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
EPPK1	83481	broad.mit.edu	37	8	144940720	144940720	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:144940720C>T	ENST00000525985.1	-	2	6773	c.6702G>A	c.(6700-6702)aaG>aaA	p.K2234K				P58107	EPIPL_HUMAN	epiplakin 1	2234						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGCTGGTCCTTGGCGGGCA	0.697000													26	81					0	0	0.000878237	0	0
DDI1	414301	broad.mit.edu	37	11	103907691	103907691	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:103907691C>T	ENST00000302259.3	+	1	384	c.141C>T	c.(139-141)atC>atT	p.I47I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	47	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGATCCAGATCATCCACATGG	0.557000													52	42					0	0	0.000781405	0	0
XRCC2	7516	broad.mit.edu	37	7	152346130	152346130	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:152346130A>G	ENST00000359321.1	-	3	525	c.440T>C	c.(439-441)aTt>aCt	p.I147T	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	147					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCTATCCAAAATCAAAAGGCA	0.408000								Homologous recombination					20	69					0	0	0.00121646	0	0
BMP2	650	broad.mit.edu	37	20	6759224	6759224	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:6759224G>A	ENST00000378827.4	+	3	1898	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	227					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CCATGGATTCGTGGTGGAAGT	0.522000													6	21					0	0	0.00116845	0	0
ENPP7	339221	broad.mit.edu	37	17	77709027	77709027	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:77709027C>T	ENST00000328313.5	+	3	806	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	195					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTCTACTTCGGGGAGCCGG	0.622000													10	18					0	0	0.00136819	0	0
MACROD2	140733	broad.mit.edu	37	20	15412057	15412057	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:15412057C>T	ENST00000217246.4	+	7	943	c.548C>T	c.(547-549)cCc>cTc	p.P183L	MACROD2_ENST00000310348.4_Missense_Mutation_p.P183L|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	183	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAGGCATTTCCCTGCATCTCA	0.313000													22	74					0	0	0.00127121	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579362	140579362	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140579362G>A	ENST00000354757.3	+	1	15	c.15G>A	c.(13-15)ggG>ggA	p.G5G	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		5					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACCAAGGGACACGCACTC	0.498000													17	15					0	0	0.000566183	0	0
ALCAM	214	broad.mit.edu	37	3	105266104	105266104	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:105266104G>A	ENST00000306107.5	+	10	1716	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	ALCAM_ENST00000472644.2_Missense_Mutation_p.E406K|ALCAM_ENST00000389927.4_Missense_Mutation_p.E128K|ALCAM_ENST00000486979.2_Missense_Mutation_p.E355K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	406	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAGAAAAGAGAGTCATTGAC	0.378000													22	24					0	0	0.00188189	0	0
IGLV5-48	28780	broad.mit.edu	37	22	22707592	22707592	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:22707592G>A	ENST00000390293.1	+	0	180																											ACCAGCAGAAGCCAGAGAGCC	0.547000													26	61					0	0	0.000720815	0	0
SVOPL	136306	broad.mit.edu	37	7	138305866	138305866	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:138305866C>T	ENST00000421622.1	-	10	1126	c.918G>A	c.(916-918)acG>acA	p.T306T	SVOPL_ENST00000288513.5_Silent_p.T274T|SVOPL_ENST00000436657.1_Silent_p.T274T|SVOPL_ENST00000419765.3_Silent_p.T426T|SVOPL_ENST00000463557.1_Intron			Q8N434	SVOPL_HUMAN	SVOP-like	426						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAGCGCGCATCGTGGTGGGGT	0.602000													13	15					0	0	0.00244969	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713652	70713652	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:70713652C>T	ENST00000530196.1	-	0	866					NR_003951.1																						ACATGGAATCCACTATGTTGA	0.368000													21	46					0	0	0.00229938	0	0
FAM83B	222584	broad.mit.edu	37	6	54805208	54805208	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:54805208G>A	ENST00000306858.7	+	5	1555	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	480										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAACAACGAATGCCAACC	0.413000													22	41					0	0	0.00188189	0	0
KCNIP3	30818	broad.mit.edu	37	2	95963201	95963201	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:95963201G>A	ENST00000295225.5	+	1	150	c.15_splice	c.e1+1	p.K5_splice	KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	5					apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		AGCCGGCTAAGGTAGGTGCTG	0.627000													3	6					0	0	0.00024832	0	0
SLC9A7	84679	broad.mit.edu	37	X	46532037	46532037	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:46532037G>A	ENST00000328306.4	-	4	654	c.629C>T	c.(628-630)tCt>tTt	p.S210F		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	210					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGCCAGTATAGATCCAAGATT	0.358000													34	88					0	0	0.00128727	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	60					0	0	0.00024832	0	0
GREM2	64388	broad.mit.edu	37	1	240656512	240656512	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:240656512C>T	ENST00000318160.4	-	2	530	c.264G>A	c.(262-264)cgG>cgA	p.R88R		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	88	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TGGTGCGGCTCCGGCAGCCCT	0.647000													13	39					0	0	0.000308642	0	0
CTSF	8722	broad.mit.edu	37	11	66333315	66333315	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:66333315G>A	ENST00000310325.5	-	7	1060	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	317					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTTCAGAGAGGGAGAGCAGGG	0.597000													6	48					0	0	0.00198382	0	0
LYRM5	144363	broad.mit.edu	37	12	25357093	25357093	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:25357093C>T	ENST00000557540.2	+	3	283	c.114C>T	c.(112-114)ttC>ttT	p.F38F	LYRM5_ENST00000381356.4_Silent_p.F40F|LYRM5_ENST00000554266.1_3'UTR|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000556927.1_Silent_p.F38F|LYRM5_ENST00000556885.1_Silent_p.F38F|LYRM5_ENST00000556351.1_Silent_p.F38F|LYRM5_ENST00000556402.1_3'UTR			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	38										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			AGAACATTTTCCTTAAAAACA	0.338000													24	37					0	0	0.00229938	0	0
FGF12	2257	broad.mit.edu	37	3	192053236	192053236	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:192053236G>A	ENST00000454309.2	-	3	1153	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	FGF12_ENST00000445105.1_Missense_Mutation_p.P48S|FGF12_ENST00000430714.1_Missense_Mutation_p.P11S|FGF12_ENST00000264730.3_Missense_Mutation_p.P48S|FGF12_ENST00000450716.1_Missense_Mutation_p.P48S	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	110					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AGGCCCACGGGAATTAGATTG	0.433000													8	38					0	0	0.000157383	0	0
CP	1356	broad.mit.edu	37	3	148928058	148928058	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:148928058C>G	ENST00000264613.6	-	3	765	c.503G>C	c.(502-504)gGg>gCg	p.G168A		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	168	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G168V(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATCTCCTTCCCCAGGACTTTG	0.413000													23	89					0	0	0.00188189	0	0
GPR113	165082	broad.mit.edu	37	2	26533850	26533850	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:26533850C>T	ENST00000333478.6	-	8	2731	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	GPR113_ENST00000421160.2_Missense_Mutation_p.E847K|GPR113_ENST00000541401.1_Missense_Mutation_p.E519K|GPR113_ENST00000311519.1_Missense_Mutation_p.E916K|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	916	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGCATTCCCCCTCCCTC	0.612000													4	8					0	0	0.00198382	0	0
ERGIC3	51614	broad.mit.edu	37	20	34144766	34144766	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:34144766C>T	ENST00000348547.2	+	11	979	c.902C>T	c.(901-903)tCt>tTt	p.S301F	ERGIC3_ENST00000357394.4_Missense_Mutation_p.S306F|ERGIC3_ENST00000447986.1_Missense_Mutation_p.S316F|ERGIC3_ENST00000279052.6_Missense_Mutation_p.S306F	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	301					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AATCAGTTCTCTGTGACCAGA	0.612000													15	22					0	0	0.000958276	0	0
DKK2	27123	broad.mit.edu	37	4	107846995	107846995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:107846995G>A	ENST00000285311.3	-	2	1039	c.334C>T	c.(334-336)Cga>Tga	p.R112*	DKK2_ENST00000510463.1_Nonsense_Mutation_p.R66*|DKK2_ENST00000513208.1_Nonsense_Mutation_p.R12*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGCCATCTCGGTGGCAGCGC	0.493000													46	67					0	0	0.000781405	0	0
FCRL1	115350	broad.mit.edu	37	1	157771776	157771776	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:157771776C>T	ENST00000358292.3	-	5	866	c.815G>A	c.(814-816)gGa>gAa	p.G272E	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.G272E|FCRL1_ENST00000491942.1_Missense_Mutation_p.G272E	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	272	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGAGTAGTTTCCAGAATGTTC	0.557000													25	62					0	0	0.000586117	0	0
MAN2A1	4124	broad.mit.edu	37	5	109125208	109125208	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:109125208A>G	ENST00000261483.4	+	12	2975	c.1923A>G	c.(1921-1923)atA>atG	p.I641M		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	641					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.I641M(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAATATAATAAGGCTGAGTG	0.299000													4	8					0	0	0.000602214	0	0
TP53	7157	broad.mit.edu	37	17	7579329	7579329	+	Missense_Mutation	SNP	T	T	C	rs121912658		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:7579329T>C	ENST00000420246.2	-	4	490	c.358A>G	c.(358-360)Aag>Gag	p.K120E	TP53_ENST00000413465.2_Missense_Mutation_p.K120E|TP53_ENST00000445888.2_Missense_Mutation_p.K120E|TP53_ENST00000269305.4_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCACAGACTTGGCTGTCCCA	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	32					0	0	0.00058488	0	0
RNF17	56163	broad.mit.edu	37	13	25367326	25367326	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:25367326C>T	ENST00000255324.5	+	10	1134	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	RNF17_ENST00000381921.1_Missense_Mutation_p.P361L|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.P362L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	361				P -> S (in Ref. 1; AAK31981).	multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCACCACCTCCTTTGCAACCT	0.408000													67	150					0	0	0.000781405	0	0
GPC5	2262	broad.mit.edu	37	13	92345753	92345753	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:92345753G>A	ENST00000377067.3	+	3	1010	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAGTAATGGGACAGATGGGG	0.517000													18	25					0	0	0.00074312	0	0
TBC1D32	221322	broad.mit.edu	37	6	121625524	121625524	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:121625524G>A	ENST00000275159.6	-	8	921	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	TBC1D32_ENST00000398212.2_Missense_Mutation_p.R308C					TBC1 domain family, member 32																		TCTGGATGACGAATCCAGAAA	0.398000													18	47					0	0	0.00121646	0	0
KDR	3791	broad.mit.edu	37	4	55956161	55956161	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:55956161C>T	ENST00000263923.4	-	23	3449	c.3154G>A	c.(3154-3156)Gat>Aat	p.D1052N	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1052	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTATAAATATCCCGGGCCAAG	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			27	59					0	0	0.00106085	0	0
CLTC	1213	broad.mit.edu	37	17	57760513	57760513	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:57760513C>G	ENST00000269122.3	+	25	4205	c.3931C>G	c.(3931-3933)Cga>Gga	p.R1311G	CLTC_ENST00000579456.1_Missense_Mutation_p.R248G|CLTC_ENST00000393043.1_Missense_Mutation_p.R1311G	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1311	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGGACTTGAGCGAGCTCACAT	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """								29	23					0	0	0.001512	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464712	70464712	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:70464712G>A	ENST00000373998.1	-	19	3700	c.3003C>T	c.(3001-3003)ttC>ttT	p.F1001F	ZMYM3_ENST00000314425.5_Silent_p.F1013F|ZMYM3_ENST00000373988.1_Silent_p.F1015F|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.F1015F|ZMYM3_ENST00000353904.2_Silent_p.F1013F	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1013					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AATCAAAGAGGAAGTCTACAC	0.478000													16	39					0	0	0.00121646	0	0
DCST1	149095	broad.mit.edu	37	1	155013970	155013970	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:155013970A>G	ENST00000295542.1	+	7	725	c.629A>G	c.(628-630)gAg>gGg	p.E210G	DCST1_ENST00000423025.2_Missense_Mutation_p.E185G|DCST1_ENST00000368419.2_Missense_Mutation_p.E210G|DCST1_ENST00000392480.1_Missense_Mutation_p.E210G	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	210						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TACACGCCTGAGGATACCATG	0.577000													18	50					0	0	0.00074312	0	0
OR10K1	391109	broad.mit.edu	37	1	158436017	158436017	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:158436017C>T	ENST00000289451.2	+	1	746	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I222I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCGCATCATCTCTGCCATTC	0.478000													27	58					0	0	0.000586117	0	0
RERE	473	broad.mit.edu	37	1	8418512	8418512	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:8418512G>A	ENST00000337907.3	-	21	4717	c.4083C>T	c.(4081-4083)ccC>ccT	p.P1361P	RERE_ENST00000476556.1_Silent_p.P807P|RERE_ENST00000400908.2_Silent_p.P1361P|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P1093P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1361					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAAAAGGGTGGGGCCCGGCGG	0.697000													4	13					0	0	0.00024832	0	0
FBLN1	2192	broad.mit.edu	37	22	45970515	45970515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:45970515G>A	ENST00000327858.6	+	15	1917	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	FBLN1_ENST00000348697.2_Intron	NM_006486.2	NP_006477.2	P23142	FBLN1_HUMAN	fibulin 1	608					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTCCGCGAGTTCACCCG	0.647000													19	17					0	0	0.00188189	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481160	142481160	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:142481160C>T	ENST00000603901.1	+	0	234					NR_001296.3																						AGCACAATATCGAAGTCCTGG	0.522000													45	10					0	0	0.000781405	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641931	121641931	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:121641931C>T	ENST00000489711.1	+	10	1300	c.912C>T	c.(910-912)ttC>ttT	p.F304F	SLC15A2_ENST00000295605.2_Silent_p.F273F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	304					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGGTACTATTCCTTTATATCC	0.453000													57	135					0	0	0.000781405	0	0
ADCY10	55811	broad.mit.edu	37	1	167805774	167805774	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:167805774C>T	ENST00000367848.1	-	23	3303	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	ADCY10_ENST00000485964.1_Intron|ADCY10_ENST00000545172.1_Missense_Mutation_p.E875K|ADCY10_ENST00000367851.4_Missense_Mutation_p.E1028K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1028					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTTATTTCTTCAGGACTGTCC	0.358000													20	65					0	0	0.00229938	0	0
ZNF154	7710	broad.mit.edu	37	19	58213359	58213359	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:58213359G>A	ENST00000512439.2	-	3	1154	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.H320Y			Q13106	ZN154_HUMAN	zinc finger protein 154	320						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAACCCTATGGTGTTCAATG	0.473000													23	52					0	0	0.00188189	0	0
RIN3	79890	broad.mit.edu	37	14	93118452	93118452	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:93118452C>T	ENST00000216487.7	+	6	1217	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	353	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGCCTGGGCCCCCTCAGGGAG	0.682000													13	25					0	0	0.00244969	0	0
KLHL20	27252	broad.mit.edu	37	1	173725152	173725152	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:173725152C>T	ENST00000209884.4	+	6	1078	c.942C>T	c.(940-942)atC>atT	p.I314I	KLHL20_ENST00000546011.1_Silent_p.I125I	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	314					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGAAACCTATCCGATGTGGGG	0.418000													14	41					0	0	0.00244969	0	0
IP6K3	117283	broad.mit.edu	37	6	33703227	33703227	+	Silent	SNP	G	G	A	rs150212654		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33703227G>A	ENST00000451316.1	-	3	562	c.27C>T	c.(25-27)gcC>gcT	p.A9A	IP6K3_ENST00000293756.4_Silent_p.A9A	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	9					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCATGTCCCCGGCGTCTGCGC	0.617000													9	25					0	0	0.000978159	0	0
HDAC8	55869	broad.mit.edu	37	X	71684536	71684536	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:71684536G>A	ENST00000373573.3	-	8	1124	c.783C>T	c.(781-783)gtC>gtT	p.V261V	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Silent_p.V66V|HDAC8_ENST00000373589.4_Silent_p.V170V	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	261	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CCAGCTGTAAGACCACTGCTT	0.428000													24	48					0	0	0.000878237	0	0
NNT	23530	broad.mit.edu	37	5	43628326	43628326	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:43628326G>A	ENST00000264663.5	+	7	1022	c.801G>A	c.(799-801)aaG>aaA	p.K267K	NNT_ENST00000512996.2_Silent_p.K136K|NNT_ENST00000344920.4_Silent_p.K267K	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	267					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AACAGTTCAAGTCTCTTGGTG	0.418000													35	96					0	0	0.000953801	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377038	113377038	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:113377038G>A	ENST00000316407.4	-	7	3901	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1164L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1164					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGCTTCAGAAGGCTTTGAAGC	0.453000													25	56					0	0	0.000586117	0	0
GFAP	2670	broad.mit.edu	37	17	42992742	42992742	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:42992742G>A	ENST00000253408.5	-	1	178	c.113C>T	c.(112-114)tCc>tTc	p.S38F	GFAP_ENST00000586793.1_Missense_Mutation_p.S38F|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.S38F|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	38	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.S38F(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCGAGCCAGGGAGAGGCGGGT	0.692000													15	14					0	0	0.000308642	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509511	171509511	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:171509511C>T	ENST00000367742.3	+	16	3148	c.2906C>T	c.(2905-2907)cCa>cTa	p.P969L	PRRC2C_ENST00000338920.4_Missense_Mutation_p.P967L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P969L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P967L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	967							protein C-terminus binding										GAGGAGAAACCAAAAAAGGAA	0.418000													5	21					0	0	0.00116845	0	0
HSPE1	3336	broad.mit.edu	37	2	198365916	198365916	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:198365916T>C	ENST00000233893.5	+	2	565	c.122T>C	c.(121-123)gTa>gCa	p.V41A	HSPE1_ENST00000465573.1_Intron|HSPE1_ENST00000409468.1_Missense_Mutation_p.V41A|HSPE1_ENST00000409729.1_Intron|MOB4_ENST00000604458.1_Missense_Mutation_p.V41A	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			CAAGGAAAAGTATTGCAAGCA	0.423000													11	24					0	0	0.000673444	0	0
DSCAM	1826	broad.mit.edu	37	21	41465752	41465752	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:41465752G>A	ENST00000400454.1	-	21	4223	c.3746C>T	c.(3745-3747)cCc>cTc	p.P1249L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1249	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTCAGGTTGGGAATTCTGTA	0.488000													17	30					0	0	0.000566183	0	0
MFSD5	84975	broad.mit.edu	37	12	53646733	53646733	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:53646733C>T	ENST00000534842.1	+	2	582	c.435C>T	c.(433-435)ttC>ttT	p.F145F	MFSD5_ENST00000329548.4_Silent_p.F38F	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	38					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						ATCCCTCCTTCCTTCGGTTTC	0.557000													66	91					0	0	0.000781405	0	0
GPR112	139378	broad.mit.edu	37	X	135431704	135431704	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:135431704C>T	ENST00000394143.1	+	6	6130	c.5839C>T	c.(5839-5841)Cct>Tct	p.P1947S	GPR112_ENST00000287534.4_Missense_Mutation_p.P1884S|GPR112_ENST00000412101.1_Missense_Mutation_p.P1742S|GPR112_ENST00000394141.1_Missense_Mutation_p.P1742S|GPR112_ENST00000370652.1_Missense_Mutation_p.P1947S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1947					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGGAATTCTTCCTAACCATGG	0.423000													25	82					0	0	0.000720815	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578891	44578891	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:44578891C>T	ENST00000289547.4	-	2	1160	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	NPC1L1_ENST00000546276.1_Missense_Mutation_p.G369S|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G369S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G369S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	369					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGACCAGGCCCGCTGCCAAG	0.617000													37	30					0	0	0.000692331	0	0
GLIS3	169792	broad.mit.edu	37	9	4125859	4125859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:4125859C>T	ENST00000324333.10	-	2	199	c.6G>A	c.(4-6)atG>atA	p.M2I	GLIS3_ENST00000381971.3_Missense_Mutation_p.M157I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	2					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCGCTGAACCATCATGGGAC	0.507000													31	32					0	0	0.00178596	0	0
ABCA13	154664	broad.mit.edu	37	7	48269424	48269424	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:48269424C>T	ENST00000435803.1	+	7	659	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	212					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTTCTAGTTCCTTAATATCC	0.388000													73	87					0	0	0.000781405	0	0
CER1	9350	broad.mit.edu	37	9	14722582	14722582	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:14722582A>T	ENST00000380911.3	-	1	133	c.89T>A	c.(88-90)cTt>cAt	p.L30H		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	30					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TACGGGGGAAAGAGAACTCTG	0.547000													18	42					0	0	0.00121646	0	0
RTL1	388015	broad.mit.edu	37	14	101351047	101351047	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:101351047C>T	ENST00000534062.1	-	1	137	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	27										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATGAGCCCTCGGAGGACTCC	0.567000													8	26					0	0	0.000157383	0	0
CHGB	1114	broad.mit.edu	37	20	5903238	5903238	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:5903238G>A	ENST00000378961.4	+	4	652	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	150						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAAGTCTCTGAAGAAGTGAA	0.572000													7	18					0	0	0.00198382	0	0
SIX3	6496	broad.mit.edu	37	2	45171798	45171798	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:45171798G>A	ENST00000260653.3	+	2	1240	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	300					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCCGTCCACGGCGGCCAGCCC	0.701000													3	2					0	0	6.4e-05	0	0
SEPT6	23157	broad.mit.edu	37	X	118783980	118783980	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:118783980C>T	ENST00000394610.1	-	5	874	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SEPT6_ENST00000394616.4_Missense_Mutation_p.E146K|SEPT6_ENST00000394617.2_Missense_Mutation_p.E234K|SEPT6_ENST00000360156.7_Missense_Mutation_p.E204K|SEPT6_ENST00000354416.3_Missense_Mutation_p.E204K|SEPT6_ENST00000343984.5_Missense_Mutation_p.E204K|SEPT6_ENST00000354228.4_Missense_Mutation_p.E204K|SEPT6_ENST00000489216.1_Missense_Mutation_p.E204K	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	204					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTGACAAGCTCGCTGGTGATT	0.473000			T	MLL	AML								65	144					0	0	0.000781405	0	0
ZNFX1	57169	broad.mit.edu	37	20	47869280	47869280	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:47869280G>A	ENST00000396105.1	-	12	3439	c.3193C>T	c.(3193-3195)Ccc>Tcc	p.P1065S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.P1065S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P1065S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1065							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGACAAAGGGAATGTTTACT	0.502000													39	105					0	0	0.00128727	0	0
MCTP2	55784	broad.mit.edu	37	15	94841704	94841704	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:94841704G>A	ENST00000357742.4	+	1	210	c.210G>A	c.(208-210)ggG>ggA	p.G70G	MCTP2_ENST00000543482.1_Silent_p.G70G|MCTP2_ENST00000451018.3_Silent_p.G70G|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	70					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTACTCCGGGCCACAGTCTT	0.592000													60	27					0	0	0.000781405	0	0
CR2	1380	broad.mit.edu	37	1	207643212	207643212	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:207643212G>A	ENST00000367057.3	+	6	1179	c.990G>A	c.(988-990)caG>caA	p.Q330Q	CR2_ENST00000367058.3_Silent_p.Q330Q|CR2_ENST00000367059.3_Silent_p.Q330Q|CR2_ENST00000458541.2_Silent_p.Q330Q|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	330	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGATAGTCAGAAGACTGGGA	0.517000													12	17					0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179610653	179610653	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179610653C>T	ENST00000360870.5	-	46	16696	c.16474G>A	c.(16474-16476)Gaa>Aaa	p.E5492K	TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			ACCAATTCTTCCATTAAACTG	0.408000													26	38					0	0	0.00047179	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884881	15884881	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:15884881C>T	ENST00000285670.2	-	5	671	c.497G>A	c.(496-498)gGa>gAa	p.G166E	SAMSN1_ENST00000400566.1_Missense_Mutation_p.G98E|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	98	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGCATTCTCTCCATCTTCCTC	0.428000													32	74					0	0	0.00283554	0	0
MUC17	140453	broad.mit.edu	37	7	100686452	100686452	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:100686452C>T	ENST00000306151.4	+	3	11819	c.11755C>T	c.(11755-11757)Cct>Tct	p.P3919S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3919						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACAATTCCTGTAGCCAC	0.493000													55	111					0	0	0.000781405	0	0
OR9G1	390174	broad.mit.edu	37	11	56468245	56468245	+	Missense_Mutation	SNP	C	C	T	rs139404745		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:56468245C>T	ENST00000312153.1	+	1	382	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CATCTCCAAGCCCCTGCTTTA	0.517000													14	119					0	0	0.000566183	0	0
GMPR	2766	broad.mit.edu	37	6	16254963	16254963	+	Silent	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:16254963T>C	ENST00000259727.4	+	4	576	c.462T>C	c.(460-462)atT>atC	p.I154I		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	154					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AACACACCATTATGGTAAGTA	0.453000													40	59					0	0	0.00285205	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076679	62076679	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:62076679G>A	ENST00000354587.3	-	3	602	c.426C>T	c.(424-426)ttC>ttT	p.F142F	KCNQ2_ENST00000344462.3_Silent_p.F142F|KCNQ2_ENST00000370224.1_Silent_p.F142F|KCNQ2_ENST00000370221.1_Silent_p.F142F|KCNQ2_ENST00000357249.2_Silent_p.F142F|KCNQ2_ENST00000370222.3_Silent_p.F142F|KCNQ2_ENST00000359125.2_Silent_p.F142F|KCNQ2_ENST00000344425.5_Silent_p.F142F|KCNQ2_ENST00000370226.1_Silent_p.F142F|KCNQ2_ENST00000360480.3_Silent_p.F142F|KCNQ2_ENST00000430658.1_Silent_p.F142F|KCNQ2_ENST00000359689.1_Silent_p.F142F			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	142					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGATCCGCACGAAGTACTCCA	0.647000													18	30					0	0	0.00074312	0	0
OR4C15	81309	broad.mit.edu	37	11	55322838	55322838	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:55322838G>A	ENST00000314644.2	+	1	1056	c.1056G>A	c.(1054-1056)agG>agA	p.R352R		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGGCCATGAGGAGAATATGGA	0.333000										HNSCC(20;0.049)			27	19					0	0	0.000586117	0	0
RTN3	10313	broad.mit.edu	37	11	63486692	63486692	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:63486692G>A	ENST00000377819.5	+	3	872	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E128K|RTN3_ENST00000339997.4_Missense_Mutation_p.E221K|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	240					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGATGTTATTGAAAAGGATTC	0.368000													7	50					0	0	0.00198382	0	0
CNOT7	29883	broad.mit.edu	37	8	17094725	17094725	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:17094725G>A	ENST00000361272.4	-	4	767	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	CNOT7_ENST00000523917.1_Missense_Mutation_p.H157Y	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	157					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TTTTACCTATGAAATGACAAC	0.383000													19	67					0	0	0.00188189	0	0
LGR5	8549	broad.mit.edu	37	12	71966646	71966646	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:71966646G>A	ENST00000266674.5	+	13	1464	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	LGR5_ENST00000536515.1_Missense_Mutation_p.E313K|LGR5_ENST00000540815.2_Missense_Mutation_p.E361K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	385						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAGACATAATGAAATCTACGA	0.413000													113	244					0	0	0.000781405	0	0
CDH18	1016	broad.mit.edu	37	5	19503127	19503127	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:19503127G>A	ENST00000507958.1	-	13	2594	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L			Q13634	CAD18_HUMAN	cadherin 18, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P535L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGAAGTTTGGATTTACAGG	0.348000													22	43					0	0	0.00188189	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836076	40836076	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:40836076G>A	ENST00000264638.4	+	3	409	c.192G>A	c.(190-192)cgG>cgA	p.R64R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	64	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGTCACCACGGATTGGGGATC	0.592000													41	43					0	0	0.00195071	0	0
PURG	29942	broad.mit.edu	37	8	30889984	30889984	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:30889984C>T	ENST00000475541.1	-	1	1247	c.315G>A	c.(313-315)ctG>ctA	p.L105L	PURG_ENST00000339382.2_Silent_p.L105L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	105						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGGAGAGGGTCAGTTTACTCT	0.567000													28	60					0	0	0.000878237	0	0
HECTD4	283450	broad.mit.edu	37	12	112654721	112654721	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:112654721G>A	ENST00000550722.1	-	47	7198	c.6803C>T	c.(6802-6804)cCg>cTg	p.P2268L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P1992L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2242L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTAAAAAGACGGGGCCTGAAG	0.473000													32	76					0	0	0.000953801	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774536	100774536	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:100774536G>A	ENST00000323346.5	+	2	472	c.159G>A	c.(157-159)agG>agA	p.R53R	SLC17A8_ENST00000392989.3_Silent_p.R53R	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	53					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AAGAAGGAAGGCCGGTGCAGA	0.502000													61	117					0	0	0.000781405	0	0
ADCK1	57143	broad.mit.edu	37	14	78325425	78325425	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:78325425C>T	ENST00000238561.5	+	4	325	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	83						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCAGGTGCACCTTCGCTCTGC	0.597000													31	90					0	0	0.00058488	0	0
MAN2A1	4124	broad.mit.edu	37	5	109181655	109181655	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:109181655T>G	ENST00000261483.4	+	18	3842	c.2790T>G	c.(2788-2790)caT>caG	p.H930Q		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	930					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATGCCAAACATCGTTTGACAC	0.408000													47	37					0	0	0.000781405	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561156	145561156	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:145561156G>A	ENST00000355594.4	+	10	931	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	282										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCAGAGCCTGAAGAGGAGCA	0.547000													13	36					0	0	0.000308642	0	0
CACNA1G	8913	broad.mit.edu	37	17	48692763	48692763	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:48692763C>T	ENST00000352832.5	+	25	5071	c.4699C>T	c.(4699-4701)Cgg>Tgg	p.R1567W	CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1608W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1556W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1556W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1549W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1544W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1578W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1601W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1567W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1567W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1578W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1560W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1601W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1583W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1601					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCCGCTTCCGGCTCCTCGT	0.622000													19	17					0	0	0.00152264	0	0
PRDM2	7799	broad.mit.edu	37	1	14107476	14107476	+	Silent	SNP	T	T	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:14107476T>G	ENST00000235372.7	+	8	4042	c.3186T>G	c.(3184-3186)tcT>tcG	p.S1062S	PRDM2_ENST00000413440.1_Silent_p.S861S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.S1062S|PRDM2_ENST00000343137.4_Silent_p.S861S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1062	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		cctcctcctcttcgttttctt	0.537000													9	18					0	0	0.000274275	0	0
TRAV5	28688	broad.mit.edu	37	14	22217758	22217758	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:22217758G>A	ENST00000390427.3	+	0	121																											CCGAGAGGGAGACAGCTCCGT	0.473000													14	18					0	0	0.00244969	0	0
PRKACG	5568	broad.mit.edu	37	9	71628516	71628516	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:71628516G>A	ENST00000377276.2	-	1	523	c.493C>T	c.(493-495)Cac>Tac	p.H165Y		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	165	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGTCGCGGTGGATGAGGTCG	0.632000													7	11					0	0	0.000157383	0	0
SYT15	83849	broad.mit.edu	37	10	46968679	46968679	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:46968679C>T	ENST00000374323.3	-	2	1003	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	SYT15_ENST00000503753.1_Missense_Mutation_p.R86Q|SYT15_ENST00000374325.3_Missense_Mutation_p.R86Q|SYT15_ENST00000374321.4_Missense_Mutation_p.R86Q			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	86						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CACCCAATCTCGGCCTTGAAG	0.632000													13	42					0	0	0.00244969	0	0
MS4A8	83661	broad.mit.edu	37	11	60470919	60470919	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:60470919G>A	ENST00000300226.2	+	3	491	c.288G>A	c.(286-288)ggG>ggA	p.G96G		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		TTCTCGTAGGGGAATACCTGT	0.552000													15	109					0	0	0.00074312	0	0
STAB1	23166	broad.mit.edu	37	3	52554934	52554934	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:52554934G>A	ENST00000321725.6	+	55	5897	c.5821G>A	c.(5821-5823)Ggc>Agc	p.G1941S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1941					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TAGGCCCCAAGGCCTGGGCAG	0.632000													38	26					0	0	0.000692331	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713056	32713056	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:32713056T>C	ENST00000374940.3	+	2	305	c.203T>C	c.(202-204)gTc>gCc	p.V68A		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	68	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAGAGACTGTCTGGCAGTTG	0.468000													25	65					0	0	0.000586117	0	0
CAPN13	92291	broad.mit.edu	37	2	30985998	30985998	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:30985998C>T	ENST00000295055.8	-	7	900	c.724G>A	c.(724-726)Gag>Aag	p.E242K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E242K|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	242	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGCCCATTCTCCATCGCCTGT	0.517000													10	5					0	0	0.00185496	0	0
AFF2	2334	broad.mit.edu	37	X	148044401	148044401	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:148044401C>T	ENST00000370460.2	+	13	3326	c.2847C>T	c.(2845-2847)atC>atT	p.I949I	AFF2_ENST00000370457.5_Silent_p.I916I|AFF2_ENST00000286437.5_Silent_p.I590I|AFF2_ENST00000342251.3_Silent_p.I916I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	949					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACAAATCACATCTACCA	0.433000													19	39					0	0	0.00229938	0	0
HARS2	23438	broad.mit.edu	37	5	140076761	140076761	+	Missense_Mutation	SNP	C	C	T	rs75387627		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140076761C>T	ENST00000230771.3	+	10	1190	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	HARS2_ENST00000435019.2_Missense_Mutation_p.L283F|HARS2_ENST00000432671.2_Missense_Mutation_p.L209F|HARS2_ENST00000437649.2_Missense_Mutation_p.L249F|HARS2_ENST00000448069.2_Missense_Mutation_p.L151F|HARS2_ENST00000508522.1_Missense_Mutation_p.L298F	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	323					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTTTGACCTCAGCCTGGC	0.557000													39	50					0	0	0.00170553	0	0
DMD	1756	broad.mit.edu	37	X	32328381	32328381	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:32328381C>T	ENST00000357033.4	-	42	6141	c.5935G>A	c.(5935-5937)Gaa>Aaa	p.E1979K	DMD_ENST00000378677.2_Missense_Mutation_p.E1975K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1979					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1979K(1)|p.E1975K(1)|p.E638K(1)|p.E1974K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCGTTTCTTCACGGACAGTG	0.368000													4	17					0	0	0.00024832	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696822	153696822	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:153696822G>A	ENST00000369682.3	+	23	4315	c.4140G>A	c.(4138-4140)acG>acA	p.T1380T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1380					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTATGCCACGGGGCTGCTCA	0.647000													13	39					0	0	0.00185496	0	0
CFHR5	81494	broad.mit.edu	37	1	196964856	196964856	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:196964856G>A	ENST00000367414.5	+	5	745	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	CFHR5_ENST00000256785.4_Missense_Mutation_p.R206Q	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	206	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGACAAGTACGATCATGTGGT	0.323000													35	71					0	0	0.00128727	0	0
RPUSD1	113000	broad.mit.edu	37	16	836346	836346	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:836346A>C	ENST00000561734.1	-	5	786	c.543T>G	c.(541-543)agT>agG	p.S181R	RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Missense_Mutation_p.S52R|RPUSD1_ENST00000007264.2_Missense_Mutation_p.S181R			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	181					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGCCCAGGGCACTGCAGTGCA	0.677000													20	19					0	0	0.00229938	0	0
AFP	174	broad.mit.edu	37	4	74309109	74309109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:74309109C>T	ENST00000395792.2	+	6	761	c.661C>T	c.(661-663)Caa>Taa	p.Q221*	AFP_ENST00000226359.2_Nonsense_Mutation_p.Q221*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	221	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGTTAAATCAACATGCATG	0.368000									Alpha-Fetoprotein, Hereditary Persistence of				15	50					0	0	0.000566183	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621901	99621901	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:99621901C>T	ENST00000324306.6	+	3	785	c.551C>T	c.(550-552)tCt>tTt	p.S184F	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S148F	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	184					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAACATTCGTCTCGGAAACCC	0.532000													24	30					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179437859	179437859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179437859C>T	ENST00000589042.1	-	326	73224	c.73000G>A	c.(73000-73002)Gat>Aat	p.D24334N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D22693N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D15461N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15394N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21766N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15269N|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22693	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D15461H(1)|p.D21766H(1)|p.D15394H(1)|p.D15269H(1)|p.D21764H(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)			CTGCTTGTATCCAGAACACGT	0.448000													13	40					0	0	0.00185496	0	0
KCNIP4	80333	broad.mit.edu	37	4	21305511	21305511	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:21305511C>T	ENST00000382150.4	-	1	101	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382152.2_Intron	NM_147183.3	NP_671712.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	p.E7K(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GCTATCATTTCAAGCCCTTCC	0.433000													24	16					0	0	0.000720815	0	0
OR4C3	256144	broad.mit.edu	37	11	48346900	48346900	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:48346900G>A	ENST00000319856.4	+	1	429	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGGTGTTGAGATCATTCTGC	0.483000													51	191					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13737604	13737604	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:13737604C>T	ENST00000265104.4	-	66	11316	c.11211_splice	c.e66-1	p.E3738_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3738	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTCCAATTCCTATTAATTT	0.358000									Kartagener syndrome				18	24					0	0	0.000958276	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663984	72663984	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:72663984C>T	ENST00000425256.1	-	0	916					NR_002164.1																						GAACTGATTTCCAGATAGCCG	0.493000													23	46					0	0	0.00283554	0	0
ADCY2	108	broad.mit.edu	37	5	7414758	7414758	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:7414758C>T	ENST00000338316.4	+	2	372	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	95					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GATATTTATCCTGGTCTGCAT	0.433000													19	119					0	0	0.000958276	0	0
NFASC	23114	broad.mit.edu	37	1	204946814	204946814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:204946814C>T	ENST00000367172.4	+	17	2165	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	NFASC_ENST00000367170.4_Nonsense_Mutation_p.Q613*|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Nonsense_Mutation_p.Q613*|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Nonsense_Mutation_p.Q613*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.Q613*|NFASC_ENST00000401399.1_Nonsense_Mutation_p.Q613*|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Nonsense_Mutation_p.Q613*			O94856	NFASC_HUMAN	neurofascin	613					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCAGCTGATCAGGCCACTCC	0.537000													10	24					0	0	0.000978159	0	0
MDM2	4193	broad.mit.edu	37	12	69207352	69207352	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:69207352C>T	ENST00000462284.1	+	3	420	c.118C>T	c.(118-120)Ctt>Ttt	p.L40F	MDM2_ENST00000393413.3_Intron|MDM2_ENST00000356290.4_Missense_Mutation_p.L34F|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000393410.1_Missense_Mutation_p.L34F|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000350057.5_Intron|MDM2_ENST00000517852.1_Missense_Mutation_p.L34F|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.L34F|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Missense_Mutation_p.L34F|MDM2_ENST00000258149.5_Missense_Mutation_p.L34F|MDM2_ENST00000258148.7_Missense_Mutation_p.L40F|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000478070.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	34	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AAAGCCATTGCTTTTGAAGTT	0.348000			A		"""sarcoma, glioma, colorectal, other"""								57	117					0	0	0.000781405	0	0
H6PD	9563	broad.mit.edu	37	1	9322191	9322191	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:9322191C>T	ENST00000377403.2	+	4	1121	c.819C>T	c.(817-819)acC>acT	p.T273T	H6PD_ENST00000602477.1_Silent_p.T284T	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	273	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AGGTCCTCACCCTCGTGGCCA	0.642000													16	30					0	0	0.00074312	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745354	135745354	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:135745354T>C	ENST00000375845.3	-	7	1118	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S	MAP3K19_ENST00000358371.4_Missense_Mutation_p.N250S|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.N380S|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATATTGAGAGTTCTCTTCTTC	0.378000													27	58					0	0	0.000720815	0	0
THSD7B	80731	broad.mit.edu	37	2	138421075	138421075	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:138421075G>A	ENST00000409968.1	+	26	4759	c.4581G>A	c.(4579-4581)ggG>ggA	p.G1527G	THSD7B_ENST00000413152.2_Silent_p.G1499G|THSD7B_ENST00000272643.3_Silent_p.G1530G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACCTTTCTGGGAAAAACAGAC	0.363000													3	12					0	0	6.4e-05	0	0
C1orf94	84970	broad.mit.edu	37	1	34663240	34663240	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:34663240G>A	ENST00000488417.1	+	2	855	c.735G>A	c.(733-735)ctG>ctA	p.L245L	C1orf94_ENST00000373374.3_Silent_p.L55L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	55							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTTCCCACTGAAGTCCACTG	0.562000													26	34					0	0	0.00127121	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576309	158576309	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:158576309C>T	ENST00000361284.1	+	1	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTCCTTCTCTTTGCCTTGT	0.507000													31	73					0	0	0.00127121	0	0
MACF1	23499	broad.mit.edu	37	1	39753029	39753029	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:39753029T>C	ENST00000564288.1	+	15	2357	c.1580T>C	c.(1579-1581)tTc>tCc	p.F527S	MACF1_ENST00000539005.1_Missense_Mutation_p.F532S|MACF1_ENST00000567887.1_Missense_Mutation_p.F564S|MACF1_ENST00000361689.2_Missense_Mutation_p.F532S|MACF1_ENST00000372915.3_Missense_Mutation_p.F532S|MACF1_ENST00000545844.1_Missense_Mutation_p.F532S|MACF1_ENST00000317713.7_Missense_Mutation_p.F532S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	532					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGGGTCATTTCACTTCACTT	0.463000													54	139					0	0	0.000781405	0	0
DNAJC16	23341	broad.mit.edu	37	1	15890475	15890475	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:15890475C>T	ENST00000375847.3	+	10	1554	c.1390C>T	c.(1390-1392)Ctg>Ttg	p.L464L	DNAJC16_ENST00000375849.1_Silent_p.L464L|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375838.1_Silent_p.L464L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	464					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.L464M(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GTATAAAACCCTGGAAGACCC	0.443000													95	144					0	0	0.000781405	0	0
FAM57B	83723	broad.mit.edu	37	16	30037138	30037138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:30037138C>T	ENST00000380495.4	-	4	1180	c.449G>A	c.(448-450)tGg>tAg	p.W150*	FAM57B_ENST00000564806.1_Nonsense_Mutation_p.W100*|FAM57B_ENST00000279389.4_Nonsense_Mutation_p.W100*	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	150	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACCCTGTCGCCACACCTGGGC	0.597000													47	67					0	0	0.0025221	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021085	142021085	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:142021085G>A	ENST00000390381.3	+	0	374																											GTAAAGGCTGGAGTCACTCAA	0.532000													5	41					0	0	0.00198382	0	0
ANKRD44	91526	broad.mit.edu	37	2	197943503	197943503	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:197943503G>A	ENST00000328737.2	-	16	1575	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L	ANKRD44_ENST00000409153.1_Missense_Mutation_p.P525L|ANKRD44_ENST00000337207.5_Missense_Mutation_p.P500L|ANKRD44_ENST00000450567.1_Missense_Mutation_p.P500L|ANKRD44_ENST00000539527.1_Missense_Mutation_p.P453L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.P517L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	525							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCGGATAGATGGATTTGCATC	0.368000													16	41					0	0	0.00188189	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926650	157926650	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:157926650C>T	ENST00000389413.3	-	9	1378	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	PTPRN2_ENST00000404321.2_Silent_p.R448R|PTPRN2_ENST00000389418.4_Silent_p.R425R|PTPRN2_ENST00000389416.4_Silent_p.R408R|PTPRN2_ENST00000409483.1_Silent_p.R387R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	425						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGGACTTCTTCCTCTCCATGT	0.597000													72	79					0	0	0.000781405	0	0
ABCC10	89845	broad.mit.edu	37	6	43406504	43406504	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:43406504G>A	ENST00000244533.3	+	6	2373	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	ABCC10_ENST00000372530.4_Missense_Mutation_p.E700K	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	700	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAGGTGCTAGAAGCCTGCGC	0.547000													30	52					0	0	0.00283554	0	0
SYNE3	161176	broad.mit.edu	37	14	95899695	95899695	+	Missense_Mutation	SNP	G	G	A	rs141951711		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:95899695G>A	ENST00000334258.5	-	15	2604	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	SYNE3_ENST00000557275.1_Missense_Mutation_p.R859C|SYNE3_ENST00000554873.1_Missense_Mutation_p.R621C	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GGCCCGAGACGAAGGAGGTTC	0.597000													33	78					0	0	0.000692331	0	0
PKD1L2	114780	broad.mit.edu	37	16	81175102	81175102	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:81175102C>T	ENST00000525539.1	-	0	5216				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACTCCGTGCCGCCTTGGGCT	0.577000													6	8					0	0	0.00198382	0	0
DOCK11	139818	broad.mit.edu	37	X	117814593	117814593	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:117814593C>T	ENST00000276204.6	+	49	5683	c.5609C>T	c.(5608-5610)aCt>aTt	p.T1870I	DOCK11_ENST00000276202.7_Missense_Mutation_p.T1870I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1870	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCCCTTACACTTTATCAGGC	0.353000													66	146					0	0	0.000781405	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998608	46998608	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:46998608G>A	ENST00000599531.1	-	1	1147	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000377655.2_Silent_p.L39L	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	39										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gtcggctgcaggacggcttcg	0.662000													38	50					0	0	0.00148497	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:14880876C>T	ENST00000403951.2	-	2	432	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_ENST00000406247.3_Missense_Mutation_p.E5K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E5K|DGKB_ENST00000402815.1_Missense_Mutation_p.E5K|DGKB_ENST00000444700.2_Missense_Mutation_p.E5K|DGKB_ENST00000399322.3_Missense_Mutation_p.E5K|DGKB_ENST00000407950.1_Missense_Mutation_p.E5K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	5					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCATTTTTCCTGGTTTGTC	0.403000													8	21					0	0	0.000274275	0	0
PKP1	5317	broad.mit.edu	37	1	201294148	201294148	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:201294148C>T	ENST00000263946.3	+	12	2228	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	PKP1_ENST00000367324.3_Silent_p.S638S|PKP1_ENST00000352845.3_Silent_p.S659S	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	659					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ACATCTTGTCCTCGGCCTGCT	0.577000													71	126					0	0	0.000781405	0	0
SPEG	10290	broad.mit.edu	37	2	220356966	220356966	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:220356966C>T	ENST00000312358.7	+	40	9727	c.9595C>T	c.(9595-9597)Ctc>Ttc	p.L3199F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3199	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGAAAGGTTCTCTCTGTACA	0.617000													16	40					0	0	0.000566183	0	0
UVSSA	57654	broad.mit.edu	37	4	1347001	1347001	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:1347001C>T	ENST00000389851.4	+	5	1181	c.734C>T	c.(733-735)cCc>cTc	p.P245L	UVSSA_ENST00000507531.1_Missense_Mutation_p.P245L|UVSSA_ENST00000511216.1_Missense_Mutation_p.P245L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	245																	ACCCCTGACCCCCGGGACGGG	0.711000													9	9					0	0	0.000442599	0	0
BMPER	168667	broad.mit.edu	37	7	34192725	34192725	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:34192725C>T	ENST00000297161.2	+	16	2272	c.1898C>T	c.(1897-1899)gCt>gTt	p.A633V	BMPER_ENST00000426693.1_Missense_Mutation_p.A633V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	633	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGCATGGTGCTGTGTACGAT	0.507000													47	58					0	0	0.000781405	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490959	73490959	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:73490959C>T	ENST00000556143.1	-	2	978	c.258G>A	c.(256-258)caG>caA	p.Q86Q	ZFYVE1_ENST00000318876.5_Silent_p.Q86Q|ZFYVE1_ENST00000553891.1_Silent_p.Q86Q	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	86						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CTATTGCCCTCTGCCTAACAC	0.517000													81	144					0	0	0.000781405	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	293					0	0	0.00116845	0	0
MEGF8	1954	broad.mit.edu	37	19	42839497	42839497	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:42839497C>T	ENST00000334370.4	+	5	1423	c.788C>T	c.(787-789)tCc>tTc	p.S263F	MEGF8_ENST00000251268.6_Missense_Mutation_p.S263F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	263						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TACAACTTCTCCGCCAACACC	0.627000													24	65					0	0	0.00106085	0	0
NFATC3	4775	broad.mit.edu	37	16	68156318	68156318	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:68156318G>A	ENST00000349223.5	+	2	756	c.532G>A	c.(532-534)Gat>Aat	p.D178N	NFATC3_ENST00000346183.3_Missense_Mutation_p.D178N|NFATC3_ENST00000329524.4_Missense_Mutation_p.D178N|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.D178N	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	178					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTGGTTCTCTGATGCATCTTC	0.463000													34	36					0	0	0.00283554	0	0
CHIA	27159	broad.mit.edu	37	1	111862065	111862065	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:111862065G>A	ENST00000369740.1	+	11	1255	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	CHIA_ENST00000451398.2_Silent_p.K223K|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Silent_p.K384K|CHIA_ENST00000353665.6_Silent_p.K223K|CHIA_ENST00000430615.1_Silent_p.K276K|CHIA_ENST00000483391.1_Silent_p.K223K	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	384					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CCACCCTGAAGAAGGCCCTCG	0.517000													16	45					0	0	0.000958276	0	0
OR4C46	119749	broad.mit.edu	37	11	51515428	51515428	+	Silent	SNP	C	C	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:51515428C>A	ENST00000328188.1	+	1	147	c.147C>A	c.(145-147)gcC>gcA	p.A49A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATCACTGCCAGCCCATCAC	0.448000													13	151					6.72482e-11	3.39147e-10	0.000308642	1	0
USP25	29761	broad.mit.edu	37	21	17163931	17163931	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:17163931C>T	ENST00000285681.2	+	5	872	c.503C>T	c.(502-504)cCc>cTc	p.P168L	USP25_ENST00000351097.5_Missense_Mutation_p.P168L|USP25_ENST00000285679.6_Missense_Mutation_p.P168L|USP25_ENST00000400183.2_Missense_Mutation_p.P168L|USP25_ENST00000547201.1_3'UTR			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	168					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GACAAAGCTCCCGTTGGGCTA	0.393000													27	43					0	0	0.000878237	0	0
LAMA2	3908	broad.mit.edu	37	6	129759851	129759851	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:129759851G>A	ENST00000421865.2	+	42	6078	c.6029G>A	c.(6028-6030)gGg>gAg	p.G2010E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2010	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTAGAAATGGGGATCTCTTG	0.348000													26	49					0	0	0.001512	0	0
GRM3	2913	broad.mit.edu	37	7	86468876	86468876	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:86468876C>T	ENST00000361669.2	+	4	3145	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.F274F|GRM3_ENST00000536043.1_Silent_p.F554F|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	682					synaptic transmission	integral to plasma membrane		p.F682L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGCCAAAATTCATCAGCCCCA	0.542000													21	51					0	0	0.00121646	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064139	106064139	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:106064139G>A	ENST00000357242.5	+	3	448	c.274G>A	c.(274-276)Gat>Aat	p.D92N	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92N|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92N|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	92						intracellular	calcium ion binding|Rab GTPase activator activity	p.D92Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGCATTGGGATTGGTTGGA	0.308000													21	65					0	0	0.00229938	0	0
PRKDC	5591	broad.mit.edu	37	8	48855781	48855781	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:48855781G>A	ENST00000314191.2	-	10	1010	c.954C>T	c.(952-954)tcC>tcT	p.S318S	PRKDC_ENST00000338368.3_Silent_p.S318S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	318					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTCAGAAAGGATTCCAGGG	0.368000								Non-homologous end-joining					10	24					0	0	0.00136819	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	46					0	0	0.00198382	0	0
SNTG1	54212	broad.mit.edu	37	8	51314860	51314860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:51314860G>T	ENST00000522124.1	+	4	779	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	SNTG1_ENST00000517473.1_Nonsense_Mutation_p.E40*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.E40*|SNTG1_ENST00000276467.5_Nonsense_Mutation_p.E40*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	40					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATGATCCAGGAACAGGATGT	0.383000													35	77					6.97489e-18	3.54677e-17	0.000953801	1	0
OR4K17	390436	broad.mit.edu	37	14	20585753	20585753	+	Missense_Mutation	SNP	C	C	T	rs150087607		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:20585753C>T	ENST00000315543.4	+	1	188	c.188C>T	c.(187-189)tCg>tTg	p.S63L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCCCTCTTCTCGGTTATCTAT	0.408000													62	187					0	0	0.000781405	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746778	77746778	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:77746778T>C	ENST00000409088.3	-	3	631	c.217A>G	c.(217-219)Att>Gtt	p.I73V	LRRTM4_ENST00000409911.1_Missense_Mutation_p.I74V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.I73V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.I74V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.I73V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	73						integral to membrane				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)		AGCTTCTGAATGCTGTTGAAC	0.408000													14	45					0	0	0.000422831	0	0
TACC1	6867	broad.mit.edu	37	8	38677043	38677043	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:38677043C>T	ENST00000379931.3	+	3	660	c.281C>T	c.(280-282)tCa>tTa	p.S94L	TACC1_ENST00000520340.1_Missense_Mutation_p.S58L|TACC1_ENST00000317827.4_Missense_Mutation_p.S94L|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.S110L|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.S49L|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000522752.1_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	94					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATTTTAGAATCACAAGAAGCT	0.348000													9	20					0	0	0.000274275	0	0
ANXA2	302	broad.mit.edu	37	15	60646354	60646354	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:60646354C>T	ENST00000396024.3	-	9	746	c.588_splice	c.e9+1	p.R196_splice	ANXA2_ENST00000451270.2_Splice_Site_p.R196_splice|ANXA2_ENST00000421017.2_Splice_Site_p.R196_splice|ANXA2_ENST00000332680.4_Splice_Site_p.R214_splice	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	196					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	AGCACTTACCCGAGCATCTTG	0.383000													14	8					0	0	0.000308642	0	0
SETD2	29072	broad.mit.edu	37	3	47162509	47162509	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:47162509G>A	ENST00000409792.3	-	3	3659	c.3617C>T	c.(3616-3618)tCt>tTt	p.S1206F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAAATCAGAAGAATAAATTGG	0.418000			"""N, F, S, Mis"""		clear cell renal carcinoma								36	45					0	0	0.00058488	0	0
KIF26B	55083	broad.mit.edu	37	1	245849121	245849121	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:245849121C>T	ENST00000366518.4	+	9	1797	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	KIF26B_ENST00000407071.2_Missense_Mutation_p.P946S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	946	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCAGCTTTCCTTTCGAAGA	0.602000													9	20					0	0	0.000673444	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398619	57398619	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:57398619G>A	ENST00000300101.2	-	2	168	c.83C>T	c.(82-84)aCc>aTc	p.T28I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTCGCACATGGTCTCTGAGAG	0.562000													51	90					0	0	0.000781405	0	0
LEPR	3953	broad.mit.edu	37	1	66058373	66058373	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:66058373C>T	ENST00000349533.6	+	6	713	c.528C>T	c.(526-528)ccC>ccT	p.P176P	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.P176P|LEPR_ENST00000371059.3_Silent_p.P176P|LEPR_ENST00000371060.3_Silent_p.P176P|LEPR_ENST00000344610.8_Silent_p.P176P	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	176					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCTGGTTCCCCAAAAAGGCA	0.393000													11	28					0	0	0.000978159	0	0
DSG3	1830	broad.mit.edu	37	18	29046501	29046501	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:29046501G>A	ENST00000257189.4	+	11	1503	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	474	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAATACACGGGTAAAACTTC	0.358000													31	75					0	0	0.00209593	0	0
CDHR1	92211	broad.mit.edu	37	10	85972965	85972965	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:85972965C>T	ENST00000372117.3	+	16	2004	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S634F|CDHR1_ENST00000440770.2_Missense_Mutation_p.S338F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	634	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTCAAGAATTCCATCCGCTCC	0.587000													32	42					0	0	0.00058488	0	0
DEF6	50619	broad.mit.edu	37	6	35280207	35280207	+	Silent	SNP	C	C	T	rs146706360		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:35280207C>T	ENST00000316637.5	+	4	557	c.552C>T	c.(550-552)ttC>ttT	p.F184F	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	184						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TCTGGCAGTTCCTGGAGCTCT	0.662000													25	73					0	0	0.000586117	0	0
RXFP2	122042	broad.mit.edu	37	13	32367120	32367120	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:32367120G>A	ENST00000298386.2	+	16	1752	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	RXFP2_ENST00000380314.1_Missense_Mutation_p.D537N	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	561						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGGAATAAGGATTATTTTGG	0.368000													14	48					0	0	0.00185496	0	0
TMEM43	79188	broad.mit.edu	37	3	14174406	14174406	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:14174406C>T	ENST00000306077.4	+	6	737	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	161						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GCAAAAACTTCGACCGAGAGA	0.547000													17	14					0	0	0.000566183	0	0
DNMT3L	29947	broad.mit.edu	37	21	45678547	45678547	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:45678547C>T	ENST00000270172.3	-	6	858	c.375G>A	c.(373-375)ctG>ctA	p.L125L	DNMT3L_ENST00000418993.1_Silent_p.L125L	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	125	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CGGGGCCGACCAGGCTATCCA	0.637000													12	34					0	0	0.00185496	0	0
SRRM2	23524	broad.mit.edu	37	16	2814310	2814310	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:2814310A>G	ENST00000301740.8	+	11	4330	c.3781A>G	c.(3781-3783)Aaa>Gaa	p.K1261E		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1261	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCAGAACTTAAAGAAATGTC	0.443000													80	69					0	0	0.000781405	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615806	140615806	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140615806C>T	ENST00000526308.1	+	0	1869					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACTCGCCCTTCGTGCTGTACC	0.716000													18	22					0	0	0.00229938	0	0
TRIM71	131405	broad.mit.edu	37	3	32859584	32859584	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:32859584C>T	ENST00000383763.4	+	1	75	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	4					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGCTTCGTTCCCCGAGACCG	0.647000													13	14					0	0	0.00185496	0	0
LILRB3	11025	broad.mit.edu	37	19	54724986	54724986	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:54724986G>A	ENST00000391750.1	-	6	1060	c.924C>T	c.(922-924)gcC>gcT	p.A308A	LILRB3_ENST00000424807.1_Silent_p.A308A|LILRA6_ENST00000270464.5_Silent_p.A308A|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000346401.6_Silent_p.A308A|LILRB3_ENST00000245620.9_Silent_p.A308A|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Silent_p.A308A|LILRA6_ENST00000440558.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	308	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCGCTGGGGGCCGACCACT	0.682000													17	12					0	0	0.00152264	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161105	123161105	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:123161105C>A	ENST00000264501.4	+	29	4641	c.4268C>A	c.(4267-4269)aCc>aAc	p.T1423N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T1423N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T1423N			Q2LD37	K1109_HUMAN	KIAA1109	1423					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAAGCAAACCCAGCAGATT	0.453000													15	19					0.000422831	0.00211935	0.000422831	1	0
PRKX	5613	broad.mit.edu	37	X	3530319	3530319	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:3530319G>A	ENST00000262848.5	-	8	1353	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	333	AGC-kinase C-terminal.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGTAAGTTTCGAAGTTGGAAG	0.527000													14	29					0	0	0.000308642	0	0
ERMAP	114625	broad.mit.edu	37	1	43296721	43296721	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:43296721C>G	ENST00000328249.3	+	1	1136	c.98C>G	c.(97-99)tCt>tGt	p.S33C	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372517.2_Missense_Mutation_p.S123C|ERMAP_ENST00000372514.3_Missense_Mutation_p.S123C			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	123	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACCAAGGGTCTTACCGATGT	0.522000													15	33					0	0	0.000422831	0	0
SYCP1	6847	broad.mit.edu	37	1	115454127	115454127	+	Silent	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:115454127T>C	ENST00000369522.3	+	18	1693	c.1453T>C	c.(1453-1455)Tta>Cta	p.L485L	SYCP1_ENST00000369518.1_Silent_p.L485L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	485				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAATACAGTTAACTGCCAT	0.294000													10	35					0	0	0.00136819	0	0
SCML2	10389	broad.mit.edu	37	X	18264805	18264805	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:18264805C>T	ENST00000251900.4	-	13	1873	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	SCML2_ENST00000398048.3_Missense_Mutation_p.D308N	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	572					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CGAGAAAAATCCTGGGAGACT	0.413000													39	91					0	0	0.00148497	0	0
IL10RB	3588	broad.mit.edu	37	21	34655546	34655546	+	Splice_Site	SNP	G	G	A	rs45469692		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:34655546G>A	ENST00000290200.2	+	5	754	c.646_splice	c.e5+1	p.E216_splice		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						AACCCATGACGGTAAGCCCTG	0.483000													22	55					0	0	0.00188189	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867838	45867838	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:45867838G>A	ENST00000311275.7	-	15	2522	c.2269C>T	c.(2269-2271)Ccc>Tcc	p.P757S	ZMYND8_ENST00000446994.2_Missense_Mutation_p.P694S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P777S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P757S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P784S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P757S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P705S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P752S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P752S|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P777S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P757S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P777S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	757							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTTTCCGGGGGAGAATGGCTG	0.582000													33	90					0	0	0.00148497	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811930	25811930	+	Silent	SNP	T	T	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:25811930T>G	ENST00000244527.4	-	9	1081	c.966A>C	c.(964-966)tcA>tcC	p.S322S	SLC17A1_ENST00000468082.1_Silent_p.S268S|SLC17A1_ENST00000476801.1_Silent_p.S322S|SLC17A1_ENST00000427328.1_Silent_p.S268S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	322					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GGAAGAAGTCTGATAACTGAC	0.448000													17	41					0	0	0.00074312	0	0
TPTE	7179	broad.mit.edu	37	21	10934106	10934106	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:10934106C>T	ENST00000298232.7	-	15	1184	c.817G>A	c.(817-819)Gat>Aat	p.D273N	TPTE_ENST00000342420.5_Missense_Mutation_p.D253N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D291N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	291	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D291Y(2)|p.D273Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TGCTTAGGATCGTAAGCTCTT	0.308000													24	221					0	0	0.000586117	0	0
DNAH5	1767	broad.mit.edu	37	5	13753548	13753548	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:13753548G>A	ENST00000265104.4	-	63	10770	c.10666C>T	c.(10666-10668)Cca>Tca	p.P3556S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3556					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCCAAATGGAATTTTCCGG	0.403000									Kartagener syndrome				29	111					0	0	0.00127121	0	0
EVL	51466	broad.mit.edu	37	14	100604194	100604194	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:100604194C>T	ENST00000544450.2	+	11	1444	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	EVL_ENST00000402714.2_Intron|EVL_ENST00000392920.3_Intron			Q9UI08	EVL_HUMAN	Enah/Vasp-like	191	EVH2 block C.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTCCTCTGTCCCCCGTCCCGT	0.592000													19	18					0	0	0.00121646	0	0
PIAS2	9063	broad.mit.edu	37	18	44426691	44426691	+	Silent	SNP	A	A	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:44426691A>C	ENST00000585916.1	-	6	839	c.840T>G	c.(838-840)tcT>tcG	p.S280S	PIAS2_ENST00000324794.7_Silent_p.S280S|PIAS2_ENST00000545673.1_5'UTR	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	280	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTGATGCCCAAGAAATGGAAA	0.448000													24	73					0	0	0.00278032	0	0
NKAPL	222698	broad.mit.edu	37	6	28227309	28227309	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:28227309C>T	ENST00000343684.3	+	1	212	c.160C>T	c.(160-162)Cct>Tct	p.P54S		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	54										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCTCAGGCCTCCTTGGAGTGA	0.652000													22	52					0	0	0.00278032	0	0
APLF	200558	broad.mit.edu	37	2	68753283	68753283	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:68753283C>T	ENST00000303795.4	+	6	884	c.713C>T	c.(712-714)tCa>tTa	p.S238L		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	238					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAATTAATTTCATCAGGAAGT	0.378000													8	64					0	0	0.000442599	0	0
PCDH15	65217	broad.mit.edu	37	10	55826552	55826552	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:55826552C>T	ENST00000373965.2	-	19	2600	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	PCDH15_ENST00000437009.1_Missense_Mutation_p.E658K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E734K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E729K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E692K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E729K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E707K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E340K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E729K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E707K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E729K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E736K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E729K|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	729	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTTCTTCTTCCACCACAGAT	0.348000										HNSCC(58;0.16)			26	22					0	0	0.000586117	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													5	174					0	0	0.000602214	0	0
CACNA1D	776	broad.mit.edu	37	3	53707811	53707811	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:53707811C>T	ENST00000288139.3	+	8	1306	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	CACNA1D_ENST00000350061.5_Intron|CACNA1D_ENST00000498251.1_Intron|CACNA1D_ENST00000422281.2_Intron	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	396					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCTCATTTTTCGTCCTTAACC	0.473000													23	36					0	0	0.001512	0	0
TTF1	7270	broad.mit.edu	37	9	135277771	135277771	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:135277771C>T	ENST00000334270.2	-	2	477	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	146	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAGCAAGTACCTGAAATTTGT	0.383000													41	73					0	0	0.00128727	0	0
TRAV16	28667	broad.mit.edu	37	14	22459004	22459004	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:22459004C>T	ENST00000390444.1	+	0	156																											GTCCTGAACTCTTCTGGTATG	0.512000													7	17					0	0	0.00198382	0	0
ROS1	6098	broad.mit.edu	37	6	117724339	117724339	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:117724339G>A	ENST00000368508.3	-	6	738	c.540C>T	c.(538-540)tcC>tcT	p.S180S	ROS1_ENST00000368507.3_Silent_p.S189S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	180	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACTTGGAGGGGAGTAGAGCT	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								28	65					0	0	0.001512	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	95					0	0	0.000680045	0	0
OR1F1	4992	broad.mit.edu	37	16	3254567	3254567	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:3254567C>T	ENST00000304646.2	+	1	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTTCATGTTCGTGGACATGG	0.502000													59	66					0	0	0.000781405	0	0
FHOD3	80206	broad.mit.edu	37	18	34081944	34081944	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:34081944C>T	ENST00000257209.4	+	4	509	c.387C>T	c.(385-387)tcC>tcT	p.S129S	FHOD3_ENST00000359247.4_Silent_p.S129S|FHOD3_ENST00000445677.1_Silent_p.S129S|FHOD3_ENST00000590592.1_Silent_p.S129S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCCTCTTCTCCCTGAAGCAGA	0.338000													5	8					0	0	0.000157383	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432572	104432572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:104432572G>A	ENST00000361820.3	-	3	2722	c.2122C>T	c.(2122-2124)Cga>Tga	p.R708*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	708					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTCTATTTCGCCCCTTGGGA	0.468000													19	62					0	0	0.00229938	0	0
KANK1	23189	broad.mit.edu	37	9	711620	711620	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:711620C>T	ENST00000382303.1	+	7	1506	c.854C>T	c.(853-855)cCt>cTt	p.P285L	KANK1_ENST00000382293.3_Missense_Mutation_p.P127L|KANK1_ENST00000382297.2_Missense_Mutation_p.P285L|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	285					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CGAACCATCCCTGTGCTCCAG	0.542000													26	33					0	0	0.00106085	0	0
CACNA1F	778	broad.mit.edu	37	X	49069183	49069183	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:49069183G>A	ENST00000376265.2	-	33	3980	c.3919C>T	c.(3919-3921)Ctc>Ttc	p.L1307F	CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1296F|CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1242F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1307					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCCTTACTGAGAAGCTTGACC	0.542000													15	24					0	0	0.000422831	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627368	43627368	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:43627368A>G	ENST00000332857.6	-	4	1347	c.1319T>C	c.(1318-1320)tTa>tCa	p.L440S		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AGGAGACTGTAAAGTATAAGA	0.502000													92	151					0	0	0.000781405	0	0
ABCC12	94160	broad.mit.edu	37	16	48177954	48177954	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:48177954C>T	ENST00000311303.3	-	2	487	c.142G>A	c.(142-144)Gat>Aat	p.D48N	ABCC12_ENST00000416054.1_Missense_Mutation_p.D48N|ABCC12_ENST00000448542.1_Missense_Mutation_p.D48N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	48						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGCCCGGCATCATCCACCGGG	0.567000													13	28					0	0	0.000422831	0	0
LOXL2	4017	broad.mit.edu	37	8	23174479	23174479	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:23174479C>T	ENST00000389131.3	-	9	1988	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	540	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCAGGCAACTCCGGCCCCGTA	0.662000													10	25					0	0	0.000673444	0	0
PRSS37	136242	broad.mit.edu	37	7	141536257	141536257	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:141536257C>T	ENST00000350549.3	-	5	1017	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	PRSS37_ENST00000438520.1_Missense_Mutation_p.G216S	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	216	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGTAGATGCCGACGTCCCCT	0.522000													32	111					0	0	0.00058488	0	0
KLC4	89953	broad.mit.edu	37	6	43034831	43034831	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:43034831C>T	ENST00000458460.2	+	6	947	c.889C>T	c.(889-891)Cct>Tct	p.P297S	KLC4_ENST00000347162.5_Intron|KLC4_ENST00000394058.1_Intron|KLC4_ENST00000259708.3_Intron|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000479388.1_Intron|KLC4_ENST00000394056.2_Intron	NM_138343.2	NP_612352.1	Q9NSK0	KLC4_HUMAN	kinesin light chain 4	0						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TGTCAGTATTCCTTGCCCTCC	0.572000													7	37					0	0	0.000274275	0	0
SRPX2	27286	broad.mit.edu	37	X	99921834	99921834	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:99921834G>A	ENST00000373004.3	+	8	1293	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	289	Sushi 3.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGCCACCTGTGAATACCACTG	0.607000													32	54					0	0	0.00283554	0	0
SRGAP1	57522	broad.mit.edu	37	12	64519840	64519840	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:64519840C>T	ENST00000355086.3	+	19	2832	c.2308C>T	c.(2308-2310)Ctg>Ttg	p.L770L	SRGAP1_ENST00000543397.1_Silent_p.L707L|SRGAP1_ENST00000357825.3_Silent_p.L747L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	770	SH3.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GGGTGCCTCCCTGCTGCTGTA	0.522000													40	61					0	0	0.00195071	0	0
MUC5B	727897	broad.mit.edu	37	11	1271262	1271262	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:1271262C>T	ENST00000447027.1	+	31	13219	c.13161C>T	c.(13159-13161)tcC>tcT	p.S4387S	MUC5B_ENST00000529681.1_Silent_p.S4384S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4384	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCCTCCTCCACTCCGGGGA	0.667000													39	26					0	0	0.00195071	0	0
EYA1	2138	broad.mit.edu	37	8	72127951	72127951	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:72127951G>A	ENST00000340726.3	-	15	2012	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	EYA1_ENST00000303824.7_Missense_Mutation_p.P452L|EYA1_ENST00000419131.1_Missense_Mutation_p.P423L|EYA1_ENST00000388740.3_Missense_Mutation_p.P425L|EYA1_ENST00000388743.2_Missense_Mutation_p.P457L|EYA1_ENST00000388741.2_Missense_Mutation_p.P424L|EYA1_ENST00000388742.4_Missense_Mutation_p.P458L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	458					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCTCTTAGCTGGACCAAGCAG	0.468000													10	27					0	0	0.000673444	0	0
MUSK	4593	broad.mit.edu	37	9	113431248	113431248	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:113431248G>A	ENST00000416899.2	+	1	190	c.64G>A	c.(64-66)Gag>Aag	p.E22K	MUSK_ENST00000189978.5_Missense_Mutation_p.E22K|MUSK_ENST00000374448.4_Missense_Mutation_p.E22K|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	22					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CAGCGGAACTGAGAAACTTCC	0.423000													28	151					0	0	0.00127121	0	0
ATP1A4	480	broad.mit.edu	37	1	160141540	160141540	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:160141540G>A	ENST00000368081.4	+	12	2318	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	616					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCAGTGCAGGAATTAAGGTA	0.498000													33	85					0	0	0.000692331	0	0
KIF26B	55083	broad.mit.edu	37	1	245849122	245849122	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:245849122C>T	ENST00000366518.4	+	9	1798	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L	KIF26B_ENST00000407071.2_Missense_Mutation_p.P946L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	946	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCAGCTTTCCTTTCGAAGAA	0.607000													9	20					0	0	0.000673444	0	0
CAPN9	10753	broad.mit.edu	37	1	230898473	230898473	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:230898473C>T	ENST00000354537.1	+	4	559	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.F96F|CAPN9_ENST00000271971.2_Silent_p.F159F	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	159	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCTTGGTTTTCCTCCACTCTG	0.582000													17	36					0	0	0.000958276	0	0
CDHR3	222256	broad.mit.edu	37	7	105656440	105656440	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:105656440C>T	ENST00000542731.1	+	11	1503	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	CDHR3_ENST00000317716.9_Silent_p.S465S|CDHR3_ENST00000478080.1_Silent_p.S377S|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_Silent_p.S184S			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	465	Cadherin 4.|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATAGGCCATCCTATGTATTTG	0.393000													12	16					0	0	0.00185496	0	0
SETX	23064	broad.mit.edu	37	9	135203263	135203263	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:135203263G>T	ENST00000372169.2	-	10	3904	c.3722C>A	c.(3721-3723)aCc>aAc	p.T1241N	SETX_ENST00000224140.5_Missense_Mutation_p.T1241N|SETX_ENST00000393220.1_Missense_Mutation_p.T1241N			Q7Z333	SETX_HUMAN	senataxin	1241					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTCTTAGGGGTCTTAGAAAC	0.393000													40	98					1.49673e-21	7.6268e-21	0.00128727	1	0
TTN	7273	broad.mit.edu	37	2	179452496	179452496	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179452496C>T	ENST00000589042.1	-	306	63764	c.63540G>A	c.(63538-63540)atG>atA	p.M21180I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M19539I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M12307I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M12240I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M18612I|TTN_ENST00000460472.2_Missense_Mutation_p.M12115I|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19539	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CCAGTTTCCTCATGCTGGCAT	0.428000													14	24					0	0	0.000566183	0	0
CCDC11	220136	broad.mit.edu	37	18	47792804	47792804	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:47792804G>A	ENST00000398545.4	-	0	88					NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11											endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CGGGGGCGGCGTCCGCCGCGT	0.672000													12	55					0	0	0.00136819	0	0
LAMA3	3909	broad.mit.edu	37	18	21444815	21444815	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:21444815C>T	ENST00000313654.9	+	36	4892	c.4651C>T	c.(4651-4653)Ctt>Ttt	p.L1551F	LAMA3_ENST00000399516.3_Missense_Mutation_p.L1551F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1551	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGACATGGTTCTTCTGGAAAA	0.453000													35	64					0	0	0.00170553	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847928	18847928	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:18847928C>T	ENST00000447925.2	-	12	1640	c.1371G>A	c.(1369-1371)ttG>ttA	p.L457L	PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Silent_p.L322L|PLCZ1_ENST00000538330.1_Silent_p.L241L|PLCZ1_ENST00000435379.1_Silent_p.L264L|PLCZ1_ENST00000539875.1_Silent_p.L266L|PLCZ1_ENST00000266505.7_Silent_p.L459L	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	459	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATGTGGTTTCAAAATATATC	0.343000													20	38					0	0	0.000958276	0	0
DST	667	broad.mit.edu	37	6	56328382	56328382	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:56328382G>A	ENST00000370754.5	-	100	22846	c.22847C>T	c.(22846-22848)cCt>cTt	p.P7616L	DST_ENST00000446842.2_Missense_Mutation_p.P7112L|DST_ENST00000361203.3_Missense_Mutation_p.P7327L|DST_ENST00000370788.2_Missense_Mutation_p.P5241L|DST_ENST00000370769.4_Missense_Mutation_p.P7438L|DST_ENST00000421834.2_Missense_Mutation_p.P5323L|DST_ENST00000244364.6_Missense_Mutation_p.P5000L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7436					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGTGGTGGCAGGGACCTGTGG	0.562000													25	40					0	0	0.00106085	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019021	193019021	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:193019021G>A	ENST00000342358.4	-	24	2871	c.2754C>T	c.(2752-2754)atC>atT	p.I918I	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	918					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTAATGCACTGATAAACTGGA	0.343000													41	53					0	0	0.00285205	0	0
GPR115	221393	broad.mit.edu	37	6	47682748	47682748	+	Silent	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:47682748T>C	ENST00000283303.2	+	6	2025	c.1767T>C	c.(1765-1767)atT>atC	p.I589I	GPR115_ENST00000371220.1_Silent_p.I646I|GPR115_ENST00000327753.3_Silent_p.I589I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	589					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCCCTCTATTGGCAGTTCCA	0.478000													57	97					0	0	0.000781405	0	0
AKAP3	10566	broad.mit.edu	37	12	4747274	4747274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:4747274C>T	ENST00000545990.2	-	4	613	c.89G>A	c.(88-90)tGg>tAg	p.W30*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.W30*	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	30					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.W30L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TACCATTTTCCAGTCCTGGGC	0.443000													92	201					0	0	0.000781405	0	0
SIVA1	10572	broad.mit.edu	37	14	105222123	105222123	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:105222123G>A	ENST00000329967.6	+	2	377	c.275G>A	c.(274-276)gGc>gAc	p.G92D	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	92					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GGACCAGACGGCCGCCTGATC	0.652000													15	16					0	0	0.000422831	0	0
CELF4	56853	broad.mit.edu	37	18	34853100	34853100	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:34853100C>T	ENST00000420428.2	-	7	1223	c.828G>A	c.(826-828)atG>atA	p.M276I	CELF4_ENST00000334919.5_Missense_Mutation_p.M266I|CELF4_ENST00000603232.1_Missense_Mutation_p.M275I|CELF4_ENST00000588597.1_Missense_Mutation_p.M265I|CELF4_ENST00000591287.1_Missense_Mutation_p.M275I|CELF4_ENST00000591282.1_Missense_Mutation_p.M276I|CELF4_ENST00000361795.5_Missense_Mutation_p.M274I|CELF4_ENST00000601019.1_Missense_Mutation_p.M274I|CELF4_ENST00000412753.1_Missense_Mutation_p.M275I	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	276	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGACTGATGCCATCAGGGCCG	0.652000													19	52					0	0	0.00152264	0	0
SSTR1	6751	broad.mit.edu	37	14	38678615	38678615	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:38678615C>T	ENST00000267377.2	+	3	638	c.21C>T	c.(19-21)gcC>gcT	p.A7A		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	7					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGGCACCGCCTCCTCTCCTT	0.756000													6	7					0	0	0.000274275	0	0
GTF2H1	2965	broad.mit.edu	37	11	18357426	18357426	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:18357426G>A	ENST00000265963.4	+	3	440	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.D94N|GTF2H1_ENST00000534641.1_Intron	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	94					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGCAGTAAAAGACCTTCTTCA	0.428000								Nucleotide excision repair (NER)					23	43					0	0	0.000586117	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750125	140750125	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140750125G>A	ENST00000576222.1	+	1	295	c.164G>A	c.(163-165)gGg>gAg	p.G55E	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGACCTGGGGTTTGGCGTG	0.547000													47	61					0	0	0.000781405	0	0
PPARG	5468	broad.mit.edu	37	3	12421374	12421374	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:12421374G>A	ENST00000397026.2	+	4	571	c.188G>A	c.(187-189)aGa>aAa	p.R63K	PPARG_ENST00000397015.2_Missense_Mutation_p.R57K|PPARG_ENST00000539812.1_Missense_Mutation_p.R55K|PPARG_ENST00000397012.2_Missense_Mutation_p.R57K|PPARG_ENST00000397010.2_Missense_Mutation_p.R57K|PPARG_ENST00000309576.6_Missense_Mutation_p.R57K|PPARG_ENST00000397000.1_Missense_Mutation_p.R57K|PPARG_ENST00000287820.6_Missense_Mutation_p.R85K			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	85					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCATTCACAAGAACAGATCCA	0.393000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						179	182					0	0	0.000781405	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862476	94862476	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:94862476C>T	ENST00000278505.4	+	2	1354	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	412						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCAGGGCTCTCCTCCGGATCC	0.552000													45	39					0	0	0.000781405	0	0
TENM1	10178	broad.mit.edu	37	X	123517893	123517893	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:123517893C>T	ENST00000422452.2	-	30	6951	c.6888G>A	c.(6886-6888)tcG>tcA	p.S2296S	TENM1_ENST00000371130.3_Silent_p.S2289S|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATGTAATCTCCGAGCTTGTGT	0.443000													58	109					0	0	0.000781405	0	0
A2M	2	broad.mit.edu	37	12	9252104	9252104	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:9252104G>A	ENST00000318602.7	-	14	1881	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	525					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GATTGAGATGGAAAAATGGCC	0.433000													6	9					0	0	0.000157383	0	0
MYH1	4619	broad.mit.edu	37	17	10399767	10399767	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:10399767C>T	ENST00000226207.5	-	34	4850	c.4756G>A	c.(4756-4758)Gaa>Aaa	p.E1586K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1586						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTCAATTTCCTCATCTTTT	0.453000													65	56					0	0	0.000781405	0	0
ZNF679	168417	broad.mit.edu	37	7	63720662	63720662	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:63720662C>T	ENST00000421025.1	+	3	372	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H35Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGCCTGGATCACGCTCAGCA	0.383000													25	49					0	0	0.000720815	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	G	A	rs143629932		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:141619380G>A	ENST00000548136.1	+	1	764	c.705G>A	c.(703-705)agG>agA	p.R235R	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000													28	127					0	0	0.00106085	0	0
ENOX2	10495	broad.mit.edu	37	X	129804055	129804055	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:129804055G>A	ENST00000338144.3	-	8	1082	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ENOX2_ENST00000370927.1_Missense_Mutation_p.A222V|ENOX2_ENST00000394363.1_Missense_Mutation_p.A193V|ENOX2_ENST00000370935.1_Missense_Mutation_p.A193V	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	222					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CTCCTCTCTGGCTAGCATACG	0.502000													26	76					0	0	0.00047179	0	0
C6orf118	168090	broad.mit.edu	37	6	165715235	165715235	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:165715235G>A	ENST00000543069.1	-	2	845	c.264C>T	c.(262-264)tcC>tcT	p.S88S	C6orf118_ENST00000230301.8_Silent_p.S192S			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	192										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)		TGGTGCCTCTGGACCCGGCCT	0.642000													23	38					0	0	0.00229938	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660294	50660294	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:50660294G>A	ENST00000439308.2	-	16	2986	c.2494C>T	c.(2494-2496)Ccg>Tcg	p.P832S	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P832S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	832					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAGGGCCCGGAGACGTGACC	0.622000													7	27					0	0	0.000157383	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013374	142013374	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:142013374G>A	ENST00000390357.3	+	0	258																											CTCTATAAATGAAAGTGTGCG	0.483000													92	96					0	0	0.000781405	0	0
CYLC2	1539	broad.mit.edu	37	9	105765445	105765445	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:105765445C>T	ENST00000374798.3	+	3	150	c.80C>T	c.(79-81)tCa>tTa	p.S27L	CYLC2_ENST00000487798.1_Missense_Mutation_p.S27L	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	27	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AGCAAAAAATCATGGAATCAG	0.398000													12	57					0	0	0.00136819	0	0
EXOSC2	23404	broad.mit.edu	37	9	133578458	133578458	+	Nonsense_Mutation	SNP	C	C	T	rs149299789	by1000genomes	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:133578458C>T	ENST00000372358.5	+	8	762	c.691C>T	c.(691-693)Cga>Tga	p.R231*	EXOSC2_ENST00000467138.1_3'UTR|EXOSC2_ENST00000372351.3_Nonsense_Mutation_p.R201*|EXOSC2_ENST00000372352.3_Nonsense_Mutation_p.R223*|EXOSC2_ENST00000546165.1_Nonsense_Mutation_p.R205*			Q13868	EXOS2_HUMAN	exosome component 2	231					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		TCTTGCTGATCGAGAGGTGAT	0.468000													21	114					0	0	0.00278032	0	0
ADAT1	23536	broad.mit.edu	37	16	75646172	75646172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:75646172G>A	ENST00000307921.3	-	7	1157	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	338	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						ATGGCTTCCTGGCTGTATGGG	0.552000													21	30					0	0	0.000720815	0	0
SETD1A	9739	broad.mit.edu	37	16	30976109	30976109	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:30976109C>T	ENST00000262519.8	+	7	1732	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	349	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						tcgtcctcctcgtcatcctct	0.567000													80	97					0	0	0.000781405	0	0
C1orf186	440712	broad.mit.edu	37	1	206239499	206239499	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:206239499C>T	ENST00000331555.5	-	6	1037	c.399G>A	c.(397-399)gaG>gaA	p.E133E		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	133						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTTTATGTTCTCATAGTCCA	0.448000													10	33					0	0	0.000673444	0	0
PRSS16	10279	broad.mit.edu	37	6	27215814	27215814	+	Missense_Mutation	SNP	G	G	A	rs150849072	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:27215814G>A	ENST00000230582.3	+	2	239	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	PRSS16_ENST00000421826.2_Missense_Mutation_p.R75Q	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	75					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.R75Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCGACAGACGATCCTTCCTA	0.617000													8	34					0	0	0.000157383	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877271	125877271	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:125877271G>A	ENST00000393434.2	-	3	688	c.339C>T	c.(337-339)caC>caT	p.H113H	ALDH1L1_ENST00000472186.1_Silent_p.H113H|ALDH1L1_ENST00000273450.3_Silent_p.H123H|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000452905.2_Silent_p.H113H|ALDH1L1_ENST00000393431.2_Silent_p.H113H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	113	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AGGCCCCTCGGTGCCTAGGGA	0.572000													3	10					0	0	6.4e-05	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836075	40836075	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:40836075G>A	ENST00000264638.4	+	3	408	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	64	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGTCACCACGGATTGGGGAT	0.597000													40	42					0	0	0.00170553	0	0
SVOPL	136306	broad.mit.edu	37	7	138347878	138347878	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:138347878C>T	ENST00000419765.3	-	4	319	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	SVOPL_ENST00000288513.5_5'UTR|SVOPL_ENST00000436657.1_5'UTR|SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	96						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ACCATGTAGCCAAAAAACACC	0.463000													36	42					0	0	0.000692331	0	0
TULP1	7287	broad.mit.edu	37	6	35478645	35478645	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:35478645G>A	ENST00000229771.6	-	5	571	c.492C>T	c.(490-492)ggC>ggT	p.G164G	TULP1_ENST00000322263.4_Silent_p.G111G	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	164					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CACCCCTTGGGCCCTGGGCCT	0.592000													34	65					0	0	0.0025221	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274316	103274316	+	Missense_Mutation	SNP	G	G	A	rs61743555	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:103274316G>A	ENST00000233969.2	+	2	725	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	195						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTGCCAGATCGAAGCATTCGG	0.478000													71	157					0	0	0.000781405	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641711	106641711	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:106641711C>T	ENST00000390605.2	-	0	261																											GCTGATCCATCCCATCCACTC	0.542000													68	153					0	0	0.000781405	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127921	117127921	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:117127921T>C	ENST00000310357.3	-	3	968	c.947A>G	c.(946-948)aAt>aGt	p.N316S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.N316S|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	316					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTTTTAACATTAGGAATGGT	0.363000													13	45					0	0	0.00185496	0	0
STK31	56164	broad.mit.edu	37	7	23808674	23808674	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:23808674G>A	ENST00000354639.3	+	12	1872	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E470K|STK31_ENST00000433467.2_Missense_Mutation_p.E493K|STK31_ENST00000355870.3_Missense_Mutation_p.E493K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	493							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATTCTGATGAAATACTTAA	0.368000													36	38					0	0	0.000953801	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522484	32522484	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:32522484G>A	ENST00000411500.1	-	0	722					NR_001298.1																						CACTGTGAGAGGGCTCGTCAC	0.512000													19	150					0	0	0.00106085	0	0
CES1	1066	broad.mit.edu	37	16	55855423	55855423	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:55855423C>T	ENST00000422046.2	-	5	828	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	CES1_ENST00000361503.4_Missense_Mutation_p.E183K|CES1_ENST00000360526.3_Missense_Mutation_p.E184K|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	183					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CGGCTGTGTTCATCCCCTGTG	0.602000													16	14					0	0	0.00074312	0	0
LTF	4057	broad.mit.edu	37	3	46485063	46485063	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:46485063G>A	ENST00000231751.4	-	13	1819	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	LTF_ENST00000426532.2_Silent_p.F464F|LTF_ENST00000417439.1_Silent_p.F506F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	508	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGCTTTGACTGAAATATTCAT	0.517000													52	70					0	0	0.000781405	0	0
DHX9	1660	broad.mit.edu	37	1	182845266	182845266	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:182845266C>T	ENST00000367549.3	+	17	2007	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	633					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAAGGAAACTCCTTTTGAACT	0.398000													34	68					0	0	0.0024448	0	0
FAM217B	63939	broad.mit.edu	37	20	58519738	58519738	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:58519738C>T	ENST00000358293.3	+	5	1155	c.740C>T	c.(739-741)tCc>tTc	p.S247F	FAM217B_ENST00000360816.3_Missense_Mutation_p.S247F|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	247																	TCAGGCCCTTCCCGAAAGAAA	0.493000													37	84					0	0	0.000953801	0	0
SART3	9733	broad.mit.edu	37	12	108917343	108917343	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:108917343G>A	ENST00000228284.3	-	19	3017	c.2783C>T	c.(2782-2784)cCt>cTt	p.P928L	SART3_ENST00000431469.2_Missense_Mutation_p.P892L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	928					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCAGCCTGAGGAGCTGCAGC	0.602000									Porokeratosis				33	73					0	0	0.00178596	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65350368	65350368	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:65350368C>T	ENST00000284037.5	+	21	3611	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	ERBB2IP_ENST00000511297.1_Silent_p.I1070I|ERBB2IP_ENST00000380943.2_Silent_p.I1074I|ERBB2IP_ENST00000508515.1_Silent_p.I1074I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Silent_p.I1074I|ERBB2IP_ENST00000380938.2_Silent_p.I1074I|ERBB2IP_ENST00000380936.1_Silent_p.I1074I|ERBB2IP_ENST00000506030.1_Silent_p.I1074I|ERBB2IP_ENST00000380939.2_Silent_p.I1074I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1074					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAAGTACAATCCAGCGACAAA	0.473000													39	45					0	0	0.00285205	0	0
CRNN	49860	broad.mit.edu	37	1	152383020	152383020	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:152383020T>C	ENST00000271835.3	-	3	600	c.538A>G	c.(538-540)Agc>Ggc	p.S180G	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	180	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTGCGGGCTTATTCTTTCC	0.572000													101	167					0	0	0.000781405	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238569	71238569	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:71238569G>T	ENST00000398536.4	+	1	257	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	75	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGCTCCAAGGGGGGCTGTGG	0.652000													60	90					7.92265e-33	4.0455e-32	0.000781405	1	0
FOLH1B	219595	broad.mit.edu	37	11	89420549	89420549	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:89420549C>T	ENST00000532352.1	+	0	1364							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAAGGCAAATCTCTTTATGAA	0.348000													25	32					0	0	0.00127121	0	0
PLCL1	5334	broad.mit.edu	37	2	198949322	198949322	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:198949322G>A	ENST00000428675.1	+	2	1479	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E263K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	361					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGGAGATACGAACTTTCTGA	0.388000													20	53					0	0	0.00121646	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835246	12835246	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:12835246G>A	ENST00000357726.4	+	1	263	c.236G>A	c.(235-237)cGa>cAa	p.R79Q		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGATCTTTCGAGCTGTGCTG	0.582000													30	68					0	0	0.00209593	0	0
TRAV10	28676	broad.mit.edu	37	14	22294006	22294006	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:22294006G>A	ENST00000390432.2	+	0	146																											ATCCTGGAGGGAAAGAACTGC	0.463000													20	36					0	0	0.000958276	0	0
TTC26	79989	broad.mit.edu	37	7	138819411	138819411	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:138819411G>A	ENST00000464848.1	+	2	94	c.14G>A	c.(13-15)aGg>aAg	p.R5K	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.R5K|TTC26_ENST00000474035.2_Missense_Mutation_p.R5K|TTC26_ENST00000495038.1_Missense_Mutation_p.R5K|TTC26_ENST00000430935.1_Missense_Mutation_p.R5K|TTC26_ENST00000478836.2_Missense_Mutation_p.R5K			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	5							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATGCTTTCAAGGGCCAAACCT	0.398000													35	27					0	0	0.00111076	0	0
MPP2	4355	broad.mit.edu	37	17	41958487	41958487	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:41958487C>T	ENST00000269095.4	-	9	1263	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	MPP2_ENST00000461854.1_Missense_Mutation_p.R344Q|MPP2_ENST00000536246.1_Missense_Mutation_p.R309Q|MPP2_ENST00000377184.3_Missense_Mutation_p.R337Q|MPP2_ENST00000523501.1_Missense_Mutation_p.R309Q|MPP2_ENST00000520305.1_Missense_Mutation_p.R181Q|MPP2_ENST00000518766.1_Missense_Mutation_p.R365Q	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	344					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ATACATCATTCGCTTCTTTTT	0.557000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	67					0	0	0.000781405	0	0
SETDB2	83852	broad.mit.edu	37	13	50065897	50065897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:50065897G>A	ENST00000354234.4	+	14	2942	c.2036G>A	c.(2035-2037)tGg>tAg	p.W679*	SETDB2_ENST00000317257.8_Nonsense_Mutation_p.W691*	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	691	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GAGCTAACATGGGATTATGGC	0.313000													25	38					0	0	0.00106085	0	0
HCFC1	3054	broad.mit.edu	37	X	153220575	153220575	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:153220575G>A	ENST00000310441.7	-	17	4241	c.3275C>T	c.(3274-3276)aCc>aTc	p.T1092I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1023I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1092I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1092					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ggtggcggtggtggcggtgtt	0.647000													14	22					0	0	0.00244969	0	0
DMD	1756	broad.mit.edu	37	X	32235169	32235169	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:32235169C>T	ENST00000357033.4	-	44	6508	c.6302G>A	c.(6301-6303)aGa>aAa	p.R2101K	DMD_ENST00000378677.2_Missense_Mutation_p.R2097K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2101					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCAACAGATCTGTCAAATCG	0.338000													4	23					0	0	0.000602214	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283959	151283959	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:151283959G>A	ENST00000509345.2	-	0	377																											CCTCTTCTTGGGTGTCAAGGC	0.632000													43	85					0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237838033	237838033	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:237838033G>A	ENST00000366574.2	+	60	9034	c.8717G>A	c.(8716-8718)gGa>gAa	p.G2906E	RYR2_ENST00000542537.1_Missense_Mutation_p.G2890E|RYR2_ENST00000360064.6_Missense_Mutation_p.G2904E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2906	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2904V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTTCCAGAGGATTTAAGGAC	0.373000													13	20					0	0	0.000308642	0	0
DDX24	57062	broad.mit.edu	37	14	94521401	94521401	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:94521401T>A	ENST00000330836.5	-	7	2250	c.2119A>T	c.(2119-2121)Aag>Tag	p.K707*	DDX24_ENST00000555054.1_Nonsense_Mutation_p.K664*|DDX24_ENST00000544005.1_Nonsense_Mutation_p.K457*	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	707	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCATCTTTCTTGAGCGTTTTG	0.458000													60	127					0	0	0.000781405	0	0
TNXB	7148	broad.mit.edu	37	6	32032745	32032745	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:32032745C>T	ENST00000375244.3	-	19	6895	c.6694G>A	c.(6694-6696)Gac>Aac	p.D2232N	TNXB_ENST00000375247.2_Missense_Mutation_p.D2232N			P22105	TENX_HUMAN	tenascin XB	2304	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTGCCCGTCCCCATTCTTA	0.597000													153	306					0	0	0.000781405	0	0
FANCM	57697	broad.mit.edu	37	14	45645573	45645573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:45645573C>T	ENST00000267430.5	+	14	3701	c.3616C>T	c.(3616-3618)Cag>Tag	p.Q1206*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q1180*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1206					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATCTCGTGATCAGAGAGGTGT	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				25	55					0	0	0.000586117	0	0
BTN1A1	696	broad.mit.edu	37	6	26505364	26505364	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:26505364G>A	ENST00000244513.6	+	3	705	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	213	Ig-like V-type 2.		A -> T (in dbSNP:rs3736781).			extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ACACTTCTGCGAAAAATGTGT	0.453000													41	70					0	0	0.00222228	0	0
TMTC3	160418	broad.mit.edu	37	12	88586521	88586521	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:88586521C>T	ENST00000266712.6	+	13	2067	c.1847C>T	c.(1846-1848)gCc>gTc	p.A616V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	616						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCAAATGAAGCCCTAAAAAAC	0.343000													33	80					0	0	0.00283554	0	0
USP28	57646	broad.mit.edu	37	11	113677220	113677220	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:113677220C>T	ENST00000003302.4	-	19	2459	c.2391G>A	c.(2389-2391)ggG>ggA	p.G797G	USP28_ENST00000545540.1_Intron|USP28_ENST00000544967.1_Intron|USP28_ENST00000260188.5_Intron	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	797					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTTAATCAGCCCTGCTTCAG	0.438000													25	25					0	0	0.00106085	0	0
CDR1	1038	broad.mit.edu	37	X	139865895	139865895	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:139865895C>T	ENST00000370532.2	-	1	828	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	213										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCAGTCAATCCACATCTTCCG	0.433000													44	83					0	0	0.0025221	0	0
TMEM131	23505	broad.mit.edu	37	2	98382998	98382998	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:98382998G>A	ENST00000186436.5	-	34	4744	c.4516C>T	c.(4516-4518)Cct>Tct	p.P1506S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1506						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTTGGAAGAGGAATCTTGCTT	0.383000													32	97					0	0	0.0024448	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933721	31933721	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:31933721C>T	ENST00000375394.2	+	18	2246	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P	SKIV2L_ENST00000544581.1_Silent_p.P518P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	711	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCTGGACCCCACAGGCACCG	0.667000													78	178					0	0	0.000781405	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177429	89177429	+	Silent	SNP	G	G	A	rs138727889	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:89177429G>A	ENST00000561129.2	+	1	475	c.345G>A	c.(343-345)caG>caA	p.Q115Q	TGIF2LX_ENST00000283891.5_Silent_p.Q115Q			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGCTTCAACAGCGTAGAAACG	0.522000													47	65					0	0	0.000781405	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:63174115G>A	ENST00000279178.3	+	7	1469	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483000													14	28					0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9019292	9019292	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:9019292G>A	ENST00000397910.4	-	23	37798	c.37595C>T	c.(37594-37596)tCc>tTc	p.S12532F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12534					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGGGAGGGAGAATGGAGT	0.458000													12	19					0	0	0.00136819	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995826	19995826	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:19995826G>A	ENST00000391403.2	-	1	2052	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	650						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATTTTCAGCGGGGAGAGATGA	0.428000													60	166					0	0	0.000781405	0	0
MED23	9439	broad.mit.edu	37	6	131927666	131927666	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:131927666G>A	ENST00000403834.3	-	13	1511	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	MED23_ENST00000368058.1_Silent_p.N446N|MED23_ENST00000368060.3_Silent_p.N440N|MED23_ENST00000354577.4_Silent_p.N446N|MED23_ENST00000368053.4_Silent_p.N446N|MED23_ENST00000545957.1_Silent_p.N81N|MED23_ENST00000540546.1_Silent_p.N446N|MED23_ENST00000539158.1_Silent_p.N440N|MED23_ENST00000368068.3_Silent_p.N440N			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	440					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAGCTTGGAGTTGTCATTTT	0.358000													25	39					0	0	0.000720815	0	0
HUWE1	10075	broad.mit.edu	37	X	53654416	53654416	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:53654416C>T	ENST00000342160.3	-	16	1891	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	HUWE1_ENST00000262854.6_Silent_p.K478K|HUWE1_ENST00000218328.8_Silent_p.K478K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	478					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCTCTGGATCTTTGGCTTGA	0.323000													46	102					0	0	0.000781405	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43887025	43887025	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:43887025C>T	ENST00000389420.3	-	5	898	c.899G>A	c.(898-900)gGa>gAa	p.G300E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G300E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	300	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATCAAATTTCCAATACTTGG	0.289000													3	11					0	0	6.4e-05	0	0
HECTD4	283450	broad.mit.edu	37	12	112691863	112691863	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:112691863G>A	ENST00000550722.1	-	22	3388	c.2993C>T	c.(2992-2994)cCg>cTg	p.P998L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P712L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P962L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CAAGTCTTTCGGCCAACCAGT	0.458000													37	77					0	0	0.00148497	0	0
ASB2	51676	broad.mit.edu	37	14	94401096	94401096	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:94401096C>T	ENST00000555019.1	-	10	2244	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	ASB2_ENST00000315988.4_Missense_Mutation_p.R557Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	557					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AATGGCCTTTCGAACCCGCAG	0.488000													26	55					0	0	0.000720815	0	0
MYL3	4634	broad.mit.edu	37	3	46904827	46904827	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:46904827C>T	ENST00000395869.1	-	1	105	c.54G>A	c.(52-54)aaG>aaA	p.K18K	MYL3_ENST00000292327.4_Silent_p.K18K			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	18					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTGGAGCTGCCTTGGGGGCTG	0.582000													29	22					0	0	0.000878237	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150952	132150952	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:132150952C>A	ENST00000378693.2	+	1	1920	c.1639C>A	c.(1639-1641)Cca>Aca	p.P547T		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	547																	CAGTTTTCCTCCAACAACCTG	0.567000													13	8					2.62699e-14	1.32758e-13	0.000308642	1	0
VEGFC	7424	broad.mit.edu	37	4	177650814	177650814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:177650814C>T	ENST00000280193.2	-	2	649	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	78					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGTACATTTTCCAATATTCTG	0.433000													11	10					0	0	0.000978159	0	0
GXYLT1	283464	broad.mit.edu	37	12	42499824	42499824	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:42499824G>A	ENST00000398675.3	-	5	892	c.660C>T	c.(658-660)atC>atT	p.I220I	GXYLT1_ENST00000280876.6_Silent_p.I189I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	220					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTAAAAAAAGGATATCAGTGT	0.323000													21	55					0	0	0.00229938	0	0
GRIA4	2893	broad.mit.edu	37	11	105842717	105842717	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:105842717G>A	ENST00000282499.5	+	15	2817	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	GRIA4_ENST00000533094.1_Intron|GRIA4_ENST00000530497.1_Missense_Mutation_p.D791N|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000393127.2_Intron	NM_000829.3	NP_000820.3	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	791					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATGGTGGTACGATAAAGGTGA	0.463000													16	11					0	0	0.00074312	0	0
RAPSN	5913	broad.mit.edu	37	11	47460343	47460343	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:47460343G>A	ENST00000298854.2	-	7	1319	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	RAPSN_ENST00000528356.1_Intron|RAPSN_ENST00000524487.1_Silent_p.V318V|RAPSN_ENST00000529341.1_Missense_Mutation_p.S310F|RAPSN_ENST00000352508.3_Missense_Mutation_p.S310F	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	369					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTCGCCTATGGACTCGCCGCA	0.662000													3	2					0	0	6.4e-05	0	0
CD53	963	broad.mit.edu	37	1	111441775	111441775	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:111441775G>A	ENST00000271324.5	+	8	730	c.618G>A	c.(616-618)ctG>ctA	p.L206L	CD53_ENST00000497404.1_3'UTR|CD53_ENST00000429072.2_Silent_p.L147L	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	206					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CACTGACCCTGAACTGCCAGA	0.443000													19	52					0	0	0.00047179	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604234	124604234	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:124604234C>T	ENST00000368417.1	+	2	198	c.138C>T	c.(136-138)atC>atT	p.I46I	NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Silent_p.I31I|NKAIN2_ENST00000368416.1_Silent_p.I46I|NKAIN2_ENST00000546092.1_Silent_p.I46I	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	46						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATATTATTATCGTCATTCTTG	0.348000													27	61					0	0	0.00106085	0	0
PGK1	5230	broad.mit.edu	37	X	77369647	77369647	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:77369647C>T	ENST00000373316.4	+	4	574	c.407C>T	c.(406-408)tCt>tTt	p.S136F	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.S108F	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	136					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						AAAGATGCTTCTGGGAACAAG	0.483000													148	252					0	0	0.000781405	0	0
CDH20	28316	broad.mit.edu	37	18	59206330	59206330	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:59206330C>T	ENST00000262717.4	+	9	1880	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	CDH20_ENST00000536675.2_Silent_p.F494F|CDH20_ENST00000538374.1_Silent_p.F494F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	494	Cadherin 4.|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F494L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTCCAGAGTTCCCCAGATTCT	0.473000													52	92					0	0	0.000781405	0	0
UPF3B	65109	broad.mit.edu	37	X	118979221	118979221	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:118979221G>C	ENST00000276201.2	-	4	478	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	UPF3B_ENST00000345865.2_Missense_Mutation_p.Q137E	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	137	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GCAGCTTTTTGAAAAGGTGCA	0.348000													41	81					0	0	0.00222228	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				48	44					0	0	0.000781405	0	0
OPRL1	4987	broad.mit.edu	37	20	62730145	62730145	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:62730145C>T	ENST00000349451.3	+	6	1518	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	OPRL1_ENST00000336866.2_Missense_Mutation_p.P369L|OPRL1_ENST00000355631.4_Missense_Mutation_p.P369L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	369					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTACCGCGGCCCGCATGACTA	0.662000													9	21					0	0	0.000978159	0	0
PRKCI	5584	broad.mit.edu	37	3	169999014	169999014	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:169999014C>T	ENST00000295797.4	+	10	1248	c.943C>T	c.(943-945)Ctt>Ttt	p.L315F		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	315	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCATCCTTTCCTTGTTGGGCT	0.363000													27	38					0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179495596C>T	ENST00000589042.1	-	238	44313	c.44089G>A	c.(44089-44091)Gaa>Aaa	p.E14697K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13056K|TTN_ENST00000342175.6_Missense_Mutation_p.E5824K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5757K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12129K|TTN_ENST00000460472.2_Missense_Mutation_p.E5632K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13056	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TCAGAGATTTCGGTTTCAAAG	0.493000													23	89					0	0	0.00047179	0	0
HECW2	57520	broad.mit.edu	37	2	197090520	197090520	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:197090520G>A	ENST00000260983.2	-	23	4174	c.3992C>T	c.(3991-3993)cCc>cTc	p.P1331L	HECW2_ENST00000409111.1_Missense_Mutation_p.P975L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1331	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTTATAAAAGGGCCGTGTGAA	0.373000													13	53					0	0	0.000566183	0	0
POTEE	445582	broad.mit.edu	37	2	132021568	132021568	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:132021568G>A	ENST00000356920.5	+	15	2634	c.2540G>A	c.(2539-2541)cGt>cAt	p.R847H	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	847	Actin-like.						ATP binding										ACCTCTGGCCGTACTACTGGC	0.607000													21	142					0	0	0.00278032	0	0
PEG3	5178	broad.mit.edu	37	19	57335908	57335908	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:57335908G>A	ENST00000326441.9	-	4	479	c.116C>T	c.(115-117)cCa>cTa	p.P39L	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P39L|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	39					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAGTCAGTTGGACCTTCTCC	0.483000													27	56					0	0	0.000720815	0	0
SPRED1	161742	broad.mit.edu	37	15	38614474	38614474	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:38614474C>T	ENST00000299084.4	+	3	1100	c.240C>T	c.(238-240)ctC>ctT	p.L80L	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	80	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAAAAGACCTCATTTATAATA	0.338000									Legius syndrome				55	48					0	0	0.000781405	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917356	108917356	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:108917356C>T	ENST00000326853.5	+	5	826	c.372_splice	c.e5-1	p.L125_splice	SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000437390.2_Silent_p.L128L|SULT1C2_ENST00000251481.6_Silent_p.L114L	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	114					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTCCACTCAGCTGCTGCCACC	0.478000													44	98					0	0	0.000781405	0	0
FLNC	2318	broad.mit.edu	37	7	128485029	128485029	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:128485029C>T	ENST00000325888.8	+	21	3771	c.3510C>T	c.(3508-3510)gtC>gtT	p.V1170V	FLNC_ENST00000346177.6_Silent_p.V1170V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1170					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGGCAAGGTCGGTGAGGCAG	0.657000													11	58					0	0	0.000978159	0	0
KLK11	11012	broad.mit.edu	37	19	51527935	51527935	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:51527935G>A	ENST00000594768.1	-	3	437	c.252C>T	c.(250-252)atC>atT	p.I84I	KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Silent_p.I52I|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Silent_p.I52I|KLK11_ENST00000319720.7_Silent_p.I52I	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	84	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		ATCTGGGGGCGATGAGCGTCG	0.677000													4	13					0	0	0.00024832	0	0
OR10A6	390093	broad.mit.edu	37	11	7949581	7949581	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:7949581G>A	ENST00000309838.2	-	1	628	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAACAAGAAAGGAACCAAAAT	0.423000													12	13					0	0	0.000978159	0	0
ITPR3	3710	broad.mit.edu	37	6	33639930	33639930	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33639930G>A	ENST00000374316.5	+	23	3913	c.2853G>A	c.(2851-2853)ctG>ctA	p.L951L	ITPR3_ENST00000605930.1_Silent_p.L951L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	951					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGAGCCGCTGGACAGAAGCA	0.597000													22	55					0	0	0.00047179	0	0
MLN	4295	broad.mit.edu	37	6	33768863	33768863	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33768863G>A	ENST00000430124.2	-	2	143	c.78C>T	c.(76-78)ttC>ttT	p.F26F	MLN_ENST00000507738.1_Silent_p.F26F|MLN_ENST00000266003.5_Silent_p.F26F	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	26					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	p.F26F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						AGATGGGGACGAAGGCTTCCG	0.582000													45	104					0	0	0.000781405	0	0
MST1L	11223	broad.mit.edu	37	1	17083808	17083808	+	RNA	SNP	G	G	A	rs140260478		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:17083808G>A	ENST00000455405.2	-	0	780																											GCGACCTTGTGCATACTCGGT	0.562000													4	39					0	0	0.00198382	0	0
FAM71A	149647	broad.mit.edu	37	1	212799719	212799719	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:212799719G>A	ENST00000294829.3	+	1	1931	c.1500G>A	c.(1498-1500)aaG>aaA	p.K500K	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	500										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCATCTCAAAGGAGTCCAGGA	0.557000													37	66					0	0	0.00222228	0	0
COPS5	10987	broad.mit.edu	37	8	67963533	67963533	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:67963533G>A	ENST00000517736.1	-	6	1072	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	COPS5_ENST00000357849.4_Missense_Mutation_p.R235C|PPP1R42_ENST00000517834.1_5'UTR			Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	235					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGCAATTTGCGATCCAAAGAG	0.308000													27	58					0	0	0.00106085	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801921	185801921	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:185801921A>T	ENST00000302277.6	+	4	2392	c.1798A>T	c.(1798-1800)Aaa>Taa	p.K600*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	600			K -> R (in dbSNP:rs35925696).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAAAAAAGAAAAAAGTTATG	0.328000													52	89					0	0	0.000781405	0	0
ABCC11	85320	broad.mit.edu	37	16	48226485	48226485	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:48226485G>A	ENST00000394747.1	-	19	3001	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.F884F|ABCC11_ENST00000353782.5_Silent_p.F884F|ABCC11_ENST00000356608.2_Silent_p.F884F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	884	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGACCTTGGTGAAAATCCCTG	0.577000													30	33					0	0	0.00127121	0	0
AEN	64782	broad.mit.edu	37	15	89172601	89172601	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:89172601C>T	ENST00000332810.3	+	3	836	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	AEN_ENST00000379231.3_Missense_Mutation_p.R229W	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	229	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCTCCACACCCGGGCCCGGGT	0.647000													44	36					0	0	0.000781405	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816261	1816261	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:1816261C>T	ENST00000250894.4	+	22	2824	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	MAPK8IP3_ENST00000356010.5_Silent_p.S883S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	889					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			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						TCAACCCGTCCCAGTCCACAG	0.657000													20	23					0	0	0.00121646	0	0
MPEG1	219972	broad.mit.edu	37	11	58978890	58978890	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:58978890G>A	ENST00000361050.3	-	1	1534	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	483						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCTTGCTGCTGAAGAGGCCCC	0.488000													38	45					0	0	0.000814825	0	0
COL5A1	1289	broad.mit.edu	37	9	137734038	137734038	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:137734038C>T	ENST00000371817.3	+	66	5820	c.5406C>T	c.(5404-5406)atC>atT	p.I1802I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1802	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCTGGAGATCGACACCCCCA	0.532000													9	43					0	0	0.000274275	0	0
NKAPL	222698	broad.mit.edu	37	6	28227310	28227310	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:28227310C>T	ENST00000343684.3	+	1	213	c.161C>T	c.(160-162)cCt>cTt	p.P54L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	54										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CTCAGGCCTCCTTGGAGTGAG	0.657000													22	52					0	0	0.00278032	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671262	131671262	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:131671262C>T	ENST00000259324.5	+	3	2342	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	LRRC8A_ENST00000372600.4_Missense_Mutation_p.P607S|LRRC8A_ENST00000372599.3_Missense_Mutation_p.P607S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	607					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGCGCATCCCCCACTCCAT	0.557000													12	48					0	0	0.00136819	0	0
GON4L	54856	broad.mit.edu	37	1	155823261	155823261	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:155823261G>A	ENST00000437809.1	-	2	433	c.311C>T	c.(310-312)aCc>aTc	p.T104I	GON4L_ENST00000271883.5_Missense_Mutation_p.T104I|GON4L_ENST00000361040.5_Missense_Mutation_p.T104I|GON4L_ENST00000368331.1_Missense_Mutation_p.T104I|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	104					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAAGGTAGGGTGATTCCCTG	0.453000													51	87					0	0	0.000781405	0	0
COL11A2	1302	broad.mit.edu	37	6	33145223	33145223	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33145223C>T	ENST00000341947.2	-	23	2164	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	COL11A2_ENST00000374714.1_Missense_Mutation_p.G620E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G560E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G565E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G586E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G599E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G625E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G539E|COL11A2_ENST00000477772.1_5'UTR	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	646	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCAGGAGGTCCTGGCTCTCC	0.582000													15	26					0	0	0.000308642	0	0
CNOT4	4850	broad.mit.edu	37	7	135047645	135047645	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:135047645G>T	ENST00000541284.1	-	12	2464	c.2134C>A	c.(2134-2136)Cgc>Agc	p.R712S	CNOT4_ENST00000423368.2_Missense_Mutation_p.R641S|CNOT4_ENST00000451834.1_Missense_Mutation_p.R709S|CNOT4_ENST00000361528.4_Missense_Mutation_p.R638S	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCTAATGGCGGTCCAGTGTT	0.527000													10	512					0.00010058	0.000505167	0.00136819	1	0
LARP6	55323	broad.mit.edu	37	15	71124689	71124689	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:71124689G>A	ENST00000299213.8	-	3	1248	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	393					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGACTTTCTGGAAACGCCTTT	0.562000													38	39					0	0	0.00111076	0	0
ADAM32	203102	broad.mit.edu	37	8	39089651	39089651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:39089651G>A	ENST00000379907.4	+	15	1758	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*	ADAM32_ENST00000519315.1_Nonsense_Mutation_p.W438*|ADAM32_ENST00000437682.2_Nonsense_Mutation_p.W445*	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	544					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTCTGTGGATGGAGGTATGCT	0.338000													34	67					0	0	0.00058488	0	0
HTR2B	3357	broad.mit.edu	37	2	231973942	231973942	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:231973942C>T	ENST00000258400.3	-	4	1247	c.735G>A	c.(733-735)caG>caA	p.Q245Q	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	245					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAGCCTTCTTCTGTAAAGCAT	0.448000													24	60					0	0	0.00229938	0	0
HYAL4	23553	broad.mit.edu	37	7	123508936	123508936	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:123508936C>T	ENST00000223026.4	+	3	1247	c.609C>T	c.(607-609)atC>atT	p.I203I	HYAL4_ENST00000476325.1_Silent_p.I203I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	203					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGGAAACCATCAAATTGGGAA	0.378000													54	61					0	0	0.000781405	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686135	108686135	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:108686135G>C	ENST00000397688.2	-	3	968	c.599C>G	c.(598-600)tCg>tGg	p.S200W	CMKLR1_ENST00000412676.1_Missense_Mutation_p.S202W|CMKLR1_ENST00000550402.1_Missense_Mutation_p.S202W|CMKLR1_ENST00000312143.7_Missense_Mutation_p.S202W|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S200W	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	202					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGTGGGCCACGAGGAAGACCC	0.567000													4	63					0	0	0.00024832	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:248616137C>T	ENST00000342927.3	+	1	61	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTAACTTCGTCCTCACAG	0.507000													30	140					0	0	0.000781405	0	0
FAR2P1	440905	broad.mit.edu	37	2	130792768	130792768	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:130792768G>A	ENST00000325390.3	-	0	2560					NR_026758.1																						TGTATCACCTGGAATTGGAAT	0.463000													4	23					0	0	0.00024832	0	0
PCDH15	65217	broad.mit.edu	37	10	55570336	55570336	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:55570336C>T	ENST00000373965.2	-	35	4877	c.4483G>A	c.(4483-4485)Gaa>Aaa	p.E1495K	PCDH15_ENST00000414778.1_Missense_Mutation_p.E1492K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Silent_p.R1511R|PCDH15_ENST00000409834.1_Silent_p.R1122R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1495K|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATATTCTTCCTCAGCTTCA	0.393000										HNSCC(58;0.16)			53	56					0	0	0.000781405	0	0
TSR2	90121	broad.mit.edu	37	X	54470860	54470860	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:54470860G>A	ENST00000375151.4	+	5	474	c.453G>A	c.(451-453)acG>acA	p.T151T		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	151					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						TCACAGCTACGAATGATGGGG	0.522000													11	16					0	0	0.000978159	0	0
NKD1	85407	broad.mit.edu	37	16	50664200	50664200	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:50664200C>T	ENST00000268459.3	+	7	790	c.566C>T	c.(565-567)cCc>cTc	p.P189L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	189	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACCGTGGCCCCCGATGGCAGC	0.582000													21	18					0	0	0.000586117	0	0
ACER2	340485	broad.mit.edu	37	9	19435068	19435068	+	Silent	SNP	C	C	T	rs141700425	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:19435068C>T	ENST00000340967.2	+	4	515	c.489C>T	c.(487-489)atC>atT	p.I163I	ACER2_ENST00000380376.1_Silent_p.I114I	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	163					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CACTGCTCATCGCAGAGCTAA	0.552000													16	27					0	0	0.000566183	0	0
TNN	63923	broad.mit.edu	37	1	175046806	175046806	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:175046806C>T	ENST00000239462.4	+	2	365	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	84					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AACAGAACATCATCTTCAGGC	0.612000													11	24					0	0	0.00136819	0	0
RTN1	6252	broad.mit.edu	37	14	60194368	60194368	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:60194368G>A	ENST00000267484.5	-	3	1369	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	345					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTTCCCCTGGGATTCTGCAGC	0.562000													10	16					0	0	0.000978159	0	0
CEP104	9731	broad.mit.edu	37	1	3742397	3742397	+	Silent	SNP	G	G	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:3742397G>T	ENST00000378230.3	-	18	2613	c.2289C>A	c.(2287-2289)tcC>tcA	p.S763S		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	763						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCTCTGTGAAGGATTCACTCC	0.498000													26	63					1.08312e-15	5.48497e-15	0.00178596	1	0
RYR3	6263	broad.mit.edu	37	15	33993274	33993274	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:33993274T>G	ENST00000389232.4	+	42	6546	c.6476T>G	c.(6475-6477)cTc>cGc	p.L2159R	RYR3_ENST00000415757.3_Missense_Mutation_p.L2159R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2159	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAACCAGACCTCGAGAAGGTA	0.567000											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0	0	0.000274275	0	0
NWD1	284434	broad.mit.edu	37	19	16908678	16908678	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:16908678C>T	ENST00000524140.2	+	16	3858	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	NWD1_ENST00000379808.3_Missense_Mutation_p.S1147F|NWD1_ENST00000339803.6_Missense_Mutation_p.S1012F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1147F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1147F|NWD1_ENST00000523826.1_Missense_Mutation_p.S941F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1147							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCACGGGGTCCCTTGATGCG	0.522000													85	89					0	0	0.000781405	0	0
OR1L8	138881	broad.mit.edu	37	9	125329868	125329868	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:125329868G>A	ENST00000304865.2	-	1	970	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCCTGTTTCAGGTCTTTGTTT	0.458000													39	52					0	0	0.00170553	0	0
RYR1	6261	broad.mit.edu	37	19	38956933	38956933	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:38956933C>T	ENST00000355481.4	+	24	3204	c.3073C>T	c.(3073-3075)Ctg>Ttg	p.L1025L	RYR1_ENST00000360985.3_Silent_p.L1025L|RYR1_ENST00000359596.3_Silent_p.L1025L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1025	6 X approximate repeats.|B30.2/SPRY 2.				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			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)	GCCCTACCGCCTGCTGGATGA	0.682000													5	5					0	0	0.000602214	0	0
C1orf168	199920	broad.mit.edu	37	1	57204318	57204318	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:57204318G>A	ENST00000343433.6	-	14	1792	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	571										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAGCAAAATGGAAAATGCACT	0.378000													31	62					0	0	0.00128727	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925402	218925402	+	RNA	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:218925402C>T	ENST00000439871.1	-	0	978					NR_002712.1																						CCACATGGTCCAGTGCTTCTG	0.557000													9	48					0	0	0.000978159	0	0
TRMT44	152992	broad.mit.edu	37	4	8467171	8467171	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:8467171C>T	ENST00000389737.4	+	8	1377	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	TRMT44_ENST00000513449.2_Silent_p.S218S	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		GAAGATACTCCCGGAGGCAGA	0.488000													33	31					0	0	0.00209593	0	0
COL11A1	1301	broad.mit.edu	37	1	103471820	103471820	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:103471820T>A	ENST00000358392.2	-	16	2088	c.1771A>T	c.(1771-1773)Agg>Tgg	p.R591W	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.R463W|COL11A1_ENST00000370096.3_Missense_Mutation_p.R579W|COL11A1_ENST00000353414.4_Missense_Mutation_p.R540W	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	579	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCCATACCCTTTTTCCAGGT	0.353000													54	81					0	0	0.000781405	0	0
LPA	4018	broad.mit.edu	37	6	161071527	161071527	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:161071527C>T	ENST00000447678.1	-	3	172	c.52G>A	c.(52-54)Gca>Aca	p.A18T	LPA_ENST00000316300.5_Missense_Mutation_p.A18T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2526					blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCTCAGGTGCTGCTAAAATT	0.423000													52	108					0	0	0.000781405	0	0
EPHA5	2044	broad.mit.edu	37	4	66280049	66280049	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:66280049C>T	ENST00000273854.3	-	7	2240	c.1640G>A	c.(1639-1641)gGc>gAc	p.G547D	EPHA5_ENST00000354839.4_Missense_Mutation_p.G547D|EPHA5_ENST00000511294.1_Missense_Mutation_p.G547D|EPHA5_ENST00000432638.2_Missense_Mutation_p.G383D	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	547	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACACCATAGCCTGCTGCTGT	0.408000										TSP Lung(17;0.13)			28	54					0	0	0.00127121	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100537734	100537734	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:100537734C>T	ENST00000268070.4	-	19	2757	c.2652G>A	c.(2650-2652)cgG>cgA	p.R884R		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	884	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGGTCACCTCCCGGTGCTGGA	0.677000													30	22					0	0	0.00209593	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934291	136934291	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:136934291G>A	ENST00000359015.4	-	17	2742	c.2382C>T	c.(2380-2382)ctC>ctT	p.L794L	MAP3K5_ENST00000355845.4_Silent_p.L41L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	794	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GATTGTCATGGAGATATTTTA	0.373000													18	55					0	0	0.00188189	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040531	147040531	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:147040531C>T	ENST00000265272.5	-	3	1074	c.607G>A	c.(607-609)Gag>Aag	p.E203K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E203K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E161K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	203						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATCCCGCTCCGACTCCCAC	0.502000													31	50					0	0	0.0024448	0	0
PITPNM1	9600	broad.mit.edu	37	11	67266146	67266146	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:67266146G>A	ENST00000356404.3	-	10	1630	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S	PITPNM1_ENST00000534749.1_Missense_Mutation_p.P469S|PITPNM1_ENST00000436757.2_Missense_Mutation_p.P469S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	469					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AAGGCCTCAGGGAAGTGGATG	0.662000													5	56					0	0	0.000602214	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6425066	6425066	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:6425066G>A	ENST00000449001.2	+	5	985	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R196Q|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R196Q|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R196Q	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	196	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AACCTGCAGCGAGTGGGACTG	0.677000													5	4					0	0	0.00116845	0	0
P2RX6	9127	broad.mit.edu	37	22	21377588	21377588	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:21377588C>T	ENST00000413302.2	+	7	811	c.663C>T	c.(661-663)gaC>gaT	p.D221D	P2RX6_ENST00000336296.2_Silent_p.D211D|P2RX6_ENST00000443995.3_Silent_p.D168D|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.D195D			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	221					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGACCTGGGACCCCACCTATT	0.582000													50	120					0	0	0.000781405	0	0
CECR6	27439	broad.mit.edu	37	22	17600384	17600384	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:17600384G>A	ENST00000331437.3	-	1	1759	c.1634C>T	c.(1633-1635)cCg>cTg	p.P545L	CECR6_ENST00000399875.1_Missense_Mutation_p.P190L	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	545	Poly-Pro.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AGGTGGTGGCGGAGGTGGTGG	0.697000													4	8					0	0	0.00024832	0	0
MYO18B	84700	broad.mit.edu	37	22	26165193	26165193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:26165193G>A	ENST00000335473.7	+	4	1560	c.1310G>A	c.(1309-1311)tGg>tAg	p.W437*	MYO18B_ENST00000407587.2_Nonsense_Mutation_p.W437*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.W437*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	437						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGGGAGGCTGGCCAGGAAGC	0.632000													4	12					0	0	0.000602214	0	0
CCDC158	339965	broad.mit.edu	37	4	77288469	77288469	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:77288469C>T	ENST00000388914.3	-	11	1960	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	603										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAGTTCCATCCGCCTATCATT	0.398000													29	80					0	0	0.0024448	0	0
RBM28	55131	broad.mit.edu	37	7	127961330	127961330	+	Missense_Mutation	SNP	G	G	A	rs138112810	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:127961330G>A	ENST00000223073.1	-	14	1666	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.R377C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	518	RRM 4.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCCTTGATGCGCACCCCTTTC	0.522000													102	82					0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100687013	100687013	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:100687013C>T	ENST00000306151.4	+	3	12380	c.12316C>T	c.(12316-12318)Ccc>Tcc	p.P4106S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4106						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCCTTCCCCACGGTGAC	0.537000													26	46					0	0	0.00047179	0	0
KLHL6	89857	broad.mit.edu	37	3	183209742	183209742	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:183209742C>T	ENST00000341319.3	-	7	1874	c.1839G>A	c.(1837-1839)agG>agA	p.R613R		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	613										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGGGCACGATCCTGCGGATGT	0.672000													25	42					0	0	0.000720815	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374606	113374606	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:113374606G>A	ENST00000316407.4	-	7	6333	c.5923C>T	c.(5923-5925)Ccc>Tcc	p.P1975S	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1975S|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1975					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATCTCTGGGGAACTGAAGAA	0.498000													15	30					0	0	0.00244969	0	0
PLIN5	440503	broad.mit.edu	37	19	4529248	4529248	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:4529248C>T	ENST00000381848.3	-	5	437	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	119						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCACCACGTCCTTGGCTGAGG	0.677000													30	27					0	0	0.0024448	0	0
ENGASE	64772	broad.mit.edu	37	17	77082173	77082173	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:77082173C>T	ENST00000579016.1	+	14	1974	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	658						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTCACAAGTCCGTTGCTTCC	0.637000													25	34					0	0	0.000720815	0	0
AGXT2	64902	broad.mit.edu	37	5	35040730	35040730	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:35040730G>A	ENST00000231420.6	-	2	327	c.127C>T	c.(127-129)Cat>Tat	p.H43Y		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	43					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGCTTTGTATGAAGACTGAGC	0.438000													56	103					0	0	0.000781405	0	0
KLRC3	3823	broad.mit.edu	37	12	10571034	10571034	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:10571034C>T	ENST00000396439.2	-	4	439	c.395G>A	c.(394-396)gGt>gAt	p.G132D	KLRC3_ENST00000381903.2_Missense_Mutation_p.G132D|KLRC3_ENST00000381904.2_Missense_Mutation_p.G132D|NKG2-E_ENST00000539033.1_Missense_Mutation_p.G132D	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTTCCTTACCAATGTAATA	0.368000													45	93					0	0	0.000781405	0	0
ZFR	51663	broad.mit.edu	37	5	32400223	32400223	+	Silent	SNP	A	A	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:32400223A>C	ENST00000265069.8	-	9	1704	c.1602T>G	c.(1600-1602)gcT>gcG	p.A534A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	534					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GAATCTGCACAGCAGAAGTGA	0.433000													11	47					0	0	0.000978159	0	0
CNGA3	1261	broad.mit.edu	37	2	99012839	99012839	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:99012839G>A	ENST00000393504.1	+	8	1623	c.1206G>A	c.(1204-1206)atG>atA	p.M402I	CNGA3_ENST00000272602.2_Missense_Mutation_p.M402I|CNGA3_ENST00000436404.2_Missense_Mutation_p.M384I|CNGA3_ENST00000409937.1_Missense_Mutation_p.M406I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	402					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGGCTCCATGATCTCGAATA	0.517000													30	54					0	0	0.00178596	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867837	45867837	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:45867837G>A	ENST00000311275.7	-	15	2523	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	ZMYND8_ENST00000446994.2_Missense_Mutation_p.P694L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P777L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P757L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P784L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P757L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P705L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P752L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P752L|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P777L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P757L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P777L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	757							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGTTTCCGGGGGAGAATGGCT	0.587000													33	90					0	0	0.00148497	0	0
DNAH7	56171	broad.mit.edu	37	2	196801382	196801382	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:196801382G>A	ENST00000312428.6	-	20	3313	c.3213C>T	c.(3211-3213)ttC>ttT	p.F1071F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1071	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAAAAAAAAGAATCTGGGGA	0.328000													29	64					0	0	0.00178596	0	0
CDK16	5127	broad.mit.edu	37	X	47083085	47083085	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:47083085C>T	ENST00000457458.2	+	2	567	c.147C>T	c.(145-147)gaC>gaT	p.D49D	CDK16_ENST00000518022.1_Silent_p.D43D|CDK16_ENST00000357227.4_Silent_p.D43D|CDK16_ENST00000276052.6_Silent_p.D117D	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	43							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GCGGCAGTGACCCTGGAGAGG	0.632000													9	19					0	0	0.000442599	0	0
VWA5A	4013	broad.mit.edu	37	11	124016027	124016027	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:124016027G>A	ENST00000456829.2	+	18	2489	c.2238G>A	c.(2236-2238)gaG>gaA	p.E746E	VWA5A_ENST00000392748.1_Silent_p.E746E|VWA5A_ENST00000360334.4_3'UTR	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	746										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTGAATGGGAGCTTCTGGAAA	0.582000													24	29					0	0	0.00047179	0	0
CAMLG	819	broad.mit.edu	37	5	134086595	134086595	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:134086595C>T	ENST00000297156.2	+	4	966	c.846C>T	c.(844-846)atC>atT	p.I282I	CAMLG_ENST00000514518.1_3'UTR	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	282					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TCACTTTTATCTTTTGTCATG	0.383000													18	25					0	0	0.00074312	0	0
AEN	64782	broad.mit.edu	37	15	89172573	89172573	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:89172573C>G	ENST00000332810.3	+	3	808	c.657C>G	c.(655-657)aaC>aaG	p.N219K	AEN_ENST00000379231.3_Missense_Mutation_p.N219K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	219	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATGTCCCAAACTTCCTCAGCG	0.642000													56	32					0	0	0.000781405	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													5	74					0	0	0.000602214	0	0
ZNF775	285971	broad.mit.edu	37	7	150095105	150095105	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:150095105C>T	ENST00000329630.5	+	3	1643	c.1536C>T	c.(1534-1536)agC>agT	p.S512S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCTTCAGCCAGAAGCAGC	0.726000													3	6					0	0	6.4e-05	0	0
SF3A1	10291	broad.mit.edu	37	22	30735185	30735185	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:30735185G>A	ENST00000439242.1	-	10	1367	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	SF3A1_ENST00000215793.7_Silent_p.F477F	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	477					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCTCTACACCGAAGATGTCAG	0.488000													49	105					0	0	0.000781405	0	0
SLC5A6	8884	broad.mit.edu	37	2	27424713	27424713	+	Silent	SNP	A	A	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:27424713A>C	ENST00000310574.3	-	14	1838	c.1365T>G	c.(1363-1365)ggT>ggG	p.G455G	SLC5A6_ENST00000408041.1_Silent_p.G455G|SLC5A6_ENST00000461319.1_5'UTR	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	455					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCACAACAGCACCCTGCCGAG	0.642000													6	15					0	0	0.000442599	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561157	145561157	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:145561157A>T	ENST00000355594.4	+	10	932	c.845A>T	c.(844-846)gAa>gTa	p.E282V	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	282										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGAGCCTGAAGAGGAGCAA	0.552000													13	35					0	0	0.000308642	0	0
ZNF232	7775	broad.mit.edu	37	17	5012287	5012287	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:5012287C>T	ENST00000250076.3	-	4	1213	c.559G>A	c.(559-561)Gga>Aga	p.G187R	ZNF232_ENST00000575898.1_Missense_Mutation_p.G187R|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	160					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGGGCTGCTCCCAGAGATTCC	0.562000													53	63					0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86415877	86415877	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:86415877G>A	ENST00000361669.2	+	3	1868	c.769G>A	c.(769-771)Gac>Aac	p.D257N	GRM3_ENST00000394720.2_Missense_Mutation_p.D255N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.D129N|GRM3_ENST00000439827.1_Missense_Mutation_p.D257N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	257					synaptic transmission	integral to plasma membrane		p.D257H(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGTCCTACGACAGCGTGAT	0.647000													23	44					0	0	0.00278032	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340578	107340578	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:107340578C>T	ENST00000265715.3	+	15	1889	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Silent_p.F116F|SLC26A4_ENST00000544569.1_Silent_p.F142F|SLC26A4_ENST00000543100.1_Silent_p.F124F	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	555	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTCCTATTTTCTATGGCAATG	0.323000									Pendred syndrome				22	46					0	0	0.000586117	0	0
FAM47B	170062	broad.mit.edu	37	X	34961617	34961617	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:34961617C>T	ENST00000329357.5	+	1	705	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	223	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCCAGTCTCCGCCCAGAGC	0.657000													21	40					0	0	0.00047179	0	0
FOXP1	27086	broad.mit.edu	37	3	71247393	71247393	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:71247393C>T	ENST00000318789.4	-	6	665	c.140G>A	c.(139-141)gGg>gAg	p.G47E	FOXP1_ENST00000318779.3_Missense_Mutation_p.G47E|FOXP1_ENST00000498215.1_Missense_Mutation_p.G47E|FOXP1_ENST00000493089.1_Missense_Mutation_p.G47E|FOXP1_ENST00000468577.1_Missense_Mutation_p.G47E|FOXP1_ENST00000475937.1_Missense_Mutation_p.G47E|FOXP1_ENST00000484350.1_Missense_Mutation_p.G47E	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	47					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCAGCTGCCCCGATGTCCAC	0.627000			T	PAX5	ALL								42	177					0	0	0.00170553	0	0
HDX	139324	broad.mit.edu	37	X	83599324	83599324	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:83599324C>T	ENST00000297977.5	-	6	1705	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	HDX_ENST00000506585.2_Missense_Mutation_p.E474K|HDX_ENST00000373177.2_Missense_Mutation_p.E532K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	532						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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						TCTCCTACTTCAGGCCCAGCT	0.453000													9	25					0	0	0.000978159	0	0
PXDNL	137902	broad.mit.edu	37	8	52359701	52359701	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:52359701C>T	ENST00000356297.4	-	12	1488	c.1388G>A	c.(1387-1389)gGc>gAc	p.G463D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G463D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	463	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTATGCTGGCCTTCCACAGG	0.522000													34	72					0	0	0.0024448	0	0
FGD3	89846	broad.mit.edu	37	9	95738973	95738973	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:95738973G>A	ENST00000375482.3	+	3	931	c.435G>A	c.(433-435)aaG>aaA	p.K145K	FGD3_ENST00000337352.6_Silent_p.K145K|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Silent_p.K145K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	145					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGCTGACAAGGATGCCGGCC	0.642000													12	26					0	0	0.00136819	0	0
HDAC9	9734	broad.mit.edu	37	7	18975497	18975497	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:18975497G>A	ENST00000406451.3	+	23	3010	c.2860G>A	c.(2860-2862)Gga>Aga	p.G954R	HDAC9_ENST00000441542.2_Missense_Mutation_p.G957R|HDAC9_ENST00000432645.2_Missense_Mutation_p.G954R|HDAC9_ENST00000401921.1_Missense_Mutation_p.G913R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	954	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCTCTAGAAGGAGGACATGA	0.418000													71	143					0	0	0.000781405	0	0
MSLNL	401827	broad.mit.edu	37	16	824291	824291	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:824291G>A	ENST00000293892.3	-	9	1864	c.1865C>T	c.(1864-1866)tCg>tTg	p.S622L	MSLNL_ENST00000442466.1_Missense_Mutation_p.S271L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	271					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CACCTGGCACGAAGCCACCAC	0.697000													6	3					0	0	0.00116845	0	0
SPAST	6683	broad.mit.edu	37	2	32352039	32352039	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:32352039C>T	ENST00000315285.3	+	8	1246	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	SPAST_ENST00000345662.1_Missense_Mutation_p.P342L	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	374	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTTAGAGCTCCTGCCAGAGGG	0.383000													12	40					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179438868	179438868	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179438868G>A	ENST00000589042.1	-	326	72215	c.71991C>T	c.(71989-71991)ttC>ttT	p.F23997F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.F22356F|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.F15124F|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.F15057F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.F21429F|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.F14932F|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22356	Fibronectin type-III 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CGATCACACGGAATTCATATG	0.473000													20	63					0	0	0.00188189	0	0
CPT1C	126129	broad.mit.edu	37	19	50208316	50208316	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:50208316C>T	ENST00000392518.4	+	9	1196	c.824C>T	c.(823-825)gCc>gTc	p.A275V	CPT1C_ENST00000405931.2_Missense_Mutation_p.A264V|CPT1C_ENST00000354199.5_Missense_Mutation_p.A275V|CPT1C_ENST00000323446.5_Missense_Mutation_p.A275V|CPT1C_ENST00000598293.1_Missense_Mutation_p.A275V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	275					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTGGGAATGCCGTCCATGCC	0.647000													21	44					0	0	0.00188189	0	0
SYNRG	11276	broad.mit.edu	37	17	35880722	35880722	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:35880722G>A	ENST00000339208.6	-	20	3836	c.3696C>T	c.(3694-3696)tcC>tcT	p.S1232S	SYNRG_ENST00000346661.4_Silent_p.S1232S|SYNRG_ENST00000394378.2_Silent_p.S1177S|SYNRG_ENST00000345615.4_Silent_p.S1154S|SYNRG_ENST00000585472.1_Silent_p.S1153S|SYNRG_ENST00000502449.2_Silent_p.S1109S|SYNRG_ENST00000591288.1_Silent_p.S1026S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1232					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTAACATACAGGAGGAAAAAT	0.512000													28	31					0	0	0.00283554	0	0
ZNFX1	57169	broad.mit.edu	37	20	47869279	47869279	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:47869279G>A	ENST00000396105.1	-	12	3440	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.P1065L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P1065L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1065							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACGGACAAAGGGAATGTTTAC	0.507000													37	103					0	0	0.000953801	0	0
ADAT1	23536	broad.mit.edu	37	16	75646173	75646173	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:75646173G>A	ENST00000307921.3	-	7	1156	c.1011C>T	c.(1009-1011)agC>agT	p.S337S		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	337	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TGGCTTCCTGGCTGTATGGGC	0.552000													21	31					0	0	0.000720815	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252092	26252092	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:26252092G>A	ENST00000356350.2	+	1	214	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	72					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGATATCTTCGAGCGCATCGC	0.577000													39	91					0	0	0.00111076	0	0
INCENP	3619	broad.mit.edu	37	11	61895761	61895761	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:61895761G>A	ENST00000394818.3	+	2	330	c.128G>A	c.(127-129)cGc>cAc	p.R43H	INCENP_ENST00000278849.4_Missense_Mutation_p.R43H	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	43					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGGCCGAGCGCATGTTCACC	0.572000													23	29					0	0	0.000720815	0	0
CYP3A5	1577	broad.mit.edu	37	7	99258142	99258142	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:99258142C>T	ENST00000343703.5	-	11	1362	c.976G>A	c.(976-978)Gat>Aat	p.D326N	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.D336N					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					AAAACTGCATCAATCTCCTTT	0.478000													40	97					0	0	0.00170553	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455836	5455836	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:5455836G>A	ENST00000222033.4	+	1	411	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	112						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGCTCGGTGGACTTTGCGGA	0.662000													43	30					0	0	0.000781405	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911364	54911364	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:54911364C>T	ENST00000293373.6	+	12	1222	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	NCKAP1L_ENST00000545638.2_Silent_p.T331T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	381					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGAGGTCACCTGGCTGGTTC	0.438000													40	63					0	0	0.00285205	0	0
SYCP2L	221711	broad.mit.edu	37	6	10942729	10942729	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:10942729C>T	ENST00000283141.6	+	22	2147	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	617						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGCTCTCTTCCTTGAAGCACT	0.353000													7	22					0	0	0.00198382	0	0
CELF4	56853	broad.mit.edu	37	18	34839127	34839127	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:34839127C>T	ENST00000588597.1	-	11	1323	c.1314G>A	c.(1312-1314)tcG>tcA	p.S438S	CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Intron|CELF4_ENST00000591287.1_Intron|CELF4_ENST00000591282.1_Intron|CELF4_ENST00000420428.2_Intron|CELF4_ENST00000361795.5_Intron|CELF4_ENST00000601019.1_Intron|CELF4_ENST00000412753.1_Intron			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	83	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CAAACACTTTCGAGGAGATGA	0.517000													33	36					0	0	0.000692331	0	0
ANXA2	302	broad.mit.edu	37	15	60646353	60646353	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:60646353C>T	ENST00000396024.3	-	9	747	c.588_splice	c.e9+1	p.R196_splice	ANXA2_ENST00000451270.2_Splice_Site_p.R196_splice|ANXA2_ENST00000421017.2_Splice_Site_p.R196_splice|ANXA2_ENST00000332680.4_Splice_Site_p.R214_splice	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	196					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CAGCACTTACCCGAGCATCTT	0.383000													14	7					0	0	0.000308642	0	0
PID1	55022	broad.mit.edu	37	2	229890441	229890441	+	Silent	SNP	C	C	T	rs140609082		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:229890441C>T	ENST00000392054.3	-	4	993	c.654G>A	c.(652-654)agG>agA	p.R218R	PID1_ENST00000392055.3_Silent_p.R187R|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Silent_p.R220R|PID1_ENST00000409462.1_Silent_p.R138R	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	220	PID.					cytoplasm				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)		GGAAAGTCTTCCTGAAGGCCT	0.552000													43	66					0	0	0.0025221	0	0
DEF6	50619	broad.mit.edu	37	6	35280208	35280208	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:35280208C>T	ENST00000316637.5	+	4	558	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	185						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CTGGCAGTTCCTGGAGCTCTT	0.657000													25	72					0	0	0.000586117	0	0
NUDT9	53343	broad.mit.edu	37	4	88356186	88356186	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:88356186C>T	ENST00000473942.1	+	2	133	c.11C>T	c.(10-12)tCt>tTt	p.S4F	NUDT9_ENST00000302174.4_Missense_Mutation_p.S54F	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	54						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGTCTGGTTCTAATGGTTCC	0.383000													12	35					0	0	0.000978159	0	0
NLRP2	55655	broad.mit.edu	37	19	55505685	55505685	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:55505685G>A	ENST00000543010.1	+	11	2900	c.2757G>A	c.(2755-2757)aaG>aaA	p.K919K	NLRP2_ENST00000427260.2_Silent_p.K896K|NLRP2_ENST00000448584.2_Silent_p.K919K|NLRP2_ENST00000263437.6_Silent_p.K916K|NLRP2_ENST00000537859.1_Silent_p.K897K|NLRP2_ENST00000339757.7_Silent_p.K897K|NLRP2_ENST00000538819.1_Silent_p.K895K|NLRP2_ENST00000391721.4_Silent_p.K895K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	919					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCTCACAAAGCTTCTCCAAG	0.468000													36	109					0	0	0.00148497	0	0
TPTE2	93492	broad.mit.edu	37	13	20004653	20004653	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:20004653C>T	ENST00000400230.2	-	17	1301	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	TPTE2_ENST00000382978.1_Missense_Mutation_p.M379I|TPTE2_ENST00000255310.6_Missense_Mutation_p.M342I|TPTE2_ENST00000382975.4_Missense_Mutation_p.M379I|TPTE2_ENST00000457266.2_Missense_Mutation_p.M308I|TPTE2_ENST00000400103.2_Missense_Mutation_p.M308I|TPTE2_ENST00000390680.2_Missense_Mutation_p.M342I|TPTE2_ENST00000382977.4_Missense_Mutation_p.M419I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	419	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTTTCTCCATTACTACTT	0.328000													14	30					0	0	0.00074312	0	0
ZAN	7455	broad.mit.edu	37	7	100386959	100386959	+	RNA	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:100386959G>A	ENST00000542585.1	+	0	7492				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGGTGGAAGGAAAAATGCAG	0.537000													28	79					0	0	0.00209593	0	0
ZNF474	133923	broad.mit.edu	37	5	121488488	121488488	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:121488488C>T	ENST00000296600.4	+	2	1186	c.803C>T	c.(802-804)cCc>cTc	p.P268L	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	268						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAGCCTCAGCCCCTTCCGAAT	0.542000													24	13					0	0	0.00127121	0	0
PZP	5858	broad.mit.edu	37	12	9309907	9309907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:9309907C>T	ENST00000261336.2	-	28	3442	c.3414G>A	c.(3412-3414)tgG>tgA	p.W1138*	PZP_ENST00000381997.2_Nonsense_Mutation_p.W924*	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGCTACATTCCAGGCTGACT	0.488000													25	52					0	0	0.000878237	0	0
CLCN5	1184	broad.mit.edu	37	X	49855487	49855487	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:49855487C>T	ENST00000376088.3	+	14	2945	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	CLCN5_ENST00000307367.2_Silent_p.I698I|CLCN5_ENST00000376108.3_Silent_p.I698I|CLCN5_ENST00000376091.3_Silent_p.I768I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	698					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	p.I698I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCATGGAGATCGTAGTGGATA	0.488000													21	45					0	0	0.00229938	0	0
SPEG	10290	broad.mit.edu	37	2	220338231	220338231	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:220338231A>G	ENST00000312358.7	+	17	4285	c.4153A>G	c.(4153-4155)Acc>Gcc	p.T1385A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1385	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGGCCCAACCCTGGAGGA	0.602000													35	56					0	0	0.0024448	0	0
MAVS	57506	broad.mit.edu	37	20	3844945	3844945	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:3844945C>T	ENST00000428216.2	+	6	796	c.668C>T	c.(667-669)cCa>cTa	p.P223L	MAVS_ENST00000416600.2_Missense_Mutation_p.P82L|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	223					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGTGTCTCCATCTGTCTCC	0.602000													37	101					0	0	0.0025221	0	0
IPO8	10526	broad.mit.edu	37	12	30818721	30818721	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:30818721G>A	ENST00000256079.4	-	12	1618	c.1280C>T	c.(1279-1281)cCt>cTt	p.P427L	IPO8_ENST00000544829.1_Missense_Mutation_p.P222L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	427					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTCTTCCTAGGGTCAAAGTT	0.353000													20	42					0	0	0.00229938	0	0
ASZ1	136991	broad.mit.edu	37	7	117062383	117062383	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:117062383C>T	ENST00000284629.2	-	3	298	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	79					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGGAGTCCATCCATACTGAAA	0.413000													30	37					0	0	0.001512	0	0
RIMS2	9699	broad.mit.edu	37	8	105026819	105026819	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:105026819C>T	ENST00000507740.1	+	17	2988	c.2752C>T	c.(2752-2754)Cca>Tca	p.P918S	RIMS2_ENST00000262231.10_Missense_Mutation_p.P943S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P844S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1104S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1166					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCACAGCTTCCACCAAAGGG	0.448000										HNSCC(12;0.0054)			13	46					0	0	0.000422831	0	0
MAT2A	4144	broad.mit.edu	37	2	85770138	85770138	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:85770138C>T	ENST00000306434.3	+	8	1189	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	MAT2A_ENST00000409017.1_Missense_Mutation_p.R293C	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	356					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTTCGATCTCCGCCCTGGGGT	0.428000													35	50					0	0	0.000814825	0	0
SCN7A	6332	broad.mit.edu	37	2	167273342	167273342	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:167273342G>A	ENST00000409855.1	-	20	3415	c.3289C>T	c.(3289-3291)Cct>Tct	p.P1097S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1097					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAGATGAAGGAAACCTTTCT	0.388000													11	19					0	0	0.000978159	0	0
STAC3	246329	broad.mit.edu	37	12	57640632	57640632	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:57640632G>A	ENST00000332782.2	-	6	759	c.558C>T	c.(556-558)atC>atT	p.I186I	STAC3_ENST00000554578.1_Silent_p.I147I|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	186					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TGTTTGCCATGATCACCCCAG	0.507000													74	117					0	0	0.000781405	0	0
BCO2	83875	broad.mit.edu	37	11	112088573	112088573	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:112088573C>T	ENST00000357685.5	+	12	1851	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	BCO2_ENST00000438022.1_Silent_p.F538F|BCO2_ENST00000526088.1_Silent_p.F532F|BCO2_ENST00000393032.2_Silent_p.F538F|BCO2_ENST00000361053.4_Silent_p.F499F|BCO2_ENST00000532593.1_Silent_p.F467F|BCO2_ENST00000531169.1_Silent_p.F538F			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	572					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CTTATGGGTTCCATGGTACCT	0.423000													15	20					0	0	0.000422831	0	0
MUC17	140453	broad.mit.edu	37	7	100687014	100687014	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:100687014C>T	ENST00000306151.4	+	3	12381	c.12317C>T	c.(12316-12318)cCc>cTc	p.P4106L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4106						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTCCTTCCCCACGGTGACC	0.537000													26	46					0	0	0.00047179	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:121761086G>A	ENST00000261367.7	+	7	2611	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379538.3_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000													49	46					0	0	0.000781405	0	0
PCDH12	51294	broad.mit.edu	37	5	141336315	141336315	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:141336315G>A	ENST00000231484.3	-	1	2312	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	368	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTTGGGAAGAGCTTCT	0.507000													42	49					0	0	0.00222228	0	0
FOLH1	2346	broad.mit.edu	37	11	49179583	49179583	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:49179583C>T	ENST00000340334.7	-	15	1776	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	FOLH1_ENST00000533034.1_Missense_Mutation_p.D470N|FOLH1_ENST00000256999.2_Missense_Mutation_p.D485N|FOLH1_ENST00000343844.4_Missense_Mutation_p.D177N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D485N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	485	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAGCCTTCATCAGGGCTTTTC	0.343000													6	56					0	0	0.000157383	0	0
NCR1	9437	broad.mit.edu	37	19	55420724	55420724	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:55420724G>A	ENST00000594765.1	+	4	501	c.476G>A	c.(475-477)gGa>gAa	p.G159E	NCR1_ENST00000350790.5_Missense_Mutation_p.G64E|NCR1_ENST00000338835.5_Missense_Mutation_p.G159E|NCR1_ENST00000291890.4_Missense_Mutation_p.G159E|NCR1_ENST00000598576.1_Missense_Mutation_p.G147E|NCR1_ENST00000357397.5_Missense_Mutation_p.G52E|NCR1_ENST00000447255.1_Missense_Mutation_p.G159E			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	159	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTCAAGGAGGGAAGATCCAGC	0.582000													26	43					0	0	0.000586117	0	0
MAT2B	27430	broad.mit.edu	37	5	162944660	162944660	+	Missense_Mutation	SNP	C	C	T	rs77428501		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:162944660C>T	ENST00000280969.5	+	6	1062	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	MAT2B_ENST00000521838.1_3'UTR|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000321757.6_Missense_Mutation_p.P272S	NM_182796.1	NP_877725.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	272					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTCAACCTCCCCAGCAGTCA	0.403000													14	11					0	0	0.000422831	0	0
UBLCP1	134510	broad.mit.edu	37	5	158697388	158697388	+	Silent	SNP	C	C	T	rs145226059		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:158697388C>T	ENST00000296786.6	+	4	593	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	89						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGTCCACCCCCTGACAATG	0.313000													25	42					0	0	0.00127121	0	0
KCNK10	54207	broad.mit.edu	37	14	88693821	88693821	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:88693821G>A	ENST00000340700.5	-	4	1015	c.564C>T	c.(562-564)gcC>gcT	p.A188A	KCNK10_ENST00000312350.5_Silent_p.A193A|KCNK10_ENST00000319231.5_Silent_p.A193A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	188					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTCCAAAGATGGCATATAAAA	0.413000													39	95					0	0	0.00170553	0	0
AGAP1	116987	broad.mit.edu	37	2	236708045	236708045	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:236708045C>T	ENST00000409538.1	+	8	2127	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	AGAP1_ENST00000409457.1_Missense_Mutation_p.S279F|AGAP1_ENST00000304032.7_Missense_Mutation_p.S279F|AGAP1_ENST00000336665.5_Missense_Mutation_p.S279F|AGAP1_ENST00000428334.2_Missense_Mutation_p.S118F			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	279	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCGACTATTCCTCCTCCGTT	0.507000													13	44					0	0	0.00136819	0	0
OR1L8	138881	broad.mit.edu	37	9	125330013	125330013	+	Silent	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:125330013C>T	ENST00000304865.2	-	1	825	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAGCGTCACCACGGTGAGGT	0.453000													23	18					0	0	0.00188189	0	0
FLT3	2322	broad.mit.edu	37	13	28588626	28588626	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:28588626G>A	ENST00000380982.4	-	23	2912	c.2831C>T	c.(2830-2832)tCg>tTg	p.S944L	FLT3_ENST00000241453.7_Missense_Mutation_p.S941L|FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000537084.1_Missense_Mutation_p.S900L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	941					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTAAAAACGAAGTCAAATT	0.388000			"""Mis, O"""		"""AML, ALL"""								23	48					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179604664	179604664	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179604664G>A	ENST00000589042.1	-	48	13520	c.13296C>T	c.(13294-13296)atC>atT	p.I4432I	TTN_ENST00000591111.1_Silent_p.I4115I|TTN_ENST00000342175.6_Silent_p.I4261I|TTN_ENST00000359218.5_Silent_p.I4194I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.I4069I|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4115	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			GCTCTTGGGTGATGTTTACAG	0.473000													30	83					0	0	0.001512	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:219000488C>T	ENST00000318507.2	+	3	1391	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000													43	74					0	0	0.000781405	0	0
CDH6	1004	broad.mit.edu	37	5	31267675	31267675	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:31267675C>A	ENST00000265071.2	+	2	360	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	32					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGGTTTCCCAGCAAAGAAA	0.488000													34	56					8.73648e-17	4.43336e-16	0.000814825	1	0
TYK2	7297	broad.mit.edu	37	19	10476451	10476451	+	Silent	SNP	G	G	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:10476451G>A	ENST00000525621.1	-	7	1234	c.753C>T	c.(751-753)tcC>tcT	p.S251S	TYK2_ENST00000524462.1_Silent_p.S66S|TYK2_ENST00000529370.1_Silent_p.S251S|TYK2_ENST00000264818.6_Silent_p.S251S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	251	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCATCTGCTGGGAGAGTCGGC	0.677000													7	8					0	0	0.000157383	0	0
AKAP7	9465	broad.mit.edu	37	6	131520696	131520696	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:131520696C>T	ENST00000431975.2	+	6	783	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	AKAP7_ENST00000368123.4_Missense_Mutation_p.P207S|AKAP7_ENST00000541650.1_Missense_Mutation_p.P228S	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GTCAAAATCACCGTGGCTCCG	0.448000											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23					0	0	0.00198382	0	0
RNF31	55072	broad.mit.edu	37	14	24618780	24618780	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:24618780A>T	ENST00000324103.6	+	6	1117	c.797A>T	c.(796-798)cAc>cTc	p.H266L	RNF31_ENST00000559275.1_Missense_Mutation_p.H115L|RNF31_ENST00000382687.3_Missense_Mutation_p.H115L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	266	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CAGGGTACCCACCTGAGCCCC	0.552000													28	50					0	0	0.00127121	0	0
ADCY3	109	broad.mit.edu	37	2	25141322	25141324	+	In_Frame_Del	DEL	AGG	AGG	-	rs140278293		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:25141322_25141324delAGG	ENST00000260600.5	-	1	1384_1386	c.533_535delCCT	c.(532-537)ttc>t	p.SF178del		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	178					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			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)					GTGATGAAGAAGGAGAAGACAAA	0.616													17	23	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													7	102	---	---	---	---					
REPS1	85021	broad.mit.edu	37	6	139235874	139235887	+	Frame_Shift_Del	DEL	GCAACAACTCCAGC	GCAACAACTCCAGC	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:139235874_139235887delGCAACAACTCCAGC	ENST00000450536.2	-	15	2306_2319	c.1732_1745delGCTGGAGTTGTTGC	c.(1732-1746)cfs	p.AGVVA578fs	REPS1_ENST00000409812.2_Frame_Shift_Del_p.AGVVA487fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.AGVVA577fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.AGVVA551fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.AGVVA551fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	578	Pro-rich.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AGGAGGATGGGCAACAACTCCAGCCTGTTGTTGT	0.397													7	65	---	---	---	---					
KIAA1429	25962	broad.mit.edu	37	8	95503845	95503845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:95503845delG	ENST00000297591.5	-	22	5176	c.5101delC	c.(5101-5103)acfs	p.H1701fs	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1701					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCTGACTGTGGAAAGCACCC	0.398													27	75	---	---	---	---					
GRIN3A	116443	broad.mit.edu	37	9	104432476	104432477	+	Frame_Shift_Ins	INS	-	-	ACAT			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:104432476_104432477insACAT	ENST00000361820.3	-	3	2817_2818	c.2217_2218insATGT	c.(2215-2220)tgggacfs	p.WD739fs		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	739					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTCCAGTCCAACATTTTGGAG	0.441													11	36	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													7	12	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													6	5	---	---	---	---					
ASXL3	80816	broad.mit.edu	37	18	31323656	31323656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:31323656delT	ENST00000269197.5	+	12	3844	c.3844delT	c.(3844-3846)tafs	p.L1282fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1282	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TATAAGCATGTTAAAAACCAT	0.393													30	77	---	---	---	---					
ZNF407	55628	broad.mit.edu	37	18	72344370	72344381	+	In_Frame_Del	DEL	AACACAGATGAA	AACACAGATGAA	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:72344370_72344381delAACACAGATGAA	ENST00000299687.5	+	1	1395_1406	c.1395_1406delAACACAGATGAA	c.(1393-1407)aga>ag	p.RTQMK465del	ZNF407_ENST00000577538.1_In_Frame_Del_p.RTQMK465del|ZNF407_ENST00000309902.6_In_Frame_Del_p.RTQMK465del|ZNF407_ENST00000582337.1_In_Frame_Del_p.RTQMK465del	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AACACTTGAGAACACAGATGAAAACACACGAT	0.458													30	50	---	---	---	---