.5_Missense_Mutation_p.P428S|INTS12_ENST00000394735.1_Missense_Mutation_p.P428S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	428	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding	p.P428S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GATGCTGAGGGAGAGCTGCTG	0.458000													53	90					0	0	0.870114	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103060406	103060406	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:103060406C>G	ENST00000375735.2	+	45	7442	c.7298C>G	c.(7297-7299)cCa>cGa	p.P2433R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P2433R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2433	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTAGTTACCCAGAAAGAGAG	0.299000													10	33					0	0	0.387290	0	0
C9orf41	138199	broad.mit.edu	37	9	77599827	77599827	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr9:77599827A>G	ENST00000376834.3	-	7	1276	c.1124T>C	c.(1123-1125)gTa>gCa	p.V375A	RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	375								p.V375A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TCTTACCTCTACCTTGAATCC	0.373000													9	27					0	0	0.335167	0	0
MFSD12	126321	broad.mit.edu	37	19	3551133	3551133	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:3551133C>T	ENST00000355415.2	-	2	527	c.358G>A	c.(358-360)Gcg>Acg	p.A120T	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.A120T|MFSD12_ENST00000389395.3_Missense_Mutation_p.A120T	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	120					transmembrane transport	integral to membrane		p.A120T(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGCGTGGCCGCCCCACAGCCC	0.652000													6	7					0	0	0.248553	0	0
CNDP2	55748	broad.mit.edu	37	18	72180861	72180861	+	Silent	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr18:72180861G>T	ENST00000324262.4	+	8	1126	c.810G>T	c.(808-810)acG>acT	p.T270T	CNDP2_ENST00000579847.1_Silent_p.T270T|CNDP2_ENST00000324301.8_Silent_p.T186T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	270						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	p.T270T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCGCCGTCACGGAAGAGGAGC	0.587000													12	46					2.27111e-07	2.6465e-07	0.411799	1	0
ZNF343	79175	broad.mit.edu	37	20	2464228	2464228	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:2464228G>A	ENST00000278772.4	-	6	1866	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S460F(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTTCTCTCCAGAGTGCGTCCG	0.527000													17	38					0	0	0.557998	0	0
PARD3	56288	broad.mit.edu	37	10	34663923	34663923	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:34663923C>A	ENST00000374789.3	-	11	1872	c.1547G>T	c.(1546-1548)gGa>gTa	p.G516V	PARD3_ENST00000374776.1_Missense_Mutation_p.G516V|PARD3_ENST00000544292.1_Missense_Mutation_p.G246V|PARD3_ENST00000346874.4_Missense_Mutation_p.G516V|PARD3_ENST00000545260.1_Missense_Mutation_p.G472V|PARD3_ENST00000374794.3_Missense_Mutation_p.G472V|PARD3_ENST00000340077.5_Missense_Mutation_p.G516V|PARD3_ENST00000350537.4_Missense_Mutation_p.G516V|PARD3_ENST00000374790.3_Missense_Mutation_p.G472V|PARD3_ENST00000545693.1_Missense_Mutation_p.G516V|PARD3_ENST00000374773.1_Missense_Mutation_p.G516V|PARD3_ENST00000374788.3_Missense_Mutation_p.G516V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	516	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G516V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TAAATCTACTCCATTTACCTA	0.443000													21	50					1.50039e-11	1.88888e-11	0.608945	1	0
DYTN	391475	broad.mit.edu	37	2	207569584	207569584	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:207569584G>C	ENST00000452335.2	-	5	582	c.466C>G	c.(466-468)Cta>Gta	p.L156V	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	156						plasma membrane	zinc ion binding	p.L156V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGATCTGTTAGTAGTTTTCTC	0.383000													6	8					0	0	0.307466	0	0
MUC2	4583	broad.mit.edu	37	11	1104063	1104063	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:1104063G>T	ENST00000441003.2	+	49	8281	c.8254G>T	c.(8254-8256)Gcc>Tcc	p.A2752S		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5114						inner mucus layer|outer mucus layer	protein binding	p.A2752S(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGGCCCAGGCCCTGGACCA	0.682000													5	14					5.18039e-06	5.8202e-06	0.278610	1	0
BRCA1	672	broad.mit.edu	37	17	41256153	41256153	+	Missense_Mutation	SNP	C	C	G	rs80356991		TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:41256153C>G	ENST00000357654.3	-	6	545	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	BRCA1_ENST00000471181.2_Missense_Mutation_p.E143Q|BRCA1_ENST00000493795.1_Missense_Mutation_p.E96Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E143Q|BRCA1_ENST00000468300.1_Missense_Mutation_p.E143Q|BRCA1_ENST00000352993.3_Missense_Mutation_p.E143Q|BRCA1_ENST00000351666.3_Missense_Mutation_p.E143Q|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.E143Q|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E143Q	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	143					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.E143Q(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAAGGATTTTCGGGTTCACTC	0.348000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			15	174					0	0	0.575678	0	0
CDH16	1014	broad.mit.edu	37	16	66949248	66949248	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:66949248C>T	ENST00000299752.4	-	6	651	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	CDH16_ENST00000568632.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.R153Q|CDH16_ENST00000565796.1_Missense_Mutation_p.R153Q|CDH16_ENST00000570262.1_Missense_Mutation_p.R73Q	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	153	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R153Q(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGCTCATCCCGGTCTGAAGC	0.607000													16	10					0	0	0.479597	0	0
COL12A1	1303	broad.mit.edu	37	6	75836119	75836119	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:75836119C>A	ENST00000322507.8	-	39	6717	c.6408G>T	c.(6406-6408)tgG>tgT	p.W2136C	COL12A1_ENST00000345356.6_Missense_Mutation_p.W972C|COL12A1_ENST00000483888.2_Missense_Mutation_p.W2136C|COL12A1_ENST00000416123.2_Missense_Mutation_p.W2136C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2136	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.W2136C(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGAAGGATCCCAGGACACCC	0.418000													13	36					1.5842e-08	1.90916e-08	0.435327	1	0
NLRP7	199713	broad.mit.edu	37	19	55452944	55452944	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:55452944C>T	ENST00000588756.1	-	4	622	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	NLRP7_ENST00000592784.1_Missense_Mutation_p.V46M|NLRP7_ENST00000590030.1_Missense_Mutation_p.V46M|NLRP7_ENST00000340844.2_Missense_Mutation_p.V46M|NLRP7_ENST00000448121.2_Missense_Mutation_p.V46M|NLRP7_ENST00000446217.1_Missense_Mutation_p.V74M|NLRP7_ENST00000328092.5_Missense_Mutation_p.V46M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	46	DAPIN.						ATP binding	p.V46M(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCTCTTCCACCTCAGACCAT	0.463000													12	43					0	0	0.411799	0	0
HAO2	51179	broad.mit.edu	37	1	119929411	119929411	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:119929411T>C	ENST00000361035.4	+	6	1050	c.767T>C	c.(766-768)gTt>gCt	p.V256A	HAO2_ENST00000325945.3_Missense_Mutation_p.V243A	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	243	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.V243A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GGTATCATTGTTTCCAACCAT	0.453000													10	41					0	0	0.411799	0	0
COPB1	1315	broad.mit.edu	37	11	14512211	14512211	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:14512211A>G	ENST00000249923.3	-	5	806	c.506T>C	c.(505-507)cTt>cCt	p.L169P	COPB1_ENST00000439561.2_Missense_Mutation_p.L169P	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	169					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.L169P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ATCAGGTATAAGATGTTCAAA	0.308000													5	12					0	0	0.184627	0	0
RBM46	166863	broad.mit.edu	37	4	155720435	155720435	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:155720435C>T	ENST00000510397.1	+	4	1300	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	RBM46_ENST00000281722.3_Missense_Mutation_p.P374L|RBM46_ENST00000514866.1_Missense_Mutation_p.P374L	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	374							nucleotide binding|RNA binding	p.P374L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CCTTTTTATCCTGGAACAAAG	0.388000													25	89					0	0	0.740014	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908958	158908958	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:158908958C>A	ENST00000368140.1	+	4	745	c.500C>A	c.(499-501)gCc>gAc	p.A167D	PYHIN1_ENST00000368138.3_Missense_Mutation_p.A158D|PYHIN1_ENST00000392252.3_Missense_Mutation_p.A158D|PYHIN1_ENST00000368135.4_Missense_Mutation_p.A167D|PYHIN1_ENST00000392254.2_Missense_Mutation_p.A167D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	167					cell cycle	nuclear speck		p.A167D(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCTGCAGGAGCCAGCACGTCC	0.522000													9	125					0.000274275	0.000296343	0.307466	1	0
LRRC16B	90668	broad.mit.edu	37	14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787								p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612000													3	37					0	0	0.115264	0	0
OR5D14	219436	broad.mit.edu	37	11	55563785	55563785	+	Missense_Mutation	SNP	A	A	T	rs149902192		TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:55563785A>T	ENST00000335605.1	+	1	754	c.754A>T	c.(754-756)Atc>Ttc	p.I252F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I252F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTATCACCATCTTCCATGG	0.458000													9	51					0	0	0.361761	0	0
NCAPD3	23310	broad.mit.edu	37	11	134054882	134054882	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:134054882T>G	ENST00000534548.2	-	18	2315	c.2251A>C	c.(2251-2253)Aat>Cat	p.N751H	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	751					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.N751H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GTGTTTGAATTGGGATTCTGC	0.453000													7	155					0	0	0.278610	0	0
FAM3C	10447	broad.mit.edu	37	7	121000097	121000097	+	Splice_Site	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:121000097T>A	ENST00000359943.3	-	8	680	c.467_splice	c.e8+1	p.K156_splice		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	156					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	p.K156I(1)		kidney(1)|lung(8)	9	all_neural(327;0.117)					GTTTACATACTTGGTTGCTCC	0.299000													15	28					0	0	0.500413	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	4					0	0	0.115264	0	0
BAGE2	85319	broad.mit.edu	37	21	11058219	11058219	+	RNA	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr21:11058219C>A	ENST00000470054.1	-	0	428									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GACTGAAATCCTGAAAGGTGT	0.418000													5	45					3.59834e-05	3.94837e-05	0.217242	1	0
PHACTR4	65979	broad.mit.edu	37	1	28815703	28815703	+	Silent	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:28815703A>G	ENST00000373839.3	+	10	2043	c.1782A>G	c.(1780-1782)acA>acG	p.T594T	PHACTR4_ENST00000373836.3_Silent_p.T604T|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	594							actin binding|protein phosphatase inhibitor activity	p.T604T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGACCAACACCAGAAGAAC	0.308000													13	15					0	0	0.457914	0	0
UBR2	23304	broad.mit.edu	37	6	42604830	42604830	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:42604830C>T	ENST00000372899.1	+	15	2014	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	UBR2_ENST00000372883.3_Missense_Mutation_p.P90S|UBR2_ENST00000372901.1_Missense_Mutation_p.P586S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	586					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.P586S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGTGAACAGCCAATCACACT	0.403000													18	29					0	0	0.539581	0	0
MST1L	11223	broad.mit.edu	37	1	17084116	17084116	+	RNA	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:17084116A>T	ENST00000455405.2	-	0	596																		p.L602Q(1)									GATGACGTTCAGCAAGGCCAC	0.587000													5	183					0	0	0.184627	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134459980	134459980	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr9:134459980G>A	ENST00000372195.1	-	20	2973	c.2730C>T	c.(2728-2730)gtC>gtT	p.V910V	RAPGEF1_ENST00000372189.3_Silent_p.V893V|RAPGEF1_ENST00000372190.3_Silent_p.V911V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	893	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	p.V911V(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTATGGACCGGACCCTGCATG	0.542000													21	19					0	0	0.624587	0	0
COQ6	51004	broad.mit.edu	37	14	74428033	74428033	+	Nonsense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:74428033T>A	ENST00000334571.2	+	9	1089	c.1049T>A	c.(1048-1050)tTg>tAg	p.L350*	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000557780.1_3'UTR|COQ6_ENST00000238709.4_Nonsense_Mutation_p.L275*|COQ6_ENST00000394026.4_Nonsense_Mutation_p.L325*	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	350					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.L350*(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CCTCTTGGGTTGGGACATGCT	0.592000													16	25					0	0	0.520397	0	0
TTN	7273	broad.mit.edu	37	2	179585221	179585221	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:179585221A>T	ENST00000589042.1	-	80	23492	c.23268T>A	c.(23266-23268)gaT>gaA	p.D7756E	TTN_ENST00000591111.1_Missense_Mutation_p.D7439E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D6512E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7439	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D6512E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGACTTGTATCAAAATGTT	0.398000													8	35					0	0	0.278610	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128797440	128797440	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:128797440G>T	ENST00000274487.4	+	2	864	c.719G>T	c.(718-720)gGa>gTa	p.G240V		NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	240					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G240V(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCACCTGTGGAGGTGGCCTG	0.622000													13	73					4.36969e-10	5.40462e-10	0.435327	1	0
SCN1A	6323	broad.mit.edu	37	2	166848264	166848264	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:166848264G>T	ENST00000423058.2	-	26	5538	c.5521C>A	c.(5521-5523)Ctg>Atg	p.L1841M	SCN1A_ENST00000409050.1_Missense_Mutation_p.L1813M|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1841M|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1830M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1841						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1841M(1)|p.L1830M(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTGTGGCAGATTGAGAGGC	0.448000													39	58					4.01765e-15	5.1499e-15	0.847076	1	0
MYO7A	4647	broad.mit.edu	37	11	76924924	76924924	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:76924924C>T	ENST00000409709.3	+	48	6730	c.6458C>T	c.(6457-6459)cCc>cTc	p.P2153L	MYO7A_ENST00000458637.2_Missense_Mutation_p.P2113L|MYO7A_ENST00000409619.2_Missense_Mutation_p.P2104L|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2153	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.P2153L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCACTCATCCCTTCACCAAG	0.592000													30	62					0	0	0.740014	0	0
KANK3	256949	broad.mit.edu	37	19	8389370	8389370	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:8389370A>T	ENST00000330915.3	-	10	2410	c.2345T>A	c.(2344-2346)cTa>cAa	p.L782Q	KANK3_ENST00000593649.1_Missense_Mutation_p.L782Q	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	782								p.L782Q(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GTGGGCATGTAGCAGAGCGGC	0.592000													6	6					0	0	0.217242	0	0
INTS4P2	644619	broad.mit.edu	37	7	65154392	65154392	+	RNA	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:65154392C>A	ENST00000430126.2	+	0	876																											ACCAAGTACCCTACTGATAGG	0.408000													7	15					8.12818e-05	8.84999e-05	0.248553	1	0
TRIM49C	642612	broad.mit.edu	37	11	89774426	89774426	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:89774426G>C	ENST00000448984.1	+	8	1396	c.1067G>C	c.(1066-1068)gGt>gCt	p.G356A	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	356	B30.2/SPRY.					intracellular	zinc ion binding	p.G356A(2)		endometrium(3)|kidney(1)|lung(4)	8						TGGGCTTTTGGTGTCTGTAAT	0.438000													14	41					0	0	0.500413	0	0
C6orf118	168090	broad.mit.edu	37	6	165715261	165715261	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:165715261C>T	ENST00000543069.1	-	2	819	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	C6orf118_ENST00000230301.8_Missense_Mutation_p.V184M			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	184								p.V184M(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TAGCACAGCACCTTCAAGTCG	0.642000													13	53					0	0	0.435327	0	0
NAGS	162417	broad.mit.edu	37	17	42083115	42083115	+	Silent	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:42083115C>T	ENST00000293404.3	+	2	655	c.537C>T	c.(535-537)gcC>gcT	p.A179A		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	179					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	p.A179A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GGCTGCCGGCCCCTACGGCTC	0.657000													4	7					0	0	0.150653	0	0
SEMA5A	9037	broad.mit.edu	37	5	9379955	9379955	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:9379955T>C	ENST00000382496.5	-	3	769	c.104A>G	c.(103-105)cAt>cGt	p.H35R	CTD-2201E9.4_ENST00000511310.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	35	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.H35R(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GATGACTGGATGCTCGGTTCT	0.502000													53	161					0	0	0.870114	0	0
DMBT1	1755	broad.mit.edu	37	10	124335998	124335998	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:124335998T>G	ENST00000338354.3	+	7	473	c.367T>G	c.(367-369)Tgg>Ggg	p.W123G	DMBT1_ENST00000368955.3_Missense_Mutation_p.W123G|DMBT1_ENST00000359586.6_Missense_Mutation_p.W123G|DMBT1_ENST00000368956.2_Missense_Mutation_p.W123G|DMBT1_ENST00000344338.3_Missense_Mutation_p.W123G|DMBT1_ENST00000330163.4_Missense_Mutation_p.W123G|DMBT1_ENST00000368909.3_Missense_Mutation_p.W123G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	123	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.W123G(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGAGGCTCCTGGGGCACCGT	0.582000													54	137					0	0	0.870114	0	0
FOXI1	2299	broad.mit.edu	37	5	169533408	169533408	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:169533408C>G	ENST00000449804.2	+	1	492	c.447C>G	c.(445-447)atC>atG	p.I149M	FOXI1_ENST00000306268.6_Missense_Mutation_p.I149M	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	149					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.I149M(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAGCCAGATCTACCAGTACG	0.592000									Pendred syndrome				11	13					0	0	0.387290	0	0
PID1	55022	broad.mit.edu	37	2	229890361	229890361	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:229890361G>A	ENST00000392054.3	-	4	1073	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PID1_ENST00000392055.3_Missense_Mutation_p.S214F|PID1_ENST00000354069.6_Missense_Mutation_p.S247F|PID1_ENST00000409462.1_Missense_Mutation_p.S165F|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	247	PID.					cytoplasm		p.S245F(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCCATCATCGGATTCCAATTC	0.498000													14	62					0	0	0.457914	0	0
SATB2	23314	broad.mit.edu	37	2	200213524	200213524	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:200213524A>G	ENST00000443023.1	-	6	2361	c.896T>C	c.(895-897)gTg>gCg	p.V299A	SATB2_ENST00000260926.5_Missense_Mutation_p.V358A|SATB2_ENST00000457245.1_Missense_Mutation_p.V358A|SATB2_ENST00000428695.1_Missense_Mutation_p.V240A|SATB2_ENST00000417098.1_Missense_Mutation_p.V358A			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	358						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.V358A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAGACTTCCACGGAAGAGTT	0.547000													37	52					0	0	0.788014	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574588	60574588	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:60574588G>A	ENST00000406854.1	+	2	786	c.232G>A	c.(232-234)Gga>Aga	p.G78R	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.G78R|PCNXL4_ENST00000391611.2_Missense_Mutation_p.G78R					pecanex-like 4 (Drosophila)									p.G78R(1)									ACTTTCAGGTGGATTAATGCT	0.373000													14	22					0	0	0.435327	0	0
BTBD17	388419	broad.mit.edu	37	17	72356359	72356359	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:72356359C>A	ENST00000375366.3	-	2	237	c.111G>T	c.(109-111)gaG>gaT	p.E37D		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	37						extracellular region		p.E37D(1)		endometrium(1)|kidney(1)|lung(4)	6						TGCCAGCTGCCTCCCCGCCAA	0.657000													4	20					0.00909568	0.00949993	0.150653	1	0
FAT4	79633	broad.mit.edu	37	4	126370481	126370481	+	Silent	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:126370481C>T	ENST00000394329.3	+	9	8323	c.8310C>T	c.(8308-8310)gcC>gcT	p.A2770A	FAT4_ENST00000335110.5_Silent_p.A1068A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2770	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A2770A(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGATAATGCCCCTAGGTTTT	0.393000													15	190					0	0	0.479597	0	0
HKR1	284459	broad.mit.edu	37	19	37838716	37838716	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:37838716G>A	ENST00000324411.4	+	5	524	c.255G>A	c.(253-255)ctG>ctA	p.L85L	HKR1_ENST00000586897.1_Silent_p.L24L|HKR1_ENST00000589392.1_Silent_p.L66L|HKR1_ENST00000591259.1_Silent_p.L66L|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000591417.1_Silent_p.L24L|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000541583.2_Silent_p.L24L|HKR1_ENST00000591134.1_Silent_p.L24L|HKR1_ENST00000392153.3_Silent_p.L66L|HKR1_ENST00000592168.1_Silent_p.L24L	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	85	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L85L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGCTCAGCTGGAGCGAGGGG	0.488000													14	10					0	0	0.435327	0	0
TRIML2	205860	broad.mit.edu	37	4	189020308	189020308	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:189020308C>G	ENST00000512729.1	-	4	726	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	TRIML2_ENST00000326754.3_Missense_Mutation_p.E118Q|TRIML2_ENST00000536972.1_Missense_Mutation_p.E168Q	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	118							ligase activity	p.E118Q(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCCATGTTCTCTCTCCCCACA	0.483000													5	61					0	0	0.217242	0	0
CAMTA1	23261	broad.mit.edu	37	1	7737753	7737753	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:7737753C>A	ENST00000303635.7	+	11	3081	c.2874C>A	c.(2872-2874)ccC>ccA	p.P958P	CAMTA1_ENST00000439411.2_Silent_p.P958P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	958					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.P958P(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGCTCTGCCCACGCTCCCTT	0.567000			T	WWTR1	epitheliod hemangioendothelioma								9	64					1.76689e-08	2.12027e-08	0.335167	1	0
SBNO1	55206	broad.mit.edu	37	12	123801854	123801854	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr12:123801854G>C	ENST00000420886.2	-	20	2848	c.2849C>G	c.(2848-2850)gCa>gGa	p.A950G	SBNO1_ENST00000602750.1_Missense_Mutation_p.A949G|SBNO1_ENST00000602398.1_Missense_Mutation_p.A950G|SBNO1_ENST00000267176.4_Missense_Mutation_p.A949G	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	950							ATP binding|DNA binding|hydrolase activity	p.A949G(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCTCCTATCTGCTTGTAATGA	0.378000													8	28					0	0	0.278610	0	0
PSG9	5678	broad.mit.edu	37	19	43762450	43762450	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:43762450G>C	ENST00000244293.7	-	4	934	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	PSG9_ENST00000270077.3_Missense_Mutation_p.Q383E|PSG9_ENST00000596730.1_Missense_Mutation_p.Q197E|PSG9_ENST00000593948.1_Missense_Mutation_p.Q290E|PSG9_ENST00000443718.3_Missense_Mutation_p.Q290E|PSG9_ENST00000418820.2_Missense_Mutation_p.Q290E|PSG9_ENST00000291752.5_Missense_Mutation_p.Q197E			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	299	Ig-like C2-type 2.				female pregnancy	extracellular region		p.Q383E(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTAGTAATTTGGGGGATAAAG	0.443000													25	137					0	0	0.681144	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37298895	37298895	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:37298895G>T	ENST00000373491.3	+	13	1611	c.1465G>T	c.(1465-1467)Gca>Tca	p.A489S		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	489						intracellular	Rab GTPase activator activity	p.A489S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TCTCGCCGAGGCATACAGACT	0.522000													5	66					0.00116845	0.00123873	0.217242	1	0
CAMK2A	815	broad.mit.edu	37	5	149633053	149633053	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:149633053G>A	ENST00000348628.6	-	7	1133	c.468C>T	c.(466-468)gaC>gaT	p.D156D	CAMK2A_ENST00000398376.3_Silent_p.D156D	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	156	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.D156D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGCCAAAGTCTGCCAGCT	0.592000													3	64					0	0	0.184627	0	0
ZNF791	163049	broad.mit.edu	37	19	12739912	12739912	+	Silent	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:12739912C>G	ENST00000343325.4	+	4	1731	c.1569C>G	c.(1567-1569)ccC>ccG	p.P523P	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Silent_p.P414P|ZNF791_ENST00000458122.3_Silent_p.P491P|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P523P(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAGAGAAACCCTATAAATGTA	0.388000													33	33					0	0	0.769981	0	0
FN1	2335	broad.mit.edu	37	2	216262478	216262478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:216262478C>A	ENST00000354785.4	-	22	3811	c.3442G>T	c.(3442-3444)Gaa>Taa	p.E1148*	FN1_ENST00000323926.6_Nonsense_Mutation_p.E1148*|FN1_ENST00000446046.1_Nonsense_Mutation_p.E1148*|FN1_ENST00000443816.1_Nonsense_Mutation_p.E1148*|FN1_ENST00000432072.2_Nonsense_Mutation_p.E1148*|FN1_ENST00000421182.1_Nonsense_Mutation_p.E1148*|FN1_ENST00000359671.1_Nonsense_Mutation_p.E1148*|FN1_ENST00000357867.4_Nonsense_Mutation_p.E1148*|FN1_ENST00000357009.2_Nonsense_Mutation_p.E1148*|FN1_ENST00000356005.4_Nonsense_Mutation_p.E1148*|FN1_ENST00000346544.3_Nonsense_Mutation_p.E1148*|FN1_ENST00000345488.5_Nonsense_Mutation_p.E1148*|FN1_ENST00000336916.4_Nonsense_Mutation_p.E1148*			P02751	FINC_HUMAN	fibronectin 1	1148	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.E1148*(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGACGTATTCTACTCCTGGA	0.493000													6	56					2.7689e-08	3.29464e-08	0.248553	1	0
TMEM176B	28959	broad.mit.edu	37	7	150491059	150491059	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:150491059G>A	ENST00000447204.2	-	3	677	c.305C>T	c.(304-306)gCg>gTg	p.A102V	TMEM176B_ENST00000492607.1_Missense_Mutation_p.A102V|TMEM176B_ENST00000429904.2_Missense_Mutation_p.A102V|TMEM176B_ENST00000434545.1_Missense_Mutation_p.A102V|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000326442.5_Missense_Mutation_p.A102V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	102					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.A102V(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGACCCCGCCCAGAAGGC	0.577000													18	78					0	0	0.557998	0	0
ZEB2	9839	broad.mit.edu	37	2	145156993	145156993	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:145156993T>A	ENST00000558170.2	-	8	2945	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	ZEB2_ENST00000409487.3_Missense_Mutation_p.K587N|ZEB2_ENST00000303660.4_Missense_Mutation_p.K587N|ZEB2_ENST00000539609.3_Missense_Mutation_p.K563N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	587						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.K587N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAAAACTTTCTTTACAGAACT	0.403000													32	54					0	0	0.750413	0	0
OR4A15	81328	broad.mit.edu	37	11	55135509	55135509	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:55135509G>A	ENST00000314706.3	+	1	150	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E50E(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGAACCCTGAGGGGCAAAAGG	0.448000													22	31					0	0	0.624587	0	0
SQLE	6713	broad.mit.edu	37	8	126011698	126011698	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr8:126011698G>T	ENST00000265896.5	+	1	951	c.53G>T	c.(52-54)gGg>gTg	p.G18V	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	18					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	p.G18V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AAGAAGTTCGGGGACTTCATC	0.547000													3	25					0.115264	0.117345	0.115264	1	0
HCN3	57657	broad.mit.edu	37	1	155255611	155255611	+	Missense_Mutation	SNP	C	C	T	rs146290600	byFrequency	TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:155255611C>T	ENST00000368358.3	+	6	1341	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	445						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R445C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCAAGCTGCGCTTTGAGGT	0.617000													14	135					0	0	0.457914	0	0
SMYD1	150572	broad.mit.edu	37	2	88407960	88407960	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:88407960G>A	ENST00000419482.2	+	9	1301	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	SMYD1_ENST00000444564.2_Missense_Mutation_p.A393T|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A406T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAACTGGCATGCTGGTAACAT	0.557000													7	44					0	0	0.278610	0	0
MB21D2	151963	broad.mit.edu	37	3	192635485	192635485	+	Silent	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:192635485G>T	ENST00000392452.2	-	1	465	c.145C>A	c.(145-147)Cgg>Agg	p.R49R		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	49								p.R47R(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TCGTATTCCCGCTGGTCGTGC	0.527000													6	37					0.00116845	0.00123873	0.217242	1	0
IRF6	3664	broad.mit.edu	37	1	209961969	209961969	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:209961969C>A	ENST00000367021.3	-	9	1372	c.1200G>T	c.(1198-1200)cgG>cgT	p.R400R	IRF6_ENST00000542854.1_Silent_p.R305R	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	400			R -> W (in VWS; dbSNP:rs28942095).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R400R(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CGTAGATCATCCGAGCCACTA	0.453000										HNSCC(57;0.16)			9	5					3.09899e-07	3.58161e-07	0.307466	1	0
F7	2155	broad.mit.edu	37	13	113773001	113773001	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr13:113773001C>A	ENST00000375581.3	+	9	1115	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	F7_ENST00000346342.3_Silent_p.L338L|F7_ENST00000541084.1_Silent_p.L291L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	360	Peptidase S1.		L -> P (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	p.L360L(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TCATGGTCCTCAACGTGCCCC	0.637000													10	14					4.68919e-08	5.5561e-08	0.361761	1	0
HDX	139324	broad.mit.edu	37	X	83724072	83724072	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chrX:83724072C>A	ENST00000297977.5	-	3	770	c.659G>T	c.(658-660)tGt>tTt	p.C220F	HDX_ENST00000373177.2_Missense_Mutation_p.C220F|HDX_ENST00000506585.2_Missense_Mutation_p.C162F	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C220F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCAATTTTACAAGGTCGGTG	0.413000													66	27					6.1719e-39	8.2487e-39	0.870114	1	0
SAMD9	54809	broad.mit.edu	37	7	92735313	92735313	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:92735313C>A	ENST00000379958.2	-	3	367	c.98G>T	c.(97-99)aGg>aTg	p.R33M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	33	SAM.					cytoplasm		p.R33M(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAATTTCCCTGTGTTTTTG	0.373000													31	76					1.36615e-20	1.77536e-20	0.769981	1	0
GALNT10	55568	broad.mit.edu	37	5	153792479	153792479	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:153792479G>C	ENST00000297107.6	+	10	1554	c.1417G>C	c.(1417-1419)Gac>Cac	p.D473H	GALNT10_ENST00000377661.2_Missense_Mutation_p.D411H|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.D146H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	473	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D473H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCTGTGTGCAGACACAAAGCA	0.632000													6	57					0	0	0.248553	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668496	180668496	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:180668496A>G	ENST00000512805.1	-	3	833	c.425T>C	c.(424-426)gTc>gCc	p.V142A	GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.V142A|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000456394.2_Missense_Mutation_p.V142A|GNB2L1_ENST00000376817.4_Missense_Mutation_p.V98A|GNB2L1_ENST00000511900.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	142					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	p.V142A(1)		lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CTTTACCTGGACAGTGTATTT	0.463000													26	42					0	0	0.717897	0	0
LYST	1130	broad.mit.edu	37	1	235969480	235969480	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:235969480C>T	ENST00000389794.3	-	6	3130	c.2956G>A	c.(2956-2958)Ggt>Agt	p.G986S	LYST_ENST00000389793.2_Missense_Mutation_p.G986S|LYST_ENST00000536965.1_Missense_Mutation_p.G986S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	986					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.G986S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTCGGAAACCACCAAGCCTA	0.388000													6	46					0	0	0.248553	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602290	234602290	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:234602290G>C	ENST00000305139.6	+	1	779	c.640G>C	c.(640-642)Gtt>Ctt	p.V214L	UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2												p.V214L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CAACTTCCTTGTTAATTTGTT	0.418000													21	105					0	0	0.575678	0	0
CCT3	7203	broad.mit.edu	37	1	156290753	156290753	+	Silent	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:156290753G>C	ENST00000295688.3	-	7	766	c.486C>G	c.(484-486)acC>acG	p.T162T	CCT3_ENST00000368259.2_Silent_p.T124T|CCT3_ENST00000368261.3_Silent_p.T117T|CCT3_ENST00000472765.2_Silent_p.T117T	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	162					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	p.T162T(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TGATGGCTTTGGTAGTAATAG	0.438000													43	124					0	0	0.853193	0	0
CPNE5	57699	broad.mit.edu	37	6	36730750	36730750	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:36730750A>G	ENST00000244751.2	-	12	1423	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	267	C2 2.							p.F267L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGTGGTGAACTCCCCAATG	0.592000													4	38					0	0	0.150653	0	0
DCDC1	341019	broad.mit.edu	37	11	30930585	30930585	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:30930585G>T	ENST00000597505.1	-	27	3825	c.3826C>A	c.(3826-3828)Cat>Aat	p.H1276N	DCDC1_ENST00000339794.5_Missense_Mutation_p.H355N|DCDC1_ENST00000406071.2_Missense_Mutation_p.H11N			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.H355N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCAGTGCTATGAAAGGCCACA	0.363000													12	38					0.000978159	0.00104882	0.387290	1	0
LMTK3	114783	broad.mit.edu	37	19	49004582	49004582	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:49004582C>T	ENST00000600059.1	-	9	1186	c.959G>A	c.(958-960)gGg>gAg	p.G320E	LMTK3_ENST00000270238.3_Missense_Mutation_p.G349E					lemur tyrosine kinase 3									p.G349E(1)|p.G335E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CATGAAGGTCCCGTGGAGCTC	0.677000													34	37					0	0	0.796494	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822027	93822027	+	Nonsense_Mutation	SNP	C	C	A	rs113614754	by1000genomes	TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:93822027C>A	ENST00000315765.9	+	12	2195	c.2187C>A	c.(2185-2187)taC>taA	p.Y729*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	729					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.Y733*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCAGCGGTACGGGATGATAA	0.512000													6	33					0.00307968	0.00324056	0.278610	1	0
MYO10	4651	broad.mit.edu	37	5	16694657	16694657	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:16694657C>A	ENST00000513610.1	-	27	4077	c.3623G>T	c.(3622-3624)cGc>cTc	p.R1208L	MYO10_ENST00000274203.9_Missense_Mutation_p.R565L|MYO10_ENST00000427430.2_Missense_Mutation_p.R565L|MYO10_ENST00000505695.1_Missense_Mutation_p.R547L|MYO10_ENST00000515803.1_Missense_Mutation_p.R547L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1208					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.R1208L(2)|p.R1208F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGCTTGGAGCGGAACCACAA	0.572000													14	85					2.23348e-06	2.52949e-06	0.500413	1	0
TTBK1	84630	broad.mit.edu	37	6	43251531	43251531	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:43251531C>T	ENST00000259750.4	+	14	3136	c.3053C>T	c.(3052-3054)cCg>cTg	p.P1018L		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1018						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.P1018L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAATGGCCCGGCCCTTGCA	0.667000													9	47					0	0	0.361761	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432448	140432448	+	Missense_Mutation	SNP	A	A	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:140432448A>C	ENST00000306549.3	+	1	1470	c.1393A>C	c.(1393-1395)Aac>Cac	p.N465H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		465	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N465H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGAAAACAACAGTCCTGC	0.418000													31	37					0	0	0.740014	0	0
NSD1	64324	broad.mit.edu	37	5	176637505	176637505	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:176637505C>A	ENST00000439151.2	+	5	2150	c.2105C>A	c.(2104-2106)cCt>cAt	p.P702H	NSD1_ENST00000347982.4_Missense_Mutation_p.P433H|NSD1_ENST00000361032.4_Missense_Mutation_p.P599H|NSD1_ENST00000354179.4_Missense_Mutation_p.P433H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	702					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.P702H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAACAGAAGCCTCTCATTAGT	0.403000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	25					8.10497e-08	9.56319e-08	0.592651	1	0
ZNF16	7564	broad.mit.edu	37	8	146156498	146156498	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr8:146156498T>C	ENST00000276816.4	-	4	1861	c.1675A>G	c.(1675-1677)Acc>Gcc	p.T559A	ZNF16_ENST00000394909.2_Missense_Mutation_p.T559A	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T559A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAATGAGGGTTGAGCTCTGG	0.488000													31	22					0	0	0.729181	0	0
FSCB	84075	broad.mit.edu	37	14	44975731	44975731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:44975731C>A	ENST00000340446.4	-	1	751	c.460G>T	c.(460-462)Gaa>Taa	p.E154*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	154						cilium		p.K153_E154>N*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTCTGTTGTTCCTTGTCCACT	0.418000													50	140					6.4308e-24	8.43482e-24	0.870114	1	0
LRP1B	53353	broad.mit.edu	37	2	141812775	141812775	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:141812775G>A	ENST00000389484.3	-	10	2433	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	488					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.H488Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGACAGATGTGTGAACAGCCC	0.443000										TSP Lung(27;0.18)			3	45					0	0	0.115264	0	0
CBFA2T3	863	broad.mit.edu	37	16	88945809	88945809	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:88945809C>T	ENST00000268679.4	-	11	1927	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.D435N|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.D425N|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.D473N|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.D425N	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	511					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D511N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGCTCCGCGTCCGACACGGCT	0.667000			T	RUNX1	AML								10	60					0	0	0.361761	0	0
KRT15	3866	broad.mit.edu	37	17	39673396	39673396	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:39673396T>G	ENST00000254043.3	-	2	4105	c.520A>C	c.(520-522)Aac>Cac	p.N174H	KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393976.2_Missense_Mutation_p.N174H|KRT15_ENST00000393981.3_Intron	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	174	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.N174H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACCCGGGAGTTGTCGATGGTG	0.617000													23	89					0	0	0.693898	0	0
CCL18	6362	broad.mit.edu	37	17	34391745	34391745	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:34391745A>G	ENST00000004921.3	+	1	106	c.43A>G	c.(43-45)Atg>Gtg	p.M15V		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	15					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity	p.M15V(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGTCTGCACCATGGCCCTCTG	0.577000													42	99					0	0	0.870114	0	0
LAMC1	3915	broad.mit.edu	37	1	183102584	183102584	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:183102584G>A	ENST00000258341.4	+	22	4005	c.3748G>A	c.(3748-3750)Gct>Act	p.A1250T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1250	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.A1250T(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAAAACAAGCTGCCCGAGT	0.468000													5	125					0	0	0.217242	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711090	58711090	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:58711090G>A	ENST00000300079.5	+	2	149	c.99G>A	c.(97-99)ctG>ctA	p.L33L	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity	p.L33L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	gaaggtacctgcaggatccaa	0.468000													14	14					0	0	0.520397	0	0
TMX4	56255	broad.mit.edu	37	20	7963206	7963206	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:7963206T>G	ENST00000246024.2	-	8	957	c.742A>C	c.(742-744)Aaa>Caa	p.K248Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	248	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane		p.K248Q(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						gaatcatctttttcctcctcC	0.433000													11	18					0	0	0.361761	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510616	26510616	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:26510616G>A	ENST00000531191.1	+	9	1143	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	CNKSR1_ENST00000374253.5_Missense_Mutation_p.A311T|CNKSR1_ENST00000361530.6_Missense_Mutation_p.A304T			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	311	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.A304T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTCTCTGGCCCCACTGTC	0.622000													54	33					0	0	0.870114	0	0
PPP1R8	5511	broad.mit.edu	37	1	28167669	28167669	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:28167669G>A	ENST00000311772.5	+	4	474	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	139	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	p.G139E(1)		breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGAAAGGAGATGAGAAG	0.502000													14	81					0	0	0.500413	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232534998	232534998	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:232534998G>T	ENST00000366630.1	-	22	5402	c.5044C>A	c.(5044-5046)Ctc>Atc	p.L1682I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1682I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L738I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1682					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.L1682I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCTGCTTGGAGAACGGCCTTG	0.488000													10	30					3.86212e-05	4.22139e-05	0.361761	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209218638	209218638	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:209218638G>T	ENST00000264380.4	+	40	6019	c.5861G>T	c.(5860-5862)gGc>gTc	p.G1954V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1954	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.G1954V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTTGAAGGGCTCTCTTAGG	0.358000													23	35					0.00047179	0.000507804	0.654019	1	0
CHD6	84181	broad.mit.edu	37	20	40126136	40126136	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:40126136T>G	ENST00000373233.3	-	8	1157	c.980A>C	c.(979-981)tAc>tCc	p.Y327S	CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Missense_Mutation_p.Y327S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	327	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Y327S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACAATGTAAGTAGGAACTATC	0.423000													28	52					0	0	0.717897	0	0
PIK3CB	5291	broad.mit.edu	37	3	138478038	138478038	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:138478038C>G	ENST00000477593.1	-	2	221	c.148G>C	c.(148-150)Gct>Cct	p.A50P	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A50P			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	50	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A50P(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GAAATGGTAGCTTCCCGAGGT	0.398000													4	34					0	0	0.248553	0	0
MFSD11	79157	broad.mit.edu	37	17	74734527	74734527	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:74734527G>A	ENST00000588460.1	+	1	2135	c.93G>A	c.(91-93)gtG>gtA	p.V31V	RP11-318A15.7_ENST00000587459.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.V31V|MFSD11_ENST00000336509.4_Silent_p.V31V|MFSD11_ENST00000593181.1_Silent_p.V31V|MFSD11_ENST00000590514.1_Silent_p.V31V|MFSD11_ENST00000590393.1_Silent_p.V31V|MFSD11_ENST00000591864.1_Silent_p.V31V|MFSD11_ENST00000355954.3_Silent_p.V31V	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	31						integral to membrane		p.V31V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GTGGAAATGTGGCGGTGAGTT	0.388000													13	29					0	0	0.411799	0	0
LATS1	9113	broad.mit.edu	37	6	150004968	150004968	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:150004968C>T	ENST00000543571.1	-	4	1804	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	LATS1_ENST00000392273.3_Missense_Mutation_p.M419I|LATS1_ENST00000253339.5_Missense_Mutation_p.M419I|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	419					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.M419I(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TATATAGTTCCATGTTATGAC	0.448000													7	143					0	0	0.307466	0	0
NR1D1	9572	broad.mit.edu	37	17	38253497	38253497	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:38253497G>A	ENST00000246672.3	-	2	821	c.191C>T	c.(190-192)cCg>cTg	p.P64L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	64					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.P64L(1)		endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGAGCGAGCCGGGTCTTGGGT	0.582000													21	35					0	0	0.654019	0	0
BRWD3	254065	broad.mit.edu	37	X	80001218	80001218	+	Silent	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chrX:80001218G>T	ENST00000373275.4	-	7	657	c.441C>A	c.(439-441)acC>acA	p.T147T		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	147								p.T147T(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCCTGGCAGAGGTGATATTCA	0.348000													4	9					0.150653	0.152821	0.150653	1	0
TFAP2C	7022	broad.mit.edu	37	20	55204644	55204644	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:55204644G>C	ENST00000201031.2	+	1	287	c.44G>C	c.(43-45)tGc>tCc	p.C15S		NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	15					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.C15S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAAGAGGACTGCGAGGTGAGC	0.652000													3	24					0	0	0.115264	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249162	90249162	+	RNA	SNP	A	A	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:90249162A>T	ENST00000468879.1	+	0	299																											TGTAGGAGACAGAGTCACCAT	0.463000													17	93					0	0	0.557998	0	0
KLHL15	80311	broad.mit.edu	37	X	24006107	24006107	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chrX:24006107C>A	ENST00000328046.8	-	4	2001	c.1746G>T	c.(1744-1746)ctG>ctT	p.L582L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	582								p.L582L(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTAAACCATCCAGCTTGCAGG	0.453000													23	44					2.21704e-12	2.8036e-12	0.639603	1	0
MMP2	4313	broad.mit.edu	37	16	55523613	55523613	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:55523613T>G	ENST00000219070.4	+	7	1566	c.1057T>G	c.(1057-1059)Ttc>Gtc	p.F353V	MMP2_ENST00000570308.1_Missense_Mutation_p.F277V|MMP2_ENST00000543485.1_Missense_Mutation_p.F277V|MMP2_ENST00000437642.2_Missense_Mutation_p.F303V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	353	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.F353V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTCTTCCCCTTCACTTTCCT	0.572000													20	78					0	0	0.592651	0	0
DSP	1832	broad.mit.edu	37	6	7572277	7572277	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:7572277C>A	ENST00000379802.3	+	15	2447	c.2106C>A	c.(2104-2106)atC>atA	p.I702I	DSP_ENST00000418664.2_Silent_p.I702I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	702	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.I702I(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCACCACATCACAGTGAAAA	0.428000													18	28					1.33834e-09	1.64808e-09	0.557998	1	0
OR10C1	442194	broad.mit.edu	37	6	29408150	29408150	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:29408150G>A	ENST00000444197.2	+	1	1068	c.358G>A	c.(358-360)Gac>Aac	p.D120N	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CATGGCCTATGACCGCTATGC	0.627000													5	64					0	0	0.217242	0	0
EHBP1	23301	broad.mit.edu	37	2	63176253	63176253	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:63176253A>G	ENST00000263991.5	+	14	2859	c.2377A>G	c.(2377-2379)Aga>Gga	p.R793G	EHBP1_ENST00000405289.1_Missense_Mutation_p.R758G|EHBP1_ENST00000405015.3_Missense_Mutation_p.R758G|EHBP1_ENST00000354487.3_Missense_Mutation_p.R758G|EHBP1_ENST00000431489.1_Missense_Mutation_p.R758G	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	793						cytoplasm|membrane		p.R793G(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATGCTGATAGAACCACTTT	0.353000													3	33					0	0	0.115264	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919276	154919276	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:154919276G>C	ENST00000368463.3	-	10	945	c.874C>G	c.(874-876)Caa>Gaa	p.Q292E	PBXIP1_ENST00000368465.1_Missense_Mutation_p.Q263E|PBXIP1_ENST00000542459.1_Missense_Mutation_p.Q137E|PBXIP1_ENST00000539880.1_Missense_Mutation_p.Q119E	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	292					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.Q292E(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCTTCCTTTTGGGCCTAGAAT	0.542000													12	133					0	0	0.479597	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460008	107460008	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:107460008G>T	ENST00000409382.3	-	2	1036	c.426C>A	c.(424-426)agC>agA	p.S142R	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S142R|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S142R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	142					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S142R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTGAGTGTGGCTGTGCCACC	0.577000													33	137					1.21669e-08	1.48531e-08	0.779181	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745564	77745564	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:77745564C>T	ENST00000409088.3	-	3	1845	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	LRRTM4_ENST00000409884.1_Missense_Mutation_p.M477I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.M478I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M478I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.M477I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	477						integral to membrane		p.M477I(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGGGAATTCATTTGTCTTT	0.458000													5	22					0	0	0.184627	0	0
DUSP8	1850	broad.mit.edu	37	11	1580240	1580240	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:1580240C>T	ENST00000397374.3	-	4	543	c.416G>A	c.(415-417)gGc>gAc	p.G139D	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.G139D	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	139					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.G139D(1)		endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCAGGCTTGCCCTCGCAGAG	0.677000													3	23					0	0	0.115264	0	0
OTX2	5015	broad.mit.edu	37	14	57268456	57268456	+	Silent	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:57268456C>T	ENST00000339475.5	-	5	1167	c.891G>A	c.(889-891)ttG>ttA	p.L297L	OTX2_ENST00000555006.1_Silent_p.L289L|OTX2_ENST00000408990.3_Silent_p.L289L	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	289					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.L297L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CAGGTCTTCACAAAACCTGGA	0.413000													29	46					0	0	0.717897	0	0
PHF12	57649	broad.mit.edu	37	17	27240044	27240044	+	Silent	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:27240044T>A	ENST00000577226.1	-	9	1891	c.1545A>T	c.(1543-1545)ccA>ccT	p.P515P	PHF12_ENST00000332830.4_Silent_p.P515P|PHF12_ENST00000268756.3_Silent_p.P515P|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	515	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.P515P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCTCTAGGGCTGGGGACTGGT	0.557000													35	95					0	0	0.804634	0	0
RARA	5914	broad.mit.edu	37	17	38508718	38508718	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:38508718G>T	ENST00000254066.5	+	6	1221	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	RARA_ENST00000394089.2_Missense_Mutation_p.D256Y|RARA_ENST00000394086.3_Missense_Mutation_p.D272Y|RARA_ENST00000425707.3_Missense_Mutation_p.D159Y|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.D251Y	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	256	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.D256Y(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACCATCGCCGACCAGATCAC	0.602000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								9	34					1.11149e-13	1.41189e-13	0.361761	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166944759	166944759	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:166944759G>A	ENST00000510118.1	-	5	674	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L95F|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.L87F|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	87	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L87F(1)|p.L95F(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATGGCGTAGAGCTGCCCAGCG	0.502000													15	82					0	0	0.479597	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860906	27860906	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:27860906C>A	ENST00000359611.2	-	1	57	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	8					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.G8C(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCTTGCCGCCCTGCTTGCCA	0.582000													15	37					1.3612e-06	1.55409e-06	0.479597	1	0
TEX2	55852	broad.mit.edu	37	17	62271159	62271159	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr17:62271159T>A	ENST00000258991.3	-	4	2020	c.1936A>T	c.(1936-1938)Atg>Ttg	p.M646L	TEX2_ENST00000584379.1_Missense_Mutation_p.M646L|TEX2_ENST00000583097.1_Missense_Mutation_p.M646L			Q8IWB9	TEX2_HUMAN	testis expressed 2	646					signal transduction|sphingolipid metabolic process	integral to membrane		p.M646L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCTTTAGACATAAAGTCATCT	0.463000													31	109					0	0	0.750413	0	0
ELF1	1997	broad.mit.edu	37	13	41518040	41518040	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr13:41518040C>A	ENST00000239882.3	-	6	865	c.551G>T	c.(550-552)cGa>cTa	p.R184L	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.R160L	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	184					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R184L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GGAATCTGGTCGTGGTGGTTT	0.358000													4	35					1.23904e-05	1.37563e-05	0.184627	1	0
OR5B17	219965	broad.mit.edu	37	11	58125914	58125914	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:58125914A>G	ENST00000357377.3	-	1	628	c.629T>C	c.(628-630)cTt>cCt	p.L210P		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L210P(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAGGTAACAAGAAGTGCAAA	0.388000													3	23					0	0	0.115264	0	0
DGKI	9162	broad.mit.edu	37	7	137363363	137363363	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:137363363C>G	ENST00000424189.2	-	3	775	c.546G>C	c.(544-546)gaG>gaC	p.E182D	DGKI_ENST00000446122.1_Missense_Mutation_p.E182D|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.E182D			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	182					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.E182D(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGACGTTGGTCTCCAGCCACA	0.502000													29	95					0	0	0.769981	0	0
C11orf49	79096	broad.mit.edu	37	11	47179382	47179382	+	Silent	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:47179382T>A	ENST00000395460.2	+	7	704	c.666T>A	c.(664-666)ctT>ctA	p.L222L	C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378618.2_Silent_p.L222L|C11orf49_ENST00000278460.7_Silent_p.L222L|C11orf49_ENST00000378615.3_Silent_p.L222L|C11orf49_ENST00000543718.1_Silent_p.L138L|C11orf49_ENST00000536126.1_Silent_p.L125L	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	222								p.L222L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CCCCAGCACTTGTCAAAGAGG	0.527000													26	100					0	0	0.740014	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570480	570480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr16:570480C>T	ENST00000262305.4	+	13	2426	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	RAB11FIP3_ENST00000457159.1_Nonsense_Mutation_p.Q725*|RAB11FIP3_ENST00000450428.1_Nonsense_Mutation_p.Q384*	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	680					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.Q680*(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCTGAAGGAGCAGAACGAGGA	0.592000													15	53					0	0	0.539581	0	0
DNAH11	8701	broad.mit.edu	37	7	21901534	21901534	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr7:21901534C>G	ENST00000328843.6	+	70	11318	c.11287C>G	c.(11287-11289)Cgc>Ggc	p.R3763G	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3756G			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3763					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3763G(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CATGCAGGGACGCATCTCTAT	0.507000									Kartagener syndrome				11	29					0	0	0.361761	0	0
FSCB	84075	broad.mit.edu	37	14	44975732	44975732	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:44975732C>G	ENST00000340446.4	-	1	750	c.459G>C	c.(457-459)aaG>aaC	p.K153N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	153						cilium		p.K153_E154>N*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTGTTGTTCCTTGTCCACTT	0.413000													52	141					0	0	0.870114	0	0
CLK2	1196	broad.mit.edu	37	1	155239366	155239366	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:155239366C>G	ENST00000368361.4	-	3	627	c.312G>C	c.(310-312)gaG>gaC	p.E104D	CLK2_ENST00000361168.5_Missense_Mutation_p.E104D|CLK2_ENST00000536801.1_Missense_Mutation_p.E104D|CLK2_ENST00000355560.4_Missense_Mutation_p.E103D			P49760	CLK2_HUMAN	CDC-like kinase 2	104						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E104D(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AACTGCTGTTCTCCCGCTGAT	0.587000								Other conserved DNA damage response genes					42	166					0	0	0.853193	0	0
CDC37L1	55664	broad.mit.edu	37	9	4697785	4697785	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr9:4697785A>G	ENST00000381854.3	+	5	855	c.653A>G	c.(652-654)cAt>cGt	p.H218R	CDC37L1_ENST00000381858.1_Missense_Mutation_p.H218R	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	218	Self-association and interaction with Hsp90.					cytoplasm		p.H218R(1)		breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAAATAGCACATCAAGCTGTT	0.299000													7	19					0	0	0.307466	0	0
ASTN1	460	broad.mit.edu	37	1	176903371	176903371	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:176903371C>G	ENST00000367654.2	-	16	2625	c.2612G>C	c.(2611-2613)gGc>gCc	p.G871A	ASTN1_ENST00000424564.2_Missense_Mutation_p.G863A|ASTN1_ENST00000361833.2_Missense_Mutation_p.G863A|ASTN1_ENST00000367657.3_Missense_Mutation_p.G863A			O14525	ASTN1_HUMAN	astrotactin 1	871					cell migration|neuron cell-cell adhesion	integral to membrane		p.G863A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCCTCAAAGCCGTAGATAGC	0.522000													18	34					0	0	0.539581	0	0
LAMA5	3911	broad.mit.edu	37	20	60885352	60885352	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:60885352G>A	ENST00000252999.3	-	77	10682	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3539	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.T3539I(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCAGGCAGTGTAGCTCCTGG	0.677000													15	30					0	0	0.500413	0	0
SPTA1	6708	broad.mit.edu	37	1	158624414	158624414	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:158624414C>A	ENST00000368148.3	-	21	3203	c.3023G>T	c.(3022-3024)aGt>aTt	p.S1008I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1008I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1008	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1008I(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGATGGAACTGAGCAGCGT	0.448000													6	45					0.0293803	0.0302382	0.248553	1	0
OR13C5	138799	broad.mit.edu	37	9	107360999	107360999	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr9:107360999C>A	ENST00000374779.2	-	1	789	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232D(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGCTTCTCCCCTCCGAAGAGC	0.423000													10	52					1.61879e-10	2.01101e-10	0.411799	1	0
LRRC7	57554	broad.mit.edu	37	1	70502175	70502175	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:70502175G>A	ENST00000310961.5	+	21	2475	c.2057G>A	c.(2056-2058)aGt>aAt	p.S686N	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.S681N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	681						centrosome|focal adhesion|nucleolus	protein binding	p.S681N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGAATAACAGTGTTTCCTCA	0.428000													14	30					0	0	0.457914	0	0
ANO4	121601	broad.mit.edu	37	12	101514344	101514344	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr12:101514344T>A	ENST00000392979.3	+	25	2873	c.2512T>A	c.(2512-2514)Tac>Aac	p.Y838N	ANO4_ENST00000550015.1_Missense_Mutation_p.Y393N|ANO4_ENST00000392977.3_Missense_Mutation_p.Y873N|ANO4_ENST00000299222.9_Missense_Mutation_p.Y393N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	873						chloride channel complex	chloride channel activity	p.Y838N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCCTATGGCTACACACTGCA	0.403000										HNSCC(74;0.22)			14	25					0	0	0.479597	0	0
PIPSL	266971	broad.mit.edu	37	10	95719536	95719536	+	RNA	SNP	C	C	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:95719536C>G	ENST00000480546.1	-	0	1761					NR_002319.2																						CAGTCATTATCCAGTGTGATA	0.537000													4	15					0	0	0.150653	0	0
ACAN	176	broad.mit.edu	37	15	89386810	89386810	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr15:89386810G>A	ENST00000439576.2	+	6	1356	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	ACAN_ENST00000561243.1_Missense_Mutation_p.V328I|ACAN_ENST00000559004.1_Missense_Mutation_p.V328I|ACAN_ENST00000352105.7_Missense_Mutation_p.V328I|ACAN_ENST00000558207.1_Missense_Mutation_p.V328I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	328					cell adhesion		hyaluronic acid binding|sugar binding	p.V328I(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGTGAGGACCGTCTACGTGCA	0.682000													16	13					0	0	0.539581	0	0
PPEF2	5470	broad.mit.edu	37	4	76794373	76794373	+	Silent	SNP	C	C	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:76794373C>A	ENST00000286719.7	-	12	1769	c.1413G>T	c.(1411-1413)gtG>gtT	p.V471V		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	471	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.V471V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTGTTGTGTCACATCAGGCC	0.473000													21	50					2.4624e-09	3.01911e-09	0.575678	1	0
TM9SF2	9375	broad.mit.edu	37	13	100190023	100190023	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr13:100190023A>G	ENST00000376387.4	+	6	812	c.622A>G	c.(622-624)Atc>Gtc	p.I208V	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	208					transport	endosome membrane|integral to plasma membrane		p.I208V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TACATTTTACATCTTCAACCA	0.333000													16	19					0	0	0.479597	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208725	65208725	+	Silent	SNP	G	G	A			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:65208725G>A	ENST00000247226.7	+	14	2630	c.2322G>A	c.(2320-2322)aaG>aaA	p.K774K	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.K363K|PLEKHG3_ENST00000394691.1_Silent_p.K830K|PLEKHG3_ENST00000484731.2_Silent_p.K335K	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	830					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K774K(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCCCTGGGAAGGGGCCAGGCC	0.597000													11	79					0	0	0.411799	0	0
PRNT	149830	broad.mit.edu	37	20	4713134	4713134	+	Silent	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:4713134G>C	ENST00000326539.2	-	2	1126	c.189C>G	c.(187-189)acC>acG	p.T63T	PRNT_ENST00000423718.2_Silent_p.T63T|PRNT_ENST00000418528.1_Silent_p.T63T														p.T63T(2)		endometrium(2)|lung(5)	7						ctgccttcaaggtgctcacag	0.433000													3	12					0	0	0.115264	0	0
FBXL7	23194	broad.mit.edu	37	5	15928384	15928384	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr5:15928384G>T	ENST00000504595.1	+	3	994	c.513G>T	c.(511-513)aaG>aaT	p.K171N	FBXL7_ENST00000510662.1_Missense_Mutation_p.K124N|FBXL7_ENST00000329673.7_Missense_Mutation_p.K159N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	171					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.K171N(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCGCCCTCAAGGTGCTGACCC	0.657000													6	11					0.0293803	0.0302382	0.248553	1	0
NKX2-2	4821	broad.mit.edu	37	20	21494245	21494245	+	Silent	SNP	G	G	C			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr20:21494245G>C	ENST00000377142.4	-	1	419	c.63C>G	c.(61-63)acC>acG	p.T21T		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	21					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.T21T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCTCATCGTTGGTGTCCGGCA	0.612000													18	39					0	0	0.557998	0	0
ZNF330	27309	broad.mit.edu	37	4	142152624	142152624	+	Silent	SNP	A	A	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr4:142152624A>G	ENST00000262990.4	+	8	783	c.555A>G	c.(553-555)tcA>tcG	p.S185S	ZNF330_ENST00000421169.2_Silent_p.S125S	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	185						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.S185S(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GTCAGCACTCATGTCTCCGTT	0.348000													10	159					0	0	0.361761	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													5	9	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158627368	158627368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr1:158627368delG	ENST00000368148.3	-	19	2884	c.2704delC	c.(2704-2706)agfs	p.Q903fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.Q903fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	903					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTACTGCTGGAACTGGACA	0.473													51	243	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aafs	p.K65fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333													6	9	---	---	---	---					
TGFBRAP1	9392	broad.mit.edu	37	2	105924597	105924597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr2:105924597delC	ENST00000393359.2	-	2	588	c.162delG	c.(160-162)agfs	p.R54fs	TGFBRAP1_ENST00000258449.1_Frame_Shift_Del_p.R54fs			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	54	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CAGGCACTGGCCTCTCCTCCA	0.612													8	39	---	---	---	---					
MON1A	84315	broad.mit.edu	37	3	49947983	49947984	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr3:49947983_49947984delGC	ENST00000417270.1	-	5	1664_1665	c.971_972delGC	c.(970-972)cfs	p.R324fs	MON1A_ENST00000455683.2_Frame_Shift_Del_p.R251fs|MON1A_ENST00000296473.3_Frame_Shift_Del_p.R413fs|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	316							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGACCAGGCTGCGCGCACGCGC	0.688													10	10	---	---	---	---					
USP45	85015	broad.mit.edu	37	6	99894011	99894011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr6:99894011delT	ENST00000327681.6	-	14	2169	c.1637delA	c.(1636-1638)agfs	p.K546fs	USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Frame_Shift_Del_p.K498fs|USP45_ENST00000392738.2_Frame_Shift_Del_p.K226fs|USP45_ENST00000500704.2_Frame_Shift_Del_p.K546fs	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	546					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GTCAGTCTCCTTGGTGTACAG	0.478													7	47	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													2	4	---	---	---	---					
OR52E2	119678	broad.mit.edu	37	11	5080543	5080543	+	Frame_Shift_Del	DEL	A	A	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:5080543delA	ENST00000321522.2	-	1	314	c.315delT	c.(313-315)ttfs	p.F105fs		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTTGTGGATAAAAAACATCT	0.473													7	20	---	---	---	---					
OR4D5	219875	broad.mit.edu	37	11	123810475	123810475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:123810475delC	ENST00000307033.2	+	1	226	c.152delC	c.(151-153)tcfs	p.S51fs		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATAGTGACCTCCGACCCACAC	0.448													18	103	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134054812	134054813	+	Frame_Shift_Ins	INS	-	-	G			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr11:134054812_134054813insG	ENST00000534548.2	-	18	2384_2385	c.2320_2321insC	c.(2320-2322)ggafs	p.G774fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	774					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.R774R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACTTTGTCCCGGGTGCTCTTA	0.455													12	356	---	---	---	---					
HHIPL1	84439	broad.mit.edu	37	14	100118840	100118840	+	Frame_Shift_Del	DEL	A	A	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr14:100118840delA	ENST00000330710.5	+	2	633	c.535delA	c.(535-537)agfs	p.K179fs	HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.K179fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	179					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGCCGATGCCAAGGGCTGCCT	0.632													24	73	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													2	4	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630576	54630576	+	Frame_Shift_Del	DEL	C	C	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr15:54630576delC	ENST00000545554.1	+	16	4602	c.4602delC	c.(4600-4602)agfs	p.S1534fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.S1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.S1532fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCTGCAAAGCCCCCCAAAAG	0.403													15	95	---	---	---	---					
PIAS1	8554	broad.mit.edu	37	15	68378698	68378698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr15:68378698delG	ENST00000545237.1	+	3	826	c.85delG	c.(85-87)ggfs	p.G29fs	PIAS1_ENST00000249636.6_Frame_Shift_Del_p.G27fs			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	27	SAP.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.G27R(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGGCTACGCCGGGAGAAACAA	0.403													11	7	---	---	---	---					
SPHK2	56848	broad.mit.edu	37	19	49131413	49131430	+	Splice_Site	DEL	CTCCAGGTGCTGAACGGG	CTCCAGGTGCTGAACGGG	-			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr19:49131413_49131430delCTCCAGGTGCTGAACGGG	ENST00000443164.1	+	4	1647_1659	c.942_splice	c.e4-1	p.314_splice	SPHK2_ENST00000598088.1_Splice_Site_p.252_splice|SPHK2_ENST00000245222.4_Splice_Site_p.252_splice|SPHK2_ENST00000599029.1_Splice_Site_p.216_splice|SPHK2_ENST00000601712.1_Splice_Site_p.216_splice|SPHK2_ENST00000600537.1_Splice_Site_p.193_splice|SPHK2_ENST00000340932.3_Splice_Site_p.216_splice|SPHK2_ENST00000599748.1_Splice_Site_p.216_splice			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	252	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCTCCCACCCTCCAGGTGCTGAACGGGCTCCTAGATC	0.661													7	27	---	---	---	---					
IGLC3	3539	broad.mit.edu	37	22	23248846	23248846	+	RNA	DEL	C	C	-	rs71815924		TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chr22:23248846delC	ENST00000390325.2	+	0	335																											TCAACCCTCACCCCCCACCAC	0.587													9	16	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154157685	154157686	+	Frame_Shift_Ins	INS	-	-	T			TCGA-80-5611-01A-01D-1625-08	TCGA-80-5611-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bab512-c5c3-4ad3-a9bf-f5258e405966	be2cadb2-3de4-46a2-9dd7-9c748e0b2b92	g.chrX:154157685_154157686insT	ENST00000360256.4	-	14	4579_4580	c.4379_4380insA	c.(4378-4380)aaafs	p.K1460fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1460	B.		N -> K (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGAAAGGTTATTTTTTTTGGC	0.416													42	31	---	---	---	---					
