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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
DNM1L	10059	broad.mit.edu	37	12	32861115	32861117	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:32861115_32861117delAAG	ENST00000452533.2	+	4	490_492	c.326_328delAAG	c.(325-330)caagaa>caa	p.E110del	DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_In_Frame_Del_p.E110del|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	110	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAATTCGACAAGAAATTGAAAA	0.291		NA											False	1	False	12:32861115	0
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638		NA											False	1	False	12:49445039	0
NFE2	4778	broad.mit.edu	37	12	54687147	54687148	+	Frame_Shift_Ins	INS	-	-	TATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:54687147_54687148insTATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA	ENST00000540264.2	-	2	641_642	c.132_133insTAGCTAGAAGAACAAGAACATGGCTAAATATTTTCACATA	c.(130-135)agtgagfs	p.E45fs	NFE2_ENST00000553070.1_Frame_Shift_Ins_p.E45fs|NFE2_ENST00000312156.4_Frame_Shift_Ins_p.E45fs|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Frame_Shift_Ins_p.E45fs			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	45	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AATGATGGCTCACTTGGAGCAT	0.51		NA											False	0	False	12:54687147	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55		NA											False	1	True	20:46279833	0
MN1	4330	broad.mit.edu	37	22	28194913	28194945	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	-	rs45480998		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	-	-	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194913_28194945delTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	ENST00000302326.4	-	1	2541_2573	c.1587_1619delGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCA	c.(1585-1620)cagcagcagcagcaacagcagcagcagcagcagcaa>caa	p.529_540QQQQQQQQQQQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.						binding	p.Q550_R551insQ(1)|p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgttgctgttgctgctgctgctgctgctgttgctgctgctgctgctgctgct	0.661		NA	T	ETV6	"""AML, meningioma"""								False	1	True	22:28194913	0
RBMX	27316	broad.mit.edu	37	X	135958816	135958817	+	Splice_Site	DEL	TG	TG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	NA						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396		NA											False	1	False	X:135958816	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
C5	727	broad.mit.edu	37	9	123785771	123785772	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:123785771_123785772insT	ENST00000223642.1	-	10	1055_1056	c.1026_1027insA	c.(1024-1029)atacctfs	p.P343fs		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	343					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTGATGCCAGGTATTTCTGCCT	0.411		NA											False	1	False	9:123785771	0
ZNF365	22891	broad.mit.edu	37	10	64136259	64136259	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:64136259A>T	ENST00000395254.3	+	2	587	c.307A>T	c.(307-309)Agc>Tgc	p.S103C	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAACTTGTACAGCATTTCACA	0.498		NA											False	0	False	10:64136259	0
ZNF500	26048	broad.mit.edu	37	16	4803036	4803036	+	Missense_Mutation	SNP	C	C	T	rs142409847		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:4803036C>T	ENST00000219478.6	-	6	1083	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S			O60304	ZN500_HUMAN	zinc finger protein 500	262					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCATCACCGCCGTCCTCCAAC	0.587		NA											False	0	False	16:4803036	0
SBNO1	55206	broad.mit.edu	37	12	123780517	123780517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:123780517G>A	ENST00000420886.2	-	31	4119	c.4120C>T	c.(4120-4122)Caa>Taa	p.Q1374*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q1374*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1374							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTTTCTGTTGGACCGCAAGC	0.438		NA											False	0	False	12:123780517	0
RSPH10B2	728194	broad.mit.edu	37	7	6797473	6797473	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:6797473G>A	ENST00000403107.1	+	2	552	c.165G>A	c.(163-165)gtG>gtA	p.V55V	RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V					radial spoke head 10 homolog B2 (Chlamydomonas)	NA										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TCAACGAAGTGAAACCCAAAA	0.453		NA											False	0	True	7:6797473	0
KIF1A	547	broad.mit.edu	37	2	241713624	241713624	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:241713624T>C	ENST00000498729.2	-	12	1259	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	KIF1A_ENST00000320389.7_Missense_Mutation_p.Y338C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	338	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCATCGTAGTTGATGTC	0.572		NA											False	0	False	2:241713624	0
LMF2	91289	broad.mit.edu	37	22	50941833	50941833	+	Missense_Mutation	SNP	C	C	T	rs144342127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:50941833C>T	ENST00000216080.5	-	14	2204	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000474879.2_Missense_Mutation_p.R704Q			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	704						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTTTCGCCGGGTGGTCCT	0.672		NA											False	0	True	22:50941833	0
PRPF39	55015	broad.mit.edu	37	14	45578898	45578898	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:45578898T>C	ENST00000355765.6	+	8	1261	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	364					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAATTTGAAATTGAAAATGGG	0.333		NA											False	0	True	14:45578898	0
PITPNM1	9600	broad.mit.edu	37	11	67262964	67262964	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:67262964G>A	ENST00000356404.3	-	16	2652	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000534749.1_Silent_p.A809A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	809	DDHD.				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						GGGGGTCAGTGGCCAACTCAC	0.647		NA											False	0	False	11:67262964	0
MN1	4330	broad.mit.edu	37	22	28194945	28194945	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgctgctgct	0.647		NA	T	ETV6	"""AML, meningioma"""								False	0	True	22:28194945	0
PKD1L1	168507	broad.mit.edu	37	7	47970835	47970835	+	Silent	SNP	C	C	T	rs141425680		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:47970835C>T	ENST00000289672.2	-	6	653	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	201					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCACATCCTCCGCACAGCACA	0.607		NA											False	0	True	7:47970835	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31837984	31837984	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:31837984C>T	ENST00000397525.1	-	17	2550	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	776						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTGGTGTAACGGTTGGCCTG	0.507		NA											False	0	False	22:31837984	0
TENM4	26011	broad.mit.edu	37	11	78440582	78440582	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:78440582G>A	ENST00000278550.7	-	22	3707	c.3245C>T	c.(3244-3246)cCg>cTg	p.P1082L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						GGGGATGGTCGGGTGGGTGAG	0.577		NA											False	0	True	11:78440582	0
SALL2	6297	broad.mit.edu	37	14	21991588	21991588	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:21991588C>T	ENST00000327430.3	-	2	2568	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.P621P	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	758							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTCCTCTTCCGGTGATGGCT	0.577		NA											False	0	False	14:21991588	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			False	0	False	17:7577120	0
NUP210	23225	broad.mit.edu	37	3	13360637	13360637	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:13360637G>A	ENST00000254508.5	-	39	5580	c.5498C>T	c.(5497-5499)aCg>aTg	p.T1833M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1833					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCCCGGGGCGTGCAGACAGT	0.637		NA											False	0	False	3:13360637	0
CTD-2620I22.1	0	broad.mit.edu	37	19	53473141	53473141	+	RNA	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53473141A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA						NA											NA						GTGAATTACAATATGTTGTGC	0.393		NA											False	0	False	19:53473141	0
FSHR	0	broad.mit.edu	37	2	49190190	49190190	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:49190190G>T	ENST00000406846.2	-	10	1889	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	590					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.F590L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAATGGCAAAGAAAGAAATGG	0.532		NA							Gonadal Dysgenesis, 46 XX				False	0	True	2:49190190	0
NTNG2	84628	broad.mit.edu	37	9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:135114577C>T	ENST00000393229.3	+	6	1917	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	381	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACAACACGCGAGGTCAGCA	0.607		NA											False	0	False	9:135114577	0
KCNG3	170850	broad.mit.edu	37	2	42671164	42671164	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:42671164A>T	ENST00000306078.1	-	2	1816	c.1221T>A	c.(1219-1221)ttT>ttA	p.F407L	KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	407						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TATGGTAGATAAAAGTGATAG	0.398		NA											False	0	True	2:42671164	0
ZNF99	7652	broad.mit.edu	37	19	22940908	22940908	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:22940908A>G	ENST00000397104.3	-	5	1529	c.1530T>C	c.(1528-1530)gcT>gcC	p.A510A	ZNF99_ENST00000596209.1_Silent_p.A601A					zinc finger protein 99	NA										NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTGGTTAAAAGCTTTGCCAC	0.378		NA											False	0	True	19:22940908	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					nucleosome assembly	nucleosome|nucleus	DNA binding				NA						CCCGACACCGGCATCTCATCG	0.557		NA											False	0	False	6:27861401	0
PXK	54899	broad.mit.edu	37	3	58385103	58385103	+	Splice_Site	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:58385103C>G	ENST00000463280.1	+	10	1172	c.1081C>G	c.(1081-1083)Cca>Gca	p.P361A	PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000356151.2_Splice_Site_p.P394A|PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000383716.3_Splice_Site_p.P361A|PXK_ENST00000479241.1_Splice_Site_p.P377A			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	394	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTTACAGATGCCGTAAGTCAA	0.448		NA											False	0	False	3:58385103	0
ZNF554	115196	broad.mit.edu	37	19	2834140	2834140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:2834140C>T	ENST00000317243.5	+	5	1105	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAATGGGCAGTCATTGAA	0.478		NA											False	0	True	19:2834140	0
ZNF786	136051	broad.mit.edu	37	7	148767872	148767872	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:148767872G>A	ENST00000316286.9	-	3	2006	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	ZNF786_ENST00000451334.3_Silent_p.I627I|ZNF786_ENST00000491431.1_Silent_p.I664I			Q8N393	ZN786_HUMAN	zinc finger protein 786	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGATGTGCTCGATGAGCTTTG	0.582		NA											False	0	False	7:148767872	0
OR2T6	254879	broad.mit.edu	37	1	248551551	248551551	+	Silent	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248551551G>C	ENST00000355728.2	+	1	642	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			TCTCGGTGGTGACTGCATCCT	0.537		NA											False	0	False	1:248551551	0
PTPN21	11099	broad.mit.edu	37	14	88946299	88946299	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:88946299G>A	ENST00000556564.1	-	13	1760	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PTPN21_ENST00000328736.3_Silent_p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	492						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTCGGGCTGGCTGTAGACCA	0.677		NA											False	0	True	14:88946299	0
PCDH9	5101	broad.mit.edu	37	13	66878849	66878849	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:66878849T>A	ENST00000544246.1	-	5	4343	c.3652A>T	c.(3652-3654)Aat>Tat	p.N1218Y	PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.N1218Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1218					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACTTCAGATTTGCCAGAGGA	0.438		NA											False	0	True	13:66878849	0
ITGB2	3689	broad.mit.edu	37	21	46306690	46306690	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:46306690C>T	ENST00000397850.2	-	16	2660	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	736					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCTCAAAGCGCCTGTACTCCC	0.617		NA											False	0	False	21:46306690	0
HYDIN	54768	broad.mit.edu	37	16	70866926	70866926	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:70866926C>A	ENST00000393567.2	-	80	13874	c.13724G>T	c.(13723-13725)aGc>aTc	p.S4575I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4575										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTCTGGGCTAATGGAGAA	0.408		NA											False	0	True	16:70866926	0
ADAD2	161931	broad.mit.edu	37	16	84228145	84228145	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:84228145G>A	ENST00000268624.3	+	3	825	c.732G>A	c.(730-732)gcG>gcA	p.A244A	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000315906.5_Silent_p.A172A|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	172					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCAGGCAGCGCTCTCTGCCC	0.642		NA											False	0	True	16:84228145	0
STXBP4	252983	broad.mit.edu	37	17	53158469	53158469	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:53158469C>T	ENST00000376352.2	+	16	1621	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	472						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGGAATGGACGTAGCATCCC	0.398		NA											False	0	False	17:53158469	0
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587		NA									OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:44258532	0
ZSCAN21	7589	broad.mit.edu	37	7	99654807	99654807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:99654807C>T	ENST00000292450.4	+	2	342	c.178C>T	c.(178-180)Cga>Tga	p.R60*	ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	60	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTGGACCCCGAGAGGCCCT	0.577		NA											False	0	True	7:99654807	0
FGF7	2252	broad.mit.edu	37	15	49776634	49776634	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:49776634C>T	ENST00000267843.4	+	4	1129	c.518C>T	c.(517-519)cCt>cTt	p.P173L	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	173					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AAGGGGATTCCTGTAAGAGGA	0.363		NA											False	0	False	15:49776634	0
CKAP2	0	broad.mit.edu	37	13	53035900	53035900	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:53035900A>G	ENST00000378037.5	+	4	1032	c.942A>G	c.(940-942)ctA>ctG	p.L314L	CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000258607.5_Silent_p.L313L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	314					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATAAGACTCTATCAAGATCCA	0.388		NA											False	0	False	13:53035900	0
ASPM	259266	broad.mit.edu	37	1	197112823	197112823	+	Silent	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:197112823T>G	ENST00000367409.4	-	3	815	c.559A>C	c.(559-561)Aga>Cga	p.R187R	ASPM_ENST00000294732.7_Silent_p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	187					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTAACTCTGTCAACTTTT	0.343		NA											False	0	False	1:197112823	0
ZC3HAV1	56829	broad.mit.edu	37	7	138749667	138749667	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:138749667G>A	ENST00000242351.5	-	8	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	651	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCCTGAAATGGCACAACTCCC	0.453		NA											False	0	False	7:138749667	0
CROCCP2	0	broad.mit.edu	37	1	16945566	16945566	+	RNA	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:16945566C>T	ENST00000412962.1	-	0	1953										NA											NA						TCTCTGACAGCGCCATCTTCT	0.622		NA											False	0	False	1:16945566	0
TCERG1L	256536	broad.mit.edu	37	10	133058648	133058648	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:133058648C>T	ENST00000368642.4	-	4	815	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	244	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gcagcggcggcggcggtggcg	0.662		NA											False	0	True	10:133058648	0
KSR2	283455	broad.mit.edu	37	12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:117914339G>A	ENST00000425217.1	-	17	2479	c.2425C>T	c.(2425-2427)Cgc>Tgc	p.R809C	KSR2_ENST00000339824.5_Missense_Mutation_p.R838C|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582		NA											False	0	False	12:117914339	0
FRG1B	0	broad.mit.edu	37	20	29625908	29625908	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:29625908G>A	ENST00000278882.3	+	5	532	c.152G>A	c.(151-153)gGt>gAt	p.G51D	FRG1B_ENST00000439954.2_Missense_Mutation_p.G56D|FRG1B_ENST00000358464.4_Missense_Mutation_p.G51D						NA										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAATATCTTGGTATAAATTCA	0.323		NA											False	0	False	20:29625908	0
CCDC105	126402	broad.mit.edu	37	19	15131402	15131402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:15131402C>T	ENST00000292574.3	+	3	887	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	269					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAACCTCTCCCGAGCCCCCAC	0.597		NA											False	0	True	19:15131402	0
SEMA3A	10371	broad.mit.edu	37	7	83764207	83764207	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:83764207T>C	ENST00000265362.4	-	2	487	c.173A>G	c.(172-174)cAt>cGt	p.H58R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	NA	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAGGAAGGTATGATAACTGGA	0.388		NA											False	0	False	7:83764207	0
RSPH6A	81492	broad.mit.edu	37	19	46307741	46307741	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:46307741C>T	ENST00000221538.3	-	3	1564	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	474						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTCGTTGCCCGGGAAGGGTG	0.632		NA											False	0	True	19:46307741	0
MAP2	4133	broad.mit.edu	37	2	210574822	210574822	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:210574822G>A	ENST00000360351.4	+	12	5423	c.4917G>A	c.(4915-4917)ccG>ccA	p.P1639P	MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000392194.1_Silent_p.P283P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Silent_p.P283P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1639					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCTTGGTGCCGAGTGAGAAGA	0.542		NA											False	0	False	2:210574822	0
POTEE	445582	broad.mit.edu	37	2	132021474	132021474	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:132021474C>T	ENST00000356920.5	+	15	2540	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.						ATP binding	p.R816C(1)			NA						CAAGGCCAACCGCGAGAAGAT	0.612		NA											False	0	False	2:132021474	0
AQP4	361	broad.mit.edu	37	18	24436417	24436417	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:24436417C>T	ENST00000383168.4	-	5	858	c.730G>A	c.(730-732)Gct>Act	p.A244T	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	244					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGCCACCAGCGAGGACAGCT	0.433		NA											False	0	False	18:24436417	0
CENPJ	55835	broad.mit.edu	37	13	25466782	25466782	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:25466782G>A	ENST00000381884.4	-	10	3400	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	CENPJ_ENST00000545981.1_Splice_Site_p.A1072V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1072					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCTGCCTACCGCAAGCTTGTC	0.522		NA											False	0	False	13:25466782	0
STXBP5L	9515	broad.mit.edu	37	3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:120959317C>A	ENST00000273666.6	+	14	1634	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I	STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323		NA											False	0	False	3:120959317	0
OR4F6	390648	broad.mit.edu	37	15	102345944	102345944	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:102345944G>A	ENST00000328882.4	+	1	43	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAATCACTCTGTGGTCTCTGA	0.473		NA											False	0	False	15:102345944	0
LCE2C	353140	broad.mit.edu	37	1	152648628	152648628	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152648628C>A	ENST00000368783.1	+	2	192	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	46	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCTTGCTGTGGT	0.627		NA											False	0	False	1:152648628	0
OR2L8	391190	broad.mit.edu	37	1	248112943	248112943	+	Silent	SNP	A	A	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248112943A>C	ENST00000357191.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACGTCCAAGATCCCTGCG	0.483		NA											False	0	False	1:248112943	0
TRH	7200	broad.mit.edu	37	3	129696025	129696025	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:129696025G>A	ENST00000302649.3	+	3	1222	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGGTCGGCGGGCAGCCTGG	0.617		NA											False	0	True	3:129696025	0
DHRS2	10202	broad.mit.edu	37	14	24108419	24108419	+	Missense_Mutation	SNP	C	C	T	rs74036809		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:24108419C>T	ENST00000250383.6	+	3	648	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	36				L -> V (in Ref. 6; AA sequence).	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACGTCTGGCCCGGGACGGGGC	0.642		NA											False	0	True	14:24108419	0
SIGLEC6	946	broad.mit.edu	37	19	52023419	52023419	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52023419C>T	ENST00000346477.3	-	7	1299	c.1231G>A	c.(1231-1233)Gct>Act	p.A411T	SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000391797.3_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A427T|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	427					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTAGGACAGCGTAGTGGAGC	0.507		NA											False	0	False	19:52023419	0
NPHS2	7827	broad.mit.edu	37	1	179530445	179530445	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:179530445G>T	ENST00000367615.4	-	3	498	c.430C>A	c.(430-432)Cct>Act	p.P144T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	144					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTCTTCCAGGAAGCAGATGT	0.373		NA											False	0	False	1:179530445	0
OR2L2	26246	broad.mit.edu	37	1	248202362	248202362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248202362C>T	ENST00000366479.2	+	1	889	c.793C>T	c.(793-795)Cga>Tga	p.R265*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGATCCCTGCGATCTCCAAC	0.498		NA											False	0	False	1:248202362	0
SH3TC2	79628	broad.mit.edu	37	5	148424197	148424197	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:148424197A>T	ENST00000515425.1	-	4	385	c.284T>A	c.(283-285)cTc>cAc	p.L95H	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	95							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGCTGAGAGGTCCTACGT	0.438		NA											False	0	False	5:148424197	0
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622		NA											False	0	False	17:7917216	0
PTPN13	0	broad.mit.edu	37	4	87622708	87622708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:87622708G>A	ENST00000436978.1	+	7	1429	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E317K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	317						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTCTTCAGGAGAGACTGCCAC	0.458		NA											False	0	True	4:87622708	0
ZNF585A	199704	broad.mit.edu	37	19	37644404	37644404	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:37644404C>T	ENST00000356958.4	-	5	655	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAATTTGGCGCATTCATAA	0.383		NA											False	0	False	19:37644404	0
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520356.1_Silent_p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552		NA											False	0	False	8:135614834	0
PLEKHA5	54477	broad.mit.edu	37	12	19501393	19501393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:19501393G>T	ENST00000538714.1	+	21	2639	c.2635G>T	c.(2635-2637)Gaa>Taa	p.E879*	PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.E821*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	821							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGAAGTTGATGAATCTAATGG	0.348		NA											False	0	False	12:19501393	0
SCN5A	6331	broad.mit.edu	37	3	38662392	38662392	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:38662392C>T	ENST00000413689.1	-	5	746	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	185					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AAAGTGAACGCGTGCAGGCAG	0.527		NA											False	0	False	3:38662392	0
TTN	7273	broad.mit.edu	37	2	179455980	179455980	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:179455980C>T	ENST00000589042.1	-	304	60696	c.60472G>A	c.(60472-60474)Ggt>Agt	p.G20158S	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18517S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18517	Fibronectin type-III 46.						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)			GTTTTGCTACCGGCTGCATTG	0.418		NA											False	0	False	2:179455980	0
CAPRIN2	65981	broad.mit.edu	37	12	30873750	30873750	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:30873750G>C	ENST00000251071.5	-	12	2893	c.2143C>G	c.(2143-2145)Cct>Gct	p.P715A	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000395805.2_Intron	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	715					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTACCTCAGGAGTCTCTGAG	0.373		NA											False	0	False	12:30873750	0
ETS1	2113	broad.mit.edu	37	11	128391808	128391808	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:128391808C>T	ENST00000345075.4	-	1	397	c.82G>A	c.(82-84)Gat>Aat	p.D28N	ETS1_ENST00000531611.1_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000392668.4_Intron|ETS1_ENST00000319397.6_Splice_Site_p.D28N			P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	28					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CGCCACTCACCCGGGGAGGGG	0.652		NA											False	0	True	11:128391808	0
IGF2R	3482	broad.mit.edu	37	6	160501166	160501166	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:160501166G>A	ENST00000356956.1	+	39	5840	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1898	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCCAGAAACCGATGACGGCGT	0.532		NA											False	0	False	6:160501166	0
CACNA1F	778	broad.mit.edu	37	X	49063557	49063557	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:49063557G>C	ENST00000376265.2	-	44	5234	c.5173C>G	c.(5173-5175)Ctc>Gtc	p.L1725V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1725					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)	GTGAAAATGAGAGCCCCAGAG	0.547		NA											False	0	False	X:49063557	0
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488		NA											False	0	False	19:42132119	0
SP140	11262	broad.mit.edu	37	2	231120208	231120208	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:231120208C>T	ENST00000392045.3	+	12	1315	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	SP140_ENST00000350136.5_Missense_Mutation_p.R270C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000420434.3_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	401					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGAAGAGCGCCAGGAAGC	0.527		NA											False	0	False	2:231120208	0
CDC25A	993	broad.mit.edu	37	3	48219349	48219349	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:48219349G>T	ENST00000302506.3	-	7	1087	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	227					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGTACCTTCAGATTCTCTCCA	0.448		NA											False	0	False	3:48219349	0
TYROBP	7305	broad.mit.edu	37	19	36399086	36399086	+	Silent	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36399086G>T	ENST00000585901.2	-	1	63	c.45C>A	c.(43-45)ctC>ctA	p.L15L	TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000262629.4_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	15					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCAGCAGGAGAGGCAGGA	0.657		NA											False	0	False	19:36399086	0
MN1	4330	broad.mit.edu	37	22	28194939	28194939	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194939C>T	ENST00000302326.4	-	1	2547	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	531	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgctgctgctgctgct	0.652		NA	T	ETV6	"""AML, meningioma"""								False	0	True	22:28194939	0
YLPM1	56252	broad.mit.edu	37	14	75248343	75248343	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:75248343A>G	ENST00000325680.7	+	4	1721	c.1597A>G	c.(1597-1599)Atg>Gtg	p.M533V	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.M533V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTACCTACAATGCCCCCTCC	0.527		NA											False	0	False	14:75248343	0
TMEM198	130612	broad.mit.edu	37	2	220409474	220409474	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:220409474C>T	ENST00000344458.2	+	3	610	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W			Q66K66	TM198_HUMAN	transmembrane protein 198	9						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAACACTGCGGTTCCAGCT	0.617		NA											False	0	False	2:220409474	0
PLEKHA4	0	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637		NA											False	0	False	19:49362745	0
AJAP1	55966	broad.mit.edu	37	1	4772146	4772146	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	72					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.A72A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.771		NA											False	0	True	1:4772146	0
FGFR1	2260	broad.mit.edu	37	8	38275843	38275843	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:38275843G>A	ENST00000447712.2	-	10	2274	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	445					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.R445W(3)|p.R435W(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CGTGATGGCCGAACCAGAAGA	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						False	0	False	8:38275843	0
REG1P	0	broad.mit.edu	37	2	79365058	79365058	+	RNA	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:79365058G>T	ENST00000444841.1	-	0	166										NA											NA						CAGGGCTGGGGTTGTGGGAGG	0.483		NA											False	0	True	2:79365058	0
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20	NA								p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507		NA											False	0	False	1:148346684	0
ARHGEF4	50649	broad.mit.edu	37	2	131797606	131797606	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:131797606C>T	ENST00000392953.3	+	7	1284	c.765C>T	c.(763-765)gaC>gaT	p.D255D	ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000326016.5_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000525839.1_Silent_p.D255D	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	255					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGAATCAGGACGAGCCCGCGG	0.731		NA											False	0	False	2:131797606	0
PDZRN4	29951	broad.mit.edu	37	12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:41966931G>A	ENST00000298919.7	+	10	1958	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R	PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784							ubiquitin-protein ligase activity|zinc ion binding	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512		NA											False	0	False	12:41966931	0
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388		NA											False	0	True	19:53855452	0
SESTD1	91404	broad.mit.edu	37	2	180014068	180014068	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:180014068C>G	ENST00000428443.3	-	7	853	c.537G>C	c.(535-537)ttG>ttC	p.L179F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	179					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTGTTAATCAAAGCAAGTT	0.294		NA											False	0	True	2:180014068	0
TPTE	7179	broad.mit.edu	37	21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	rs113140892	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:10951332C>T	ENST00000298232.7	-	9	693	c.326G>A	c.(325-327)cGt>cAt	p.R109H	TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R127H	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R109H(1)		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)		AGAAATAGAACGATACTCCAA	0.338		NA											False	0	False	21:10951332	0
GPR26	2849	broad.mit.edu	37	10	125426411	125426411	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:125426411C>T	ENST00000284674.1	+	1	541	c.488C>T	c.(487-489)cCa>cTa	p.P163L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	163					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGCCGGCGGCCAGACGAGCGC	0.682		NA											False	0	False	10:125426411	0
MYT1L	23040	broad.mit.edu	37	2	1893097	1893097	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:1893097G>A	ENST00000399161.2	-	16	3183	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	MYT1L_ENST00000428368.2_Silent_p.G810G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	812					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGTCGCCCTCGCCCAGCTGGA	0.582		NA											False	0	True	2:1893097	0
SGSM1	129049	broad.mit.edu	37	22	25294015	25294015	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:25294015A>G	ENST00000400358.4	+	19	2156	c.2099A>G	c.(2098-2100)aAt>aGt	p.N700S	SGSM1_ENST00000400359.4_Missense_Mutation_p.N755S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	755	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGATCCCCAATGGGAACCTA	0.552		NA											False	0	False	22:25294015	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
SNX29P2	0	broad.mit.edu	37	16	29376089	29376089	+	RNA	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:29376089C>T	ENST00000398878.3	+	0	1517				SNX29P2_ENST00000507381.1_RNA						NA								p.S125F(1)			NA						GAGCAGAACTCTGGGGACATG	0.453		NA											False	0	False	16:29376089	0
CHDC2	286464	broad.mit.edu	37	X	36090000	36090000	+	Silent	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:36090000T>C	ENST00000313548.4	+	3	288	c.102T>C	c.(100-102)gcT>gcC	p.A34A		NM_173695.2	NP_775966.1			calponin homology domain containing 2	NA											NA						ACCAGGATGCTAAACCACCCT	0.378		NA											False	0	True	X:36090000	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	by1000genomes	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647		NA											False	0	False	19:52149092	0
GRIA4	0	broad.mit.edu	37	11	105836750	105836750	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:105836750G>A	ENST00000393127.2	+	15	2817	c.2371G>A	c.(2371-2373)Gac>Aac	p.D791N	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000282499.5_Intron	NM_001077243.2	NP_001070711	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	p.D791N(1)		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)	ATGGTGGTACGACAAAGGAGA	0.418		NA											False	0	False	11:105836750	0
PIF1	80119	broad.mit.edu	37	15	65116102	65116102	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:65116102G>A	ENST00000268043.4	-	2	527	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	145					negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						ACGAAGTCGCGGGGCCGCGGG	0.761		NA											False	0	True	15:65116102	0
PRMT8	56341	broad.mit.edu	37	12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	349					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.R349Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTCACTGTCCGGAGGGGGGAG	0.542		NA											False	0	False	12:3701463	0
GRIK4	2900	broad.mit.edu	37	11	120776148	120776148	+	Silent	SNP	C	C	T	rs144767530		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:120776148C>T	ENST00000527524.2	+	13	1709	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	GRIK4_ENST00000438375.2_Silent_p.G474G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	474					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G474G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCGTGTACGGCGTTCCCGAGG	0.612		NA											False	0	False	11:120776148	0
MS4A1	931	broad.mit.edu	37	11	60235849	60235849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:60235849C>T	ENST00000534668.1	+	7	1091	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	268					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTCCAATCCAAGAAGAGGA	0.373		NA											False	0	True	11:60235849	0
GPR153	387509	broad.mit.edu	37	1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677		NA											False	0	True	1:6313858	0
OR14A16	284532	broad.mit.edu	37	1	247978702	247978702	+	Silent	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:247978702C>A	ENST00000357627.1	-	1	329	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAGGAGGAGCAGCTCTGCAG	0.468		NA											False	0	True	1:247978702	0
SLC7A2	6542	broad.mit.edu	37	8	17409385	17409385	+	Silent	SNP	G	G	A	rs141741899	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:17409385G>A	ENST00000470360.1	+	8	1182	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000004531.10_Silent_p.P355P|SLC7A2_ENST00000494857.1_Silent_p.P315P|SLC7A2_ENST00000522656.1_Silent_p.P315P			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	315					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTATGATGCCGTACTACCTCC	0.483		NA											False	0	False	8:17409385	0
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627		NA											False	0	False	19:40395919	0
MRPL45	84311	broad.mit.edu	37	17	36478035	36478035	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:36478035C>T	ENST00000312513.5	+	7	848	c.687C>T	c.(685-687)ggC>ggT	p.G229G		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	229					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCGGTTTGGCCGGTTGATGT	0.438		NA											False	0	False	17:36478035	0
PCNX	22990	broad.mit.edu	37	14	71500186	71500186	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:71500186T>G	ENST00000304743.2	+	17	4045	c.3599T>G	c.(3598-3600)aTt>aGt	p.I1200S	PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1200						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTTCTCCATTTTTTGTGGT	0.338		NA											False	0	True	14:71500186	0
EFCAB6	64800	broad.mit.edu	37	22	43996133	43996133	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:43996133C>T	ENST00000262726.7	-	23	2945	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	898	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.E898K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCCCTCGGTGTCGTAT	0.428		NA											False	0	False	22:43996133	0
FPR1	2357	broad.mit.edu	37	19	52249584	52249584	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52249584C>T	ENST00000595042.1	-	3	805	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	222					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATAAGCCCATAACTGACA	0.517		NA											False	0	True	19:52249584	0
TNR	7143	broad.mit.edu	37	1	175365844	175365844	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:175365844T>A	ENST00000367674.2	-	5	1784	c.1076A>T	c.(1075-1077)tAc>tTc	p.Y359F	TNR_ENST00000263525.2_Missense_Mutation_p.Y359F			Q92752	TENR_HUMAN	tenascin R	NA	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTCGGCTGGTAAGAGATCAC	0.617		NA											False	0	False	1:175365844	0
DUOXA2	405753	broad.mit.edu	37	15	45410081	45410081	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:45410081T>G	ENST00000323030.5	+	6	1222	c.937T>G	c.(937-939)Tta>Gta	p.L313V	DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000558996.1_3'UTR	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	313					protein transport	endoplasmic reticulum membrane|integral to membrane					NA		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCTCCCAGACTTAAAATGTAT	0.627		NA									OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:45410081	0
FEM1B	10116	broad.mit.edu	37	15	68583276	68583276	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:68583276C>T	ENST00000306917.4	+	2	2195	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	527					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAGGTGAATGCCGTGGACAAT	0.463		NA											False	0	False	15:68583276	0
MYL9	10398	broad.mit.edu	37	20	35177521	35177521	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:35177521A>G	ENST00000279022.2	+	4	492	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	130	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTCACCACCATGGGTGACCG	0.577		NA											False	0	False	20:35177521	0
GGCX	2677	broad.mit.edu	37	2	85779621	85779621	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:85779621G>A	ENST00000233838.4	-	10	1437	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	NA					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GGAAGCAGGCGGCTCAGGCAA	0.522		NA									OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:85779621	0
