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
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596		NA											False	1	True	11:116729011	0
KMT2D	8085	broad.mit.edu	37	12	49427251	49427265	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-	-	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:49427251_49427265delTGCTGCTGCTGCTGT	ENST00000301067.7	-	39	11222_11236	c.11223_11237delACAGCAGCAGCAGCA	c.(11221-11238)caacagcagcagcagcac>cac	p.QQQQQ3741del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA								p.Q3475*(1)|p.Q3745*(1)			NA						TCCTAGAAGGtgctgctgctgctgttgctgctgct	0.591		NA											False	1	True	12:49427251	0
BIN2	51411	broad.mit.edu	37	12	51685485	51685486	+	In_Frame_Ins	INS	-	-	TTGGGTATTTAATTTAATTAATTT			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:51685485_51685486insTTGGGTATTTAATTTAATTAATTT	ENST00000267012.4	-	10	1465_1466	c.1404_1405insAAATTAATTAAATTAAATACCCAA	c.(1402-1407)aatcca>aatAAATTAATTAAATTAAATACCCAAcca	p.468_469NP>NKLIKLNTQP	BIN2_ENST00000452142.2_In_Frame_Ins_p.436_437NP>NKLIKLNTQP|BIN2_ENST00000604560.1_In_Frame_Ins_p.441_442NP>NKLIKLNTQP|BIN2_ENST00000544402.1_In_Frame_Ins_p.442_443NP>NKLIKLNTQP	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	468	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGTGGTTCTGGATTAGGAGAGA	0.535		NA											False	0	False	12:51685485	0
SMAD4	4089	broad.mit.edu	37	18	48604761	48604764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	ACTT	ACTT	-	-	ACTT	ACTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000588745.1	+	8	1295_1298	c.1295_1298delACTT	c.(1294-1299)cacttafs	p.HL432fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000586253.1_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	528	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.L529fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTGAAATTCACTTACACCGGGCC	0.495		NA											False	1	False	18:48604761	0
NSL1	25936	broad.mit.edu	37	1	212960972	212960973	+	In_Frame_Ins	INS	-	-	TTGTTTTGAATG			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:212960972_212960973insTTGTTTTGAATG	ENST00000366977.3	-	2	259_260	c.241_242insCATTCAAAACAA	c.(241-243)gaa>gCATTCAAAACAAaa	p.81_81E>AFKTK	NSL1_ENST00000422588.2_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000366975.6_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_In_Frame_Ins_p.81_81E>AFKTK	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	81					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CACAGCTGATTCAAAAGTCTGC	0.317		NA											False	0	True	1:212960972	0
NSL1	25936	broad.mit.edu	37	1	212960973	212960974	+	Frame_Shift_Ins	INS	-	-	TGTTTTTT			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:212960973_212960974insTGTTTTTT	ENST00000366977.3	-	2	258_259	c.240_241insAAAAAACA	c.(238-243)tttgaafs	p.E81fs	NSL1_ENST00000422588.2_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.E81fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	81					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		ACAGCTGATTCAAAAGTCTGCA	0.317		NA											False	0	True	1:212960973	0
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs112129664	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:46279864_46279866delCAA	ENST00000372004.3	+	20	3994_3996	c.3778_3780delCAA	c.(3778-3780)caadel	p.Q1272del	NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del	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	1276	Acetyltransferase.|Poly-Gln.				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						gcagcagcagcaacagcaacagc	0.567		NA											False	1	True	20:46279864	0
SCN7A	6332	broad.mit.edu	37	2	167313539	167313540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:167313539_167313540insA	ENST00000409855.1	-	10	1256_1257	c.1130_1131insT	c.(1129-1131)gtafs	p.V377fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	377					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAAAAAACTTACCACCACAAA	0.347		NA											False	1	False	2:167313539	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
BCHE	590	broad.mit.edu	37	3	165547968	165547968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:165547968delT	ENST00000264381.3	-	2	1020	c.854delA	c.(853-855)gagfs	p.E285fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	285					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TATTTCAGTCTCATTCTCTCT	0.388		NA											False	1	False	3:165547968	0
MECOM	2122	broad.mit.edu	37	3	168833756	168833762	+	Frame_Shift_Del	DEL	TTATTAT	TTATTAT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TTATTAT	TTATTAT	-	-	TTATTAT	TTATTAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:168833756_168833762delTTATTAT	ENST00000464456.1	-	7	2534_2540	c.1334_1340delATAATAA	c.(1333-1341)aataataagfs	p.NNK445fs	MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTCTTTCTTATTATTTATTGAAGC	0.348		NA											False	1	True	3:168833756	0
CWC27	10283	broad.mit.edu	37	5	64081398	64081399	+	In_Frame_Ins	INS	-	-	TATAAT			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:64081398_64081399insTATAAT	ENST00000508024.1	+	5	688_689	c.487_488insTATAAT	c.(487-489)agc>aTATAATgc	p.163_163S>I*C	CWC27_ENST00000381070.3_In_Frame_Ins_p.163_163S>I*C			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CAAAATAAAAAGCTGTGAGGTA	0.342		NA											False	0	True	5:64081398	0
CWC27	10283	broad.mit.edu	37	5	64081399	64081400	+	In_Frame_Ins	INS	-	-	TAATTGAAAATTATTGCACTCATC			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:64081399_64081400insTAATTGAAAATTATTGCACTCATC	ENST00000508024.1	+	5	689_690	c.488_489insTAATTGAAAATTATTGCACTCATC	c.(487-492)agctgt>agTAATTGAAAATTATTGCACTCATCctgt	p.162_163insSN*KLLHS	CWC27_ENST00000381070.3_In_Frame_Ins_p.162_163insSN*KLLHS			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	162	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAATAAAAAGCTGTGAGGTAG	0.342		NA											False	0	False	5:64081399	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
RREB1	6239	broad.mit.edu	37	6	7230570	7230570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000379938.2	+	10	2775	c.2238delC	c.(2236-2238)gacfs	p.D746fs	RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000349384.6_Frame_Shift_Del_p.D746fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	746					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCTGGTGGACGCCTTCTGCG	0.662		NA											False	1	False	6:7230570	0
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552		NA											False	1	True	7:44153778	0
ELN	2006	broad.mit.edu	37	7	73474273	73474290	+	In_Frame_Del	DEL	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	-	rs56307747		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	-	-	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474273_73474290delTGGCTCCTGGAGTTGGCT	ENST00000252034.7	+	23	1871_1888	c.1472_1489delTGGCTCCTGGAGTTGGCT	c.(1471-1491)gtggctcctggagttggcttg>gtg	p.APGVGL492del	ELN_ENST00000458204.1_In_Frame_Del_p.APGVGL482del|ELN_ENST00000445912.1_In_Frame_Del_p.APGVGL492del|ELN_ENST00000320492.7_In_Frame_Del_p.APGVGL411del|ELN_ENST00000429192.1_In_Frame_Del_p.APGVGL478del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_In_Frame_Del_p.APGVGL468del|ELN_ENST00000380553.4_In_Frame_Del_p.APGVGL356del|ELN_ENST00000380562.4_In_Frame_Del_p.APGVGL498del|ELN_ENST00000380575.4_In_Frame_Del_p.APGVGL463del|ELN_ENST00000380576.5_In_Frame_Del_p.APGVGL473del|ELN_ENST00000380584.4_In_Frame_Del_p.APGVGL459del|ELN_ENST00000358929.4_In_Frame_Del_p.APGVGL527del|ELN_ENST00000357036.5_In_Frame_Del_p.APGVGL497del|ELN_ENST00000320399.6_In_Frame_Del_p.APGVGL492del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	521	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGTGTCGGTGTGGCTCCTGGAGTTGGCTTGGCTCCTGG	0.592		NA	T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						False	1	False	7:73474273	0
VLDLR	7436	broad.mit.edu	37	9	2648807	2648817	+	Splice_Site	DEL	TCAGGTACCGT	TCAGGTACCGT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TCAGGTACCGT	TCAGGTACCGT	-	-	TCAGGTACCGT	TCAGGTACCGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:2648807_2648817delTCAGGTACCGT	ENST00000382100.2	+	14	2457_2460	c.2101_2104delTCAGGTACCGT	c.(2101-2106)tcaggt>gt	p.SG701fs	VLDLR_ENST00000382099.2_Splice_Site_p.SG701fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	701					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGTACAGCCATCAGGTACCGTGGAGAAGCAC	0.441		NA											False	1	False	9:2648807	0
KIAA1432	57589	broad.mit.edu	37	9	5762622	5762623	+	Frame_Shift_Ins	INS	-	-	ATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	rs145869379		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:5762622_5762623insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	ENST00000414202.2	+	18	2265_2266	c.2074_2075insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	c.(2074-2076)cggfs	p.R692fs	KIAA1432_ENST00000381532.2_Frame_Shift_Ins_p.R613fs|KIAA1432_ENST00000251879.6_Frame_Shift_Ins_p.R692fs|KIAA1432_ENST00000449720.2_Frame_Shift_Ins_p.R576fs|KIAA1432_ENST00000418622.3_Frame_Shift_Ins_p.R613fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	692						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCACAGATCCGGGAGAAGGAC	0.436		NA											False	0	True	9:5762622	0
STK10	6793	broad.mit.edu	37	5	171583761	171583761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:171583761G>A	ENST00000176763.5	-	2	531	c.188C>T	c.(187-189)gCg>gTg	p.A63V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	63	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACTTTGGCCGCAGCCAAAGC	0.547		NA											False	0	False	5:171583761	0
PCDH15	65217	broad.mit.edu	37	10	55912915	55912915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:55912915G>A	ENST00000373965.2	-	15	2144	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	577	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGTAAGTCCGCCCGACTATC	0.483		NA								HNSCC(58;0.16)			False	0	True	10:55912915	0
RASA3	22821	broad.mit.edu	37	13	114773065	114773065	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552		NA											False	0	False	13:114773065	0
NCAPD3	23310	broad.mit.edu	37	11	134054844	134054844	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:134054844C>T	ENST00000534548.2	-	18	2353	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	763					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGCAATATGCCCAATCACAC	0.438		NA											False	0	True	11:134054844	0
MYO15A	51168	broad.mit.edu	37	17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCTTCCCGCGACCCCAGGTG	0.632		NA											False	0	False	17:18023559	0
TIAM2	26230	broad.mit.edu	37	6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGTGGTCCGGAAGGCCGGG	0.542		NA											False	0	False	6:155458639	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517		NA											False	0	False	1:152327955	0
SHANK2	22941	broad.mit.edu	37	11	70332638	70332638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:70332638G>A	ENST00000338508.4	-	32	3762	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	SHANK2_ENST00000409161.1_Missense_Mutation_p.R658W|SHANK2_ENST00000423696.2_Missense_Mutation_p.R875W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	875					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGCTGGGCCGCATTTTGGTA	0.617		NA											False	0	False	11:70332638	0
NOTCH1	4851	broad.mit.edu	37	9	139404265	139404265	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:139404265G>A	ENST00000277541.6	-	18	2964	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	963	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCTGTCCACGCAGTCCGTGC	0.642		NA	"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139404265	0
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:32147865C>T	ENST00000427134.2	+	5	422	c.407C>T	c.(406-408)aCc>aTc	p.T136I	RNF5_ENST00000375094.3_Missense_Mutation_p.T136I			Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557		NA											False	0	False	6:32147865	0
AFF2	2334	broad.mit.edu	37	X	147744171	147744171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:147744171C>A	ENST00000370460.2	+	3	1402	c.923C>A	c.(922-924)tCa>tAa	p.S308*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	308					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAACCTTCAATTGAATTT	0.478		NA											False	0	False	X:147744171	0
PLD5	200150	broad.mit.edu	37	1	242253380	242253380	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000536534.2	-	10	1628	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	PLD5_ENST00000442594.2_Missense_Mutation_p.Q371E|PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	NA						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCAGCATTCTGAGTGAAATCA	0.398		NA											False	0	False	1:242253380	0
SCN4A	6329	broad.mit.edu	37	17	62018160	62018160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:62018160G>A	ENST00000578147.1	-	24	5558	c.5482C>T	c.(5482-5484)Cgc>Tgc	p.R1828C	SCN4A_ENST00000435607.1_Missense_Mutation_p.R1828C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1828					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACACCTGGGCGCACAGTCTGC	0.677		NA											False	0	False	17:62018160	0
COL23A1	91522	broad.mit.edu	37	5	177688748	177688748	+	Splice_Site	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.677G>T	c.(676-678)gGc>gTc	p.G226V	COL23A1_ENST00000407622.1_Splice_Site_p.G190V	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	226	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCCCTTTGGGCCCTGGAACAA	0.562		NA											False	0	True	5:177688748	0
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		AGGTGACACCCGGGCTGCTCC	0.453		NA											False	0	True	21:10969096	0
PSG5	5673	broad.mit.edu	37	19	43679528	43679528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:43679528G>A	ENST00000404580.1	-	4	891	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PSG5_ENST00000366175.3_Missense_Mutation_p.P268L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	268	Ig-like C2-type 2.				female pregnancy	extracellular region		p.P268L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATACTCTGCCGGTGGGTTAGA	0.463		NA											False	0	False	19:43679528	0
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:650531G>A	ENST00000576778.1	-	1	2060	c.719C>T	c.(718-720)gCg>gTg	p.A240V	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607		NA											False	0	False	17:650531	0
MAP3K9	4293	broad.mit.edu	37	14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCTGATGCGGTTGCCATC	0.602		NA											False	0	False	14:71209085	0
TTN	7273	broad.mit.edu	37	2	179436286	179436286	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179436286A>T	ENST00000589042.1	-	326	74797	c.74573T>A	c.(74572-74574)aTt>aAt	p.I24858N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN_ENST00000591111.1_Missense_Mutation_p.I23217N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23217	Fibronectin type-III 81.						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)			AGCTGATACAATTTGCCAGGT	0.418		NA											False	0	True	2:179436286	0
WHAMMP3	0	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1					NA											NA						TGATTTTCTTCGCACTGATCC	0.408		NA											False	0	False	15:23191911	0
TOX2	84969	broad.mit.edu	37	20	42694515	42694515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:42694515G>A	ENST00000358131.5	+	6	1278	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	TOX2_ENST00000341197.4_Missense_Mutation_p.R375Q|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Missense_Mutation_p.R333Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCTCGCCCGGACGCTGGGC	0.706		NA											False	0	True	20:42694515	0
MRGPRX2	117194	broad.mit.edu	37	11	19077764	19077764	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:19077764G>A	ENST00000329773.2	-	2	273	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049).		sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CAGAGAAGGCGTTCCTGCGCA	0.557		NA											False	0	False	11:19077764	0
CELSR2	1952	broad.mit.edu	37	1	109795748	109795748	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109795748G>A	ENST00000271332.3	+	1	3108	c.3047G>A	c.(3046-3048)cGc>cAc	p.R1016H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1016	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCTTGACCGCAATGACAAC	0.577		NA											False	0	False	1:109795748	0
SDSL	113675	broad.mit.edu	37	12	113873183	113873183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:113873183C>T	ENST00000403593.4	+	6	755	c.493C>T	c.(493-495)Cca>Tca	p.P165S	SDSL_ENST00000345635.4_Missense_Mutation_p.P165S			Q96GA7	SDSL_HUMAN	serine dehydratase-like	165					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCTGAGGACCCCACCAGGTGC	0.682		NA											False	0	True	12:113873183	0
ABCA1	19	broad.mit.edu	37	9	107556682	107556682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:107556682G>A	ENST00000374736.3	-	40	5886	c.5492C>T	c.(5491-5493)gCc>gTc	p.A1831V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1831					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTTTCCAGGGCATCAGCCAT	0.468		NA											False	0	True	9:107556682	0
RCAN2	10231	broad.mit.edu	37	6	46214487	46214487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:46214487G>A	ENST00000371374.1	-	4	760	c.569C>T	c.(568-570)cCa>cTa	p.P190L	RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P144L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	144					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAGCTTACCTGGTCCTAGTTT	0.488		NA											False	0	False	6:46214487	0
ERCC4	2072	broad.mit.edu	37	16	14014215	14014215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:14014215C>T	ENST00000311895.7	+	1	202	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	65					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCTCAACACGCAGCCGGCCGA	0.697		NA	"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	16:14014215	0
ATP6V0A1	535	broad.mit.edu	37	17	40666417	40666417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:40666417G>A	ENST00000343619.4	+	21	2482	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	787					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CACCCTGACCGTGGCCATCCT	0.617		NA											False	0	False	17:40666417	0
TRPV4	59341	broad.mit.edu	37	12	110236628	110236628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:110236628G>A	ENST00000418703.2	-	5	1037	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W|TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	315			R -> W (in CMT2C).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCTGGCGCCGCATGTCCGCC	0.612		NA											False	0	False	12:110236628	0
TMEM140	55281	broad.mit.edu	37	7	134849251	134849251	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:134849251C>A	ENST00000275767.3	+	2	281	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	NA						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CATCATAGTCCTCGTGATTGT	0.582		NA											False	0	False	7:134849251	0
CEP89	84902	broad.mit.edu	37	19	33392297	33392297	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:33392297C>G	ENST00000305768.5	-	15	1675	c.1587G>C	c.(1585-1587)gaG>gaC	p.E529D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	NA						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCCTTTCTTTCTCTTCTTCCT	0.453		NA											False	0	True	19:33392297	0
CYP11B1	0	broad.mit.edu	37	8	143958154	143958154	+	Missense_Mutation	SNP	G	G	A	rs34620645	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:143958154G>A	ENST00000292427.4	-	4	775	c.743C>T	c.(742-744)aCc>aTc	p.T248I	CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	248			T -> I (in dbSNP:rs34620645).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGGCTGGTCCAGCGAGA	0.602		NA							Familial Hyperaldosteronism type I				False	0	False	8:143958154	0
RNF123	63891	broad.mit.edu	37	3	49738081	49738081	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:49738081C>T	ENST00000327697.6	+	15	1360	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	406						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCATTACCTGCGGCTCACTAT	0.607		NA											False	0	False	3:49738081	0
DPYSL5	56896	broad.mit.edu	37	2	27121503	27121503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27121503G>A	ENST00000288699.6	+	2	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	46					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGATCCCTGGCGGGGCCAA	0.587		NA											False	0	False	2:27121503	0
ERCC6L2	375748	broad.mit.edu	37	9	98678110	98678110	+	Splice_Site	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:98678110T>A	ENST00000288985.7	+	5	1287	c.982T>A	c.(982-984)Tgg>Agg	p.W328R	ERCC6L2_ENST00000437817.1_Splice_Site_p.W139R|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	328	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				NA						TGTTATGGACTGGTGAGAGAA	0.363		NA											False	0	False	9:98678110	0
CLDN9	9080	broad.mit.edu	37	16	3063749	3063749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:3063749G>A	ENST00000445369.2	+	1	1293	c.386G>A	c.(385-387)gGc>gAc	p.G129D		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	129					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTCCTCGCCGGCATCCTGGTG	0.662		NA											False	0	False	16:3063749	0
ZMAT1	84460	broad.mit.edu	37	X	101138639	101138639	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:101138639T>C	ENST00000372782.3	-	7	1807	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R	ZMAT1_ENST00000458570.1_Missense_Mutation_p.K416R|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	416						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAACTGACCTTGACTCTATC	0.378		NA											False	0	False	X:101138639	0
MUC16	94025	broad.mit.edu	37	19	9057140	9057140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9057140C>A	ENST00000397910.4	-	3	30509	c.30306G>T	c.(30304-30306)atG>atT	p.M10102I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10104	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCACTGCCATGCTTGAAG	0.468		NA											False	0	False	19:9057140	0
P4HA1	5033	broad.mit.edu	37	10	74828652	74828652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:74828652C>A	ENST00000412021.2	-	6	748	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000307116.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	139						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAGGTATCCTGGAGACGT	0.398		NA											False	0	False	10:74828652	0
TMEM117	84216	broad.mit.edu	37	12	44782362	44782362	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:44782362C>T	ENST00000266534.3	+	8	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T380T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	484						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CCCACCTAACCTCGGAAAACT	0.453		NA											False	0	False	12:44782362	0
MGAT5	4249	broad.mit.edu	37	2	135012053	135012053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:135012053A>G	ENST00000409645.1	+	2	331	c.79A>G	c.(79-81)Atg>Gtg	p.M27V	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	27					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CATTTGGGGTATGATGCTTCT	0.522		NA											False	0	False	2:135012053	0
STAU1	6780	broad.mit.edu	37	20	47741012	47741012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:47741012G>A	ENST00000371828.3	-	7	984	c.497C>T	c.(496-498)gCc>gTc	p.A166V	STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	241						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGCTATGGCGGCATTTTTCTT	0.468		NA											False	0	False	20:47741012	0
TRIO	7204	broad.mit.edu	37	5	14291189	14291189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:14291189C>T	ENST00000344204.4	+	5	929	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TRIO_ENST00000509967.2_Missense_Mutation_p.A253V|TRIO_ENST00000537187.1_Missense_Mutation_p.A302V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	302					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGCAATGCGGACCTGCAG	0.562		NA											False	0	False	5:14291189	0
MICU3	286097	broad.mit.edu	37	8	16963051	16963051	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:16963051A>C	ENST00000318063.5	+	11	1257	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3	NA											NA						AAAATACATCAGTATTTTTAG	0.308		NA											False	0	False	8:16963051	0
RGL1	23179	broad.mit.edu	37	1	183885789	183885789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:183885789G>A	ENST00000304685.4	+	17	2512	c.2063G>A	c.(2062-2064)cGc>cAc	p.R688H	RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000360851.3_Missense_Mutation_p.R653H|RGL1_ENST00000536277.1_Missense_Mutation_p.R651H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	NA	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCATAATCCGCATCAGTGTG	0.498		NA											False	0	False	1:183885789	0
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607		NA											False	0	False	3:195965646	0
ZNF441	126068	broad.mit.edu	37	19	11891903	11891903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:11891903A>G	ENST00000357901.4	+	4	1366	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATAAATGTAAACAATGTGG	0.368		NA											False	0	True	19:11891903	0
ABCA10	10349	broad.mit.edu	37	17	67211983	67211983	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:67211983A>G	ENST00000269081.4	-	9	1740	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_ENST00000416101.2_Silent_p.P277P|ABCA10_ENST00000432313.2_Silent_p.P277P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	277					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAAGGCAAAAGGGCTAAGAA	0.353		NA											False	0	True	17:67211983	0
C4orf17	84103	broad.mit.edu	37	4	100460491	100460491	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:100460491T>C	ENST00000514652.1	+	7	1154	c.800T>C	c.(799-801)gTg>gCg	p.V267A	C4orf17_ENST00000326581.4_Missense_Mutation_p.V267A			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	267										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAATCAAAAGTGCTGACCAGA	0.458		NA											False	0	False	4:100460491	0
ADAM19	8728	broad.mit.edu	37	5	156915309	156915309	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:156915309C>T	ENST00000257527.4	-	21	2592	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	ADAM19_ENST00000394020.1_Silent_p.R840R|ADAM19_ENST00000517905.1_Silent_p.R838R|ADAM19_ENST00000430702.2_Silent_p.R571R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	838					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAATTGGCCGGCTTGGAG	0.567		NA											False	0	False	5:156915309	0
RRAD	6236	broad.mit.edu	37	16	66956197	66956197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:66956197G>A	ENST00000299759.6	-	5	959	c.709C>T	c.(709-711)Cac>Tac	p.H237Y	RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y			P55042	RAD_HUMAN	Ras-related associated with diabetes	237					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACATTGTGGTGCAATGCCGCT	0.602		NA											False	0	False	16:66956197	0
KCNA3	3738	broad.mit.edu	37	1	111216789	111216789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:111216789C>T	ENST00000369769.2	-	1	866	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	215						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTGGAAGTCGCGGCGGGGC	0.682		NA											False	0	False	1:111216789	0
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:237103689C>T	ENST00000330842.6	-	5	1234	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Silent_p.P409P			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	409					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542		NA											False	0	False	2:237103689	0
CCDC92	80212	broad.mit.edu	37	12	124428832	124428832	+	Silent	SNP	C	C	T	rs148809811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:124428832C>T	ENST00000238156.3	-	2	375	c.21G>A	c.(19-21)tcG>tcA	p.S7S	CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000545135.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	7										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498		NA											False	0	False	12:124428832	0
SDCCAG8	10806	broad.mit.edu	37	1	243456473	243456473	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:243456473C>T	ENST00000366541.3	+	6	745	c.627C>T	c.(625-627)gaC>gaT	p.D209D	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Silent_p.D209D|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Silent_p.D64D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	209					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTCCCATGACAATGCAGATT	0.403		NA											False	0	False	1:243456473	0
PITPNM2	57605	broad.mit.edu	37	12	123472784	123472784	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123472784C>A	ENST00000280562.5	-	19	3181	c.2976G>T	c.(2974-2976)ctG>ctT	p.L992L	PITPNM2_ENST00000542749.1_Silent_p.L998L|PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000320201.4_Silent_p.L998L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCCTCACCCGCAGCTTCACGT	0.627		NA											False	0	False	12:123472784	0
HMCN1	83872	broad.mit.edu	37	1	185892601	185892601	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:185892601C>G	ENST00000271588.4	+	8	1330	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	367					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTGAGTATCTCAGGAAGTT	0.353		NA											False	0	False	1:185892601	0
COL20A1	57642	broad.mit.edu	37	20	61929336	61929336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:61929336G>A	ENST00000422202.1	+	2	225	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000358894.6_Missense_Mutation_p.G53S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	53	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGGGGAGCGGCCTCGGCTA	0.632		NA											False	0	False	20:61929336	0
AAMDC	28971	broad.mit.edu	37	11	77580841	77580841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:77580841G>A	ENST00000527134.1	+	4	354	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	AAMDC_ENST00000393427.2_Missense_Mutation_p.R69Q|AAMDC_ENST00000525034.1_Missense_Mutation_p.R88Q|AAMDC_ENST00000532481.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000533193.1_Missense_Mutation_p.R115Q|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000304716.8_Missense_Mutation_p.R69Q|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000526415.1_Missense_Mutation_p.R69Q|RP11-91P24.6_ENST00000530972.1_RNA					adipogenesis associated, Mth938 domain containing	NA											NA						GTGATTGGCCGAGGGATGAGT	0.502		NA											False	0	False	11:77580841	0
SCN2A	6326	broad.mit.edu	37	2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000375437.2	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T|SCN2A_ENST00000357398.3_Missense_Mutation_p.A467T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	467					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCTGCAGCCGCATCTGCTGA	0.408		NA											False	0	False	2:166171996	0
KDM5B	10765	broad.mit.edu	37	1	202702804	202702804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:202702804C>A	ENST00000367265.3	-	23	4798	c.3634G>T	c.(3634-3636)Ggc>Tgc	p.G1212C	KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1212					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTCGCAGGCCCTGTGAAATA	0.542		NA											False	0	True	1:202702804	0
DYRK1A	1859	broad.mit.edu	37	21	38877757	38877757	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:38877757T>A	ENST00000339659.4	+	9	2854	c.1384T>A	c.(1384-1386)Tat>Aat	p.Y462N	DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	NA	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AATTCAACCTTATTATGCTCT	0.438		NA											False	0	False	21:38877757	0
WWC3	55841	broad.mit.edu	37	X	10090747	10090747	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:10090747C>T	ENST00000380861.4	+	12	2110	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	WWC3_ENST00000454666.1_Silent_p.S573S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	573										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGCTAGCCAGCGACAGTGGGG	0.498		NA											False	0	False	X:10090747	0
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79323756G>A	ENST00000428286.1	-	8	3557	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522		NA											False	0	False	9:79323756	0
MKNK2	2872	broad.mit.edu	37	19	2041073	2041073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:2041073G>A	ENST00000250896.3	-	12	1320	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591601.1_Missense_Mutation_p.A359V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	359	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	p.A359V(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GACTTGGGCGGCACTCAGCCT	0.662		NA											False	0	False	19:2041073	0
SCAF11	9169	broad.mit.edu	37	12	46326986	46326986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:46326986C>T	ENST00000369367.3	-	9	895	c.662G>A	c.(661-663)aGt>aAt	p.S221N	SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N|SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	221					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AATCAATGCACTGATTTCACT	0.313		NA											False	0	False	12:46326986	0
C5orf38	153571	broad.mit.edu	37	5	2752818	2752818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:2752818G>A	ENST00000515640.1	+	2	302	c.283G>A	c.(283-285)Gag>Aag	p.E95K	C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	95						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CAGTCACGTCGAGAACGGGCA	0.602		NA											False	0	False	5:2752818	0
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612		NA											False	0	False	5:633946	0
USH2A	7399	broad.mit.edu	37	1	215933091	215933091	+	Silent	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:215933091T>C	ENST00000366943.2	-	57	11528	c.11142A>G	c.(11140-11142)caA>caG	p.Q3714Q	USH2A_ENST00000307340.3_Silent_p.Q3714Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3714	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAATTGATATTGAGAAACGA	0.428		NA								HNSCC(13;0.011)			False	0	False	1:215933091	0
KIF26A	26153	broad.mit.edu	37	14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:104642766C>T	ENST00000315264.7	+	11	3602	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721		NA											False	0	False	14:104642766	0
SPATA31D1	389763	broad.mit.edu	37	9	84608089	84608089	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:84608089A>T	ENST00000344803.2	+	4	2751	c.2704A>T	c.(2704-2706)Atg>Ttg	p.M902L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA								p.M902V(2)			NA						CAAACAAAAGATGTTGGAAGC	0.433		NA											False	0	False	9:84608089	0
OSBPL10	114884	broad.mit.edu	37	3	31789494	31789494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:31789494G>A	ENST00000396556.2	-	5	970	c.848C>T	c.(847-849)gCt>gTt	p.A283V	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	283					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGGTGGCAGCAGAGGTAGC	0.637		NA											False	0	False	3:31789494	0
ONECUT2	9480	broad.mit.edu	37	18	55103544	55103544	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:55103544G>C	ENST00000491143.2	+	1	628	c.596G>C	c.(595-597)cGc>cCc	p.R199P		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	199					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACCCTCATGCGCGACGAGCGC	0.677		NA											False	0	False	18:55103544	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572		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	17:7577559	0
ADAMTS19	171019	broad.mit.edu	37	5	128983486	128983486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:128983486G>A	ENST00000274487.4	+	12	2028	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	628	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTACCAGCAGGACCTCAGCA	0.507		NA											False	0	False	5:128983486	0
CUL9	23113	broad.mit.edu	37	6	43155033	43155033	+	Silent	SNP	G	G	A	rs148427416		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	479					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCCTTTGCCGTACCTCCAGC	0.532		NA											False	0	False	6:43155033	0
SHANK1	50944	broad.mit.edu	37	19	51219616	51219616	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:51219616G>A	ENST00000293441.1	-	2	393	c.375C>T	c.(373-375)tcC>tcT	p.S125S	SHANK1_ENST00000359082.3_Silent_p.S125S|SHANK1_ENST00000391814.1_Silent_p.S125S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	125					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CATCGCGGCCGGAGGTGGCCG	0.637		NA											False	0	False	19:51219616	0
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:804908C>T	ENST00000356948.6	+	7	1109	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCAGTATGCGGACCCCGTG	0.662		NA											False	0	False	19:804908	0
SMG8	55181	broad.mit.edu	37	17	57288528	57288528	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:57288528C>A	ENST00000543872.2	+	2	1380	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.P372P|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.P372P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	372					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGCCTGCACCCCTTTCTGGGC	0.542		NA											False	0	True	17:57288528	0
MUC16	94025	broad.mit.edu	37	19	9089947	9089947	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9089947G>T	ENST00000397910.4	-	1	2071	c.1868C>A	c.(1867-1869)aCa>aAa	p.T623K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	623	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGTGGGTTGTGCCCTGGCT	0.577		NA											False	0	False	19:9089947	0
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498		NA											False	0	False	10:111630550	0
TLN2	83660	broad.mit.edu	37	15	63032911	63032911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:63032911C>T	ENST00000561311.1	+	31	4198	c.3968C>T	c.(3967-3969)tCt>tTt	p.S1323F	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F			Q9Y4G6	TLN2_HUMAN	talin 2	1323					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.S1323Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGCCAAGTCTCTCTCTGTA	0.493		NA											False	0	True	15:63032911	0
MED15	51586	broad.mit.edu	37	22	20929453	20929453	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:20929453G>A	ENST00000263205.7	+	9	1275	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	MED15_ENST00000406969.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	402	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCCGGTTCCCGCCTACCACCG	0.597		NA											False	0	True	22:20929453	0
PTCHD1	139411	broad.mit.edu	37	X	23410819	23410819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:23410819A>G	ENST00000379361.4	+	3	2044	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	395	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTTTCACGAACATTGAGGCA	0.483		NA											False	0	False	X:23410819	0
RNF216	54476	broad.mit.edu	37	7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000389902.3_Missense_Mutation_p.R895W|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642		NA											False	0	True	7:5662580	0
TNC	3371	broad.mit.edu	37	9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2029	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCGTTTTTGCGTCTCAGGAA	0.488		NA											False	0	False	9:117791722	0
OR2T3	343173	broad.mit.edu	37	1	248637216	248637216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:248637216C>A	ENST00000359594.2	+	1	590	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GACTCCTGCCCTGCTGAAGCT	0.512		NA											False	0	True	1:248637216	0
POMC	5443	broad.mit.edu	37	2	25387630	25387630	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000264708.3_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000395826.2_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGCTGCAGCACGATCTCGGCA	0.607		NA											False	0	False	2:25387630	0
GOLGA3	2802	broad.mit.edu	37	12	133365860	133365860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:133365860T>G	ENST00000204726.3	-	13	3122	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	855					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCGCCGGTAGGCCTCCAC	0.637		NA											False	0	False	12:133365860	0
SLC19A1	6573	broad.mit.edu	37	21	46951654	46951654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:46951654C>T	ENST00000311124.4	-	3	750	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	200					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGGAAGAGGGCGAGGACCACG	0.647		NA											False	0	True	21:46951654	0
FAM47A	158724	broad.mit.edu	37	X	34150174	34150174	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAAAAACTCGTCACGGCGAC	0.532		NA											False	0	False	X:34150174	0
C11orf82	220042	broad.mit.edu	37	11	82645017	82645017	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:82645017A>C	ENST00000533655.1	+	6	2849	c.2637A>C	c.(2635-2637)ggA>ggC	p.G879G	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000430323.2_Silent_p.G879G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	879					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATATGCTTGGATTCCAAGGCA	0.408		NA											False	0	False	11:82645017	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124800	26124800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26124800G>T	ENST00000602637.1	+	1	370	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	114					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TAACATCCAGGCCGTGCTTCT	0.582		NA											False	0	False	6:26124800	0
MCF2L2	23101	broad.mit.edu	37	3	183027561	183027561	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:183027561G>A	ENST00000328913.3	-	10	1353	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	352					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGCATCACGCTGTCTCCAA	0.448		NA											False	0	False	3:183027561	0
RP4-583P15.15	0	broad.mit.edu	37	20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:62365008A>G	ENST00000490623.2	+	3	505	c.505A>G	c.(505-507)Acg>Gcg	p.T169A	ZGPAT_ENST00000328969.5_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G						NA											NA						GTGGAGGGGGACGGCATCCTG	0.617		NA											False	0	True	20:62365008	0
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Silent	SNP	C	C	T	rs143642849		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000329613.6_Silent_p.H617H|TSHZ2_ENST00000603338.2_Silent_p.H617H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517		NA											False	0	False	20:51871857	0
CREBRF	153222	broad.mit.edu	37	5	172518124	172518124	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:172518124A>G	ENST00000540014.1	+	4	1261	c.942A>G	c.(940-942)ggA>ggG	p.G314G	CREBRF_ENST00000522692.1_Silent_p.G314G|CREBRF_ENST00000520420.1_Silent_p.G314G|CREBRF_ENST00000296953.2_Silent_p.G314G			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	314							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				NA						TTGCAGCAGGAGAGAGCAGCA	0.478		NA											False	0	True	5:172518124	0
PCDHA1	0	broad.mit.edu	37	5	140166589	140166589	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140166589C>T	ENST00000504120.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA1_ENST00000394633.3_Silent_p.N238N|PCDHA1_ENST00000378133.3_Silent_p.N238N	NM_018900.2	NP_061723.1				NA										breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGATAACGCCCCACTGT	0.488		NA											False	0	False	5:140166589	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636461	43636461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:43636461G>A	ENST00000431635.2	-	5	726	c.578C>T	c.(577-579)gCg>gTg	p.A193V	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A138V	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	138					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCATTTCCGCAAAATAATC	0.473		NA											False	0	False	1:43636461	0
TACC2	10579	broad.mit.edu	37	10	123843041	123843041	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:123843041G>A	ENST00000369005.1	+	4	1366	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TACC2_ENST00000334433.3_Silent_p.P342P|TACC2_ENST00000515603.1_Silent_p.P342P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000515273.1_Silent_p.P342P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	342						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATATCTGCCGCACGCAGAGC	0.632		NA											False	0	True	10:123843041	0
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652		NA											False	0	True	9:117757	0
TAF4	6874	broad.mit.edu	37	20	60551330	60551330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:60551330G>A	ENST00000252996.4	-	15	3151	c.3152C>T	c.(3151-3153)aCg>aTg	p.T1051M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTTTGTCGCGTGAACTGTCT	0.537		NA											False	0	False	20:60551330	0
TG	7038	broad.mit.edu	37	8	133883773	133883773	+	Missense_Mutation	SNP	G	G	A	rs114781869	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:133883773G>A	ENST00000220616.4	+	4	495	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TG_ENST00000377869.1_Missense_Mutation_p.R152H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	152	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGGGACCCGCCAGCTGGGG	0.592		NA											False	0	True	8:133883773	0
SDAD1P1	0	broad.mit.edu	37	8	26237686	26237686	+	RNA	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:26237686T>C	ENST00000519902.1	-	0	2262										NA											NA						ATCATTACATTATTATCCTTG	0.438		NA											False	0	True	8:26237686	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA											False	0	False	2:112608394	0
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572		NA											False	0	False	16:4516232	0
NINL	22981	broad.mit.edu	37	20	25462667	25462667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:25462667G>A	ENST00000278886.6	-	14	1820	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	NINL_ENST00000422516.1_Missense_Mutation_p.R583W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	583					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGCTGTGCCGGTTCTTGGGC	0.692		NA											False	0	False	20:25462667	0
GRM1	2911	broad.mit.edu	37	6	146755420	146755420	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:146755420C>G	ENST00000361719.2	+	9	3543	c.3073C>G	c.(3073-3075)Cca>Gca	p.P1025A	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1025A|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1025	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCAACCCCCTCCACAGCAGAA	0.662		NA											False	0	False	6:146755420	0
IL21R	50615	broad.mit.edu	37	16	27448836	27448836	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:27448836C>T	ENST00000337929.3	+	4	653	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	60					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGAAGGACGAGGCCACCT	0.597		NA	T	BCL6	NHL								False	0	False	16:27448836	0
PPIP5K1	9677	broad.mit.edu	37	15	43827457	43827457	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:43827457G>A	ENST00000420765.1	-	31	3899	c.3717C>T	c.(3715-3717)tcC>tcT	p.S1239S	PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1239					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GCACCTGTGGGGACTGATTTG	0.562		NA											False	0	True	15:43827457	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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
MAP3K6	9064	broad.mit.edu	37	1	27687469	27687469	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:27687469C>T	ENST00000374040.3	-	13	2099	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	MAP3K6_ENST00000493901.1_Silent_p.T621T|MAP3K6_ENST00000357582.2_Silent_p.T621T			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	621					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCCGGGTTCGTCACCCAGG	0.716		NA											False	0	False	1:27687469	0
CELSR3	1951	broad.mit.edu	37	3	48691126	48691126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:48691126C>T	ENST00000544264.1	-	9	5654	c.5374G>A	c.(5374-5376)Gca>Aca	p.A1792T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1792T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1792	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCGAAATGCCAGCCCCAGG	0.602		NA											False	0	False	3:48691126	0
RRS1	23212	broad.mit.edu	37	8	67341954	67341954	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:67341954G>A	ENST00000320270.2	+	1	692	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	196					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGCCCGCGCGCACAAGATGC	0.652		NA											False	0	True	8:67341954	0
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:116049072C>T	ENST00000374199.4	+	9	1297	c.896C>T	c.(895-897)gCg>gTg	p.A299V	PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468		NA											False	0	False	9:116049072	0
BRD4	23476	broad.mit.edu	37	19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:15350213G>A	ENST00000263377.2	-	17	3787	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1189					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTTTTGGGCGCAACTGGAGT	0.627		NA	T	C15orf55	lethal midline carcinoma of young people								False	0	False	19:15350213	0
NAP1L5	266812	broad.mit.edu	37	4	89618369	89618369	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:89618369G>T	ENST00000323061.5	-	1	1017	c.537C>A	c.(535-537)gaC>gaA	p.D179E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	179					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		ACTTCTTGGCGTCATCAGGCA	0.557		NA											False	0	False	4:89618369	0
GCNT1	2650	broad.mit.edu	37	9	79118080	79118080	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79118080C>T	ENST00000442371.1	+	3	1722	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000376730.4_Silent_p.V261V|GCNT1_ENST00000444201.2_Silent_p.V261V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	261	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463		NA											False	0	False	9:79118080	0
GRIK1	2897	broad.mit.edu	37	21	30909555	30909555	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:30909555G>T	ENST00000399914.1	-	17	3322	c.2801C>A	c.(2800-2802)gCg>gAg	p.A934E	GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E|GRIK1_ENST00000389125.3_Missense_Mutation_p.A905E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTTGGATCACGCCACAGTCTC	0.393		NA											False	0	False	21:30909555	0
NRF1	4899	broad.mit.edu	37	7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493		NA											False	0	False	7:129349051	0
AOC4P	0	broad.mit.edu	37	17	41020316	41020316	+	RNA	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:41020316G>A	ENST00000585538.1	+	0	1155					NR_002773.1					NA											NA						CTTTGGCCTCGGAGCATTCAG	0.602		NA											False	0	False	17:41020316	0
HIRA	7290	broad.mit.edu	37	22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000546308.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000541063.1_Missense_Mutation_p.A433T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	477	Interaction with ASF1A.|Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488		NA											False	0	False	22:19365576	0
HIPK4	147746	broad.mit.edu	37	19	40886552	40886552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40886552G>A	ENST00000291823.2	-	3	1630	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTCGGAGACCGCATTGGTGCA	0.632		NA											False	0	False	19:40886552	0
GK2	2712	broad.mit.edu	37	4	80328648	80328648	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:80328648G>C	ENST00000358842.3	-	1	724	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	236					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GATCTCAGAAGAACTGAAGAC	0.413		NA											False	0	False	4:80328648	0
MATN1	4146	broad.mit.edu	37	1	31188936	31188936	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:31188936G>A	ENST00000373765.4	-	5	1062	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	343	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACATATTCCGCACAGCCGCC	0.592		NA											False	0	False	1:31188936	0
R3HDM2	22864	broad.mit.edu	37	12	57677715	57677715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:57677715G>A	ENST00000402412.1	-	13	1453	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	341	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACAGGGGGTCGCATGCTCCGG	0.592		NA											False	0	False	12:57677715	0
HDAC9	9734	broad.mit.edu	37	7	18668998	18668998	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000406451.4	+	7	831	c.681G>A	c.(679-681)cgG>cgA	p.R227R	HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	NA	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAAGGTGCGGTCCAGGTTAA	0.408		NA											False	0	False	7:18668998	0
GPC5	2262	broad.mit.edu	37	13	92380846	92380846	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:92380846G>T	ENST00000377067.3	+	4	1453	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	361						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGTTCTTTTGATCAGAGCAA	0.398		NA											False	0	True	13:92380846	0
PRDM2	7799	broad.mit.edu	37	1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1308						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TACCATCACCGTAACCCCATG	0.443		NA											False	0	False	1:14108213	0
ZNF883	169834	broad.mit.edu	37	9	115759599	115759599	+	RNA	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:115759599G>A	ENST00000427548.1	-	0	2214							P0CG24	ZN883_HUMAN	zinc finger protein 883	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA						TCCTGTATGCGTCCTCTGATG	0.378		NA											False	0	False	9:115759599	0
GATA3	2625	broad.mit.edu	37	10	8100716	8100716	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:8100716C>A	ENST00000379328.3	+	3	1258	c.690C>A	c.(688-690)agC>agA	p.S230R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S230R	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	230					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCGAGTACAGCTCCGGACTCT	0.697		NA	"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						False	0	False	10:8100716	0
FXYD6	53826	broad.mit.edu	37	11	117711040	117711040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117711040C>T	ENST00000526014.1	-	6	848	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6	NA										central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		TTACCATTGGCGGTGATGAGG	0.597		NA											False	0	False	11:117711040	0
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:2716164C>T	ENST00000399655.1	+	26	3489	c.3224C>T	c.(3223-3225)aCg>aTg	p.T1075M	CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557		NA											False	0	False	12:2716164	0
