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
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
SMAD4	4089	broad.mit.edu	37	18	48591861	48591861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:48591861delC	ENST00000588745.1	+	5	736	c.736delC	c.(736-738)cctfs	p.P246fs	SMAD4_ENST00000342988.3_Frame_Shift_Del_p.P342fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P342fs			Q13485	SMAD4_HUMAN	SMAD family member 4	342					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.F339_S343del(2)|p.?(2)		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)		ATTTAAGGTTCCTTCAAGCTG	0.443		NA											False	2	False	18:48591861	0
RUNX1	861	broad.mit.edu	37	21	36171709	36171710	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:36171709_36171710insAT	ENST00000344691.4	-	5	2351_2352	c.774_775insAT	c.(772-777)taccaafs	p.Q259fs	RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.Q286fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.Q195fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.Q274fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.Q286fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	259	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CCCAGGTATTGGTAGGACTGAT	0.505		NA	T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								False	0	False	21:36171709	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	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
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	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
HIST1H1B	3009	broad.mit.edu	37	6	27835072	27835074	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:27835072_27835074delTTC	ENST00000331442.3	-	1	285_287	c.234_236delGAA	c.(232-237)aagaat>aat	p.K78del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	78	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCGGCTGTTATTCTTCTCCACGT	0.557		NA											False	2	False	6:27835072	0
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	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
PHYKPL	85007	broad.mit.edu	37	5	177651565	177651565	+	Splice_Site	SNP	C	C	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:177651565C>G	ENST00000308158.5	-	6	736	c.502G>C	c.(502-504)Gca>Cca	p.A168P	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase	NA											NA						GGGAGAGGTGCCTGTGGGGAG	0.622		NA											False	0	False	5:177651565	0
LCT	3938	broad.mit.edu	37	2	136567449	136567449	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:136567449C>T	ENST00000264162.2	-	8	2478	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	823	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGCTGTCGCTGAAGTTGAC	0.502		NA											False	0	False	2:136567449	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
ZNF585B	92285	broad.mit.edu	37	19	37677113	37677113	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:37677113G>T	ENST00000532828.2	-	5	1577	c.1326C>A	c.(1324-1326)caC>caA	p.H442Q	ZNF585B_ENST00000531805.1_Missense_Mutation_p.H387Q|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H30Q	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCCCACAGTGACCACATT	0.393		NA											False	0	False	19:37677113	0
SEMA4C	54910	broad.mit.edu	37	2	97527143	97527143	+	Silent	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:97527143C>T	ENST00000305476.5	-	15	1854	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	574	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGCAGGGCAGCACCAGGTCTG	0.627		NA											False	0	False	2:97527143	0
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:6859874C>T	ENST00000419673.2	+	4	444	c.227C>T	c.(226-228)gCg>gTg	p.A76V	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	58					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433		NA											False	0	False	18:6859874	0
GNL3	26354	broad.mit.edu	37	3	52728222	52728222	+	Silent	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52728222A>G	ENST00000394799.2	+	15	1755	c.1545A>G	c.(1543-1545)acA>acG	p.T515T	GNL3_ENST00000418458.1_Silent_p.T527T	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	527	Acidic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAGTCTACAAGGTCTTTTA	0.333		NA											False	0	False	3:52728222	0
NUP210	23225	broad.mit.edu	37	3	13401880	13401880	+	Missense_Mutation	SNP	C	C	T	rs149471357		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:13401880C>T	ENST00000254508.5	-	15	2126	c.2044G>A	c.(2044-2046)Gtc>Atc	p.V682I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	682					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCGGTGACGTTCTGGAAG	0.557		NA											False	0	False	3:13401880	0
UGT2B15	7366	broad.mit.edu	37	4	69533868	69533868	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:69533868C>G	ENST00000338206.5	-	2	772	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	255					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				NA						AGCCACATTTCAGCTTTCCCC	0.378		NA											False	0	True	4:69533868	0
PRX	57716	broad.mit.edu	37	19	40901352	40901352	+	Silent	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:40901352A>G	ENST00000324001.7	-	7	3177	c.2907T>C	c.(2905-2907)gcT>gcC	p.A969A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	969					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCCACCCGAGCCTTGGGGA	0.642		NA											False	0	False	19:40901352	0
ZNF582	147948	broad.mit.edu	37	19	56901800	56901800	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56901800T>G	ENST00000301310.4	-	3	238	c.80A>C	c.(79-81)cAg>cCg	p.Q27P	ZNF582_ENST00000586929.1_Missense_Mutation_p.Q27P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAAATCCCTCTGAGCAGGTGC	0.483		NA											False	0	False	19:56901800	0
ABCC6	368	broad.mit.edu	37	16	16248786	16248786	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16248786G>C	ENST00000205557.7	-	28	4014	c.3985C>G	c.(3985-3987)Ccc>Gcc	p.P1329A		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1329	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGGCAATGGGGACCCCGTCG	0.677		NA											False	0	True	16:16248786	0
LRP2	4036	broad.mit.edu	37	2	170090020	170090020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:170090020G>A	ENST00000263816.3	-	30	5284	c.4999C>T	c.(4999-5001)Cga>Tga	p.R1667*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1667					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTTGGCTCGCATAACCCGA	0.478		NA											False	0	False	2:170090020	0
RNF43	54894	broad.mit.edu	37	17	56492875	56492875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:56492875G>A	ENST00000584437.1	-	1	2019	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q22*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q22*			Q68DV7	RNF43_HUMAN	ring finger protein 43	22						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.Q22*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCCTGCCTGCAGGGTAGCC	0.552		NA											False	0	True	17:56492875	0
KRT17	3872	broad.mit.edu	37	17	39780381	39780381	+	Silent	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:39780381G>A	ENST00000311208.8	-	1	448	c.381C>T	c.(379-381)ccC>ccT	p.P127P	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	127	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTCACGGGCGGGCCCCGGGG	0.642		NA											False	0	True	17:39780381	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	12:25398285	0
NEK4	6787	broad.mit.edu	37	3	52778267	52778267	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52778267T>C	ENST00000233027.5	-	11	2084	c.1882A>G	c.(1882-1884)Atg>Gtg	p.M628V	NEK4_ENST00000383721.4_Missense_Mutation_p.M582V|NEK4_ENST00000535191.1_Missense_Mutation_p.M539V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	628					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GAAGAGGACATTTCTTCCTGT	0.418		NA											False	0	True	3:52778267	0
ABHD6	57406	broad.mit.edu	37	3	58270837	58270837	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:58270837G>A	ENST00000478253.1	+	8	1208	c.707G>A	c.(706-708)cGc>cAc	p.R236H	ABHD6_ENST00000295962.4_Missense_Mutation_p.R236H			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	236						integral to membrane	acylglycerol lipase activity	p.R236H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GTCGATGTCCGCATCCCTCAT	0.443		NA											False	0	False	3:58270837	0
ARNTL	406	broad.mit.edu	37	11	13378443	13378443	+	Silent	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:13378443C>T	ENST00000403482.3	+	1	19	c.15C>T	c.(13-15)gcC>gcT	p.A5A	ARNTL_ENST00000403290.1_Intron|ARNTL_ENST00000403510.3_Intron|ARNTL_ENST00000396441.3_Intron|ARNTL_ENST00000389707.4_Intron|ARNTL_ENST00000389708.3_Intron|ARNTL_ENST00000401424.1_Intron|ARNTL_ENST00000361003.4_Intron			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCAAGGAGGCCGTGAGCCTGT	0.507		NA											False	0	False	11:13378443	0
NLRP8	126205	broad.mit.edu	37	19	56477724	56477724	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56477724C>T	ENST00000291971.3	+	5	2430	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R787W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	787						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGATCCCCCCGGTGCCGTCT	0.542		NA											False	0	True	19:56477724	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281517	145281517	+	Silent	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:145281517T>C	ENST00000369340.3	+	5	891	c.447T>C	c.(445-447)atT>atC	p.I149I	NOTCH2NL_ENST00000362074.6_Silent_p.I149I|NOTCH2NL_ENST00000344859.3_Silent_p.I149I|RP11-458D21.5_ENST00000468030.1_Silent_p.I149I			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	149	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGTGTGACATTCCAGGACACT	0.552		NA											False	0	False	1:145281517	0
HLCS	3141	broad.mit.edu	37	21	38269242	38269242	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:38269242G>A	ENST00000399120.1	-	7	2599	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	HLCS_ENST00000336648.4_Missense_Mutation_p.R457C|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	457					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGATTTTGGCGATAGATCTCT	0.468		NA											False	0	False	21:38269242	0
TBC1D19	55296	broad.mit.edu	37	4	26756566	26756566	+	Silent	SNP	C	C	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:26756566C>G	ENST00000264866.4	+	21	1856	c.1578C>G	c.(1576-1578)acC>acG	p.T526T	TBC1D19_ENST00000511789.1_Silent_p.T461T	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	526						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTACTGTCACCTGATCTTCTT	0.323		NA											False	0	False	4:26756566	0
MUC5B	727897	broad.mit.edu	37	11	1263793	1263793	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:1263793G>A	ENST00000447027.1	+	31	5750	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1895	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCCACGGCCACGCCCTC	0.617		NA											False	0	False	11:1263793	0
PAH	5053	broad.mit.edu	37	12	103306580	103306580	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:103306580G>A	ENST00000553106.1	-	2	629	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.R48C	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	53	ACT.		R -> H (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCAAATAAGCGCAATACTTTG	0.383		NA											False	0	False	12:103306580	0
PCDHB7	0	broad.mit.edu	37	5	140554552	140554552	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140554552C>G	ENST00000231137.3	+	1	2310	c.2136C>G	c.(2134-2136)tgC>tgG	p.C712W		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGCTGTGCAGGAGGAGCA	0.672		NA											False	0	False	5:140554552	0
ZSCAN25	221785	broad.mit.edu	37	7	99219001	99219001	+	Silent	SNP	A	A	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:99219001A>T	ENST00000394152.2	+	5	720	c.393A>T	c.(391-393)ccA>ccT	p.P131P	ZSCAN25_ENST00000262941.6_Silent_p.P131P|ZSCAN25_ENST00000334715.3_Silent_p.P131P|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25	NA											NA						CTTAGGTTCCATGCCACAGGC	0.522		NA											False	0	False	7:99219001	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970917	45970917	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:45970917A>G	ENST00000391621.1	-	1	471	c.425T>C	c.(424-426)gTg>gCg	p.V142A	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	142	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GCAGACAGGCACACGGCAGGA	0.622		NA											False	0	False	21:45970917	0
DNAH1	25981	broad.mit.edu	37	3	52388864	52388864	+	Silent	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52388864G>A	ENST00000420323.2	+	21	3747	c.3486G>A	c.(3484-3486)ctG>ctA	p.L1162L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1162	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAGGCACTGGACAAGATGG	0.612		NA											False	0	False	3:52388864	0
ZNF823	55552	broad.mit.edu	37	19	11833554	11833554	+	Silent	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:11833554T>C	ENST00000341191.6	-	4	948	c.795A>G	c.(793-795)agA>agG	p.R265R	ZNF823_ENST00000545749.1_Silent_p.R83R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTCTCATGTCTTAGATAGG	0.418		NA								HNSCC(68;0.2)			False	0	False	19:11833554	0
ACTB	60	broad.mit.edu	37	7	5567750	5567750	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:5567750C>T	ENST00000331789.5	-	5	1060	c.869G>A	c.(868-870)cGc>cAc	p.R290H	AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	290					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGGTCTTTGCGGATGTCCAC	0.562		NA											False	0	False	7:5567750	0
NT5C1B	93034	broad.mit.edu	37	2	18767583	18767583	+	Silent	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:18767583G>A	ENST00000304081.4	-	3	295	c.195C>T	c.(193-195)tcC>tcT	p.S65S	NT5C1B_ENST00000600945.1_Silent_p.S125S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S125S|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Silent_p.S125S	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB	NA										endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATGGGCTCCGGGATATTCTAG	0.488		NA											False	0	True	2:18767583	0
UGT2B10	7365	broad.mit.edu	37	4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388		NA											False	0	False	4:69683833	0
PKHD1	5314	broad.mit.edu	37	6	51921495	51921495	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:51921495C>T	ENST00000371117.3	-	18	1969		c.e18+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	NA					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACGGACAGCACCTCGTTCAAA	0.403		NA											False	0	False	6:51921495	0
AKT3	10000	broad.mit.edu	37	1	243778456	243778456	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:243778456A>G	ENST00000366539.1	-	7	769	c.569T>C	c.(568-570)gTg>gCg	p.V190A	AKT3_ENST00000336199.5_Missense_Mutation_p.V190A|AKT3_ENST00000263826.5_Missense_Mutation_p.V190A|AKT3_ENST00000366540.1_Missense_Mutation_p.V190A			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	190	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGTGTGTGCCACTTCATCCTA	0.328		NA											False	0	False	1:243778456	0
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632		NA											False	0	False	14:105416584	0
SCAF1	58506	broad.mit.edu	37	19	50154632	50154632	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:50154632C>T	ENST00000360565.3	+	7	1110	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	329					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCACACAGCCGACTCCCGCC	0.701		NA											False	0	False	19:50154632	0
MARCH8	220972	broad.mit.edu	37	10	45954652	45954652	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr10:45954652C>T	ENST00000453424.2	-	7	1594	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	MARCH8_ENST00000395771.3_Missense_Mutation_p.V163I|MARCH8_ENST00000319836.3_Missense_Mutation_p.V163I|MARCH8_ENST00000395769.2_Missense_Mutation_p.V163I|MARCH8_ENST00000476962.1_5'UTR	NM_001282866.1	NP_001269795.1	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	163						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATGGCAATGACGTGGAATGTC	0.527		NA											False	0	False	10:45954652	0
HVCN1	84329	broad.mit.edu	37	12	111121035	111121035	+	Missense_Mutation	SNP	C	C	T	rs147424254		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:111121035C>T	ENST00000356742.5	-	2	769	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	HVCN1_ENST00000242607.8_Missense_Mutation_p.E6K|HVCN1_ENST00000439744.2_Intron|HVCN1_ENST00000548312.1_Missense_Mutation_p.E6K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	6					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATTACCTTTTCGTCCCAGGTG	0.458		NA											False	0	True	12:111121035	0
DYNC1I1	1780	broad.mit.edu	37	7	95442629	95442629	+	Silent	SNP	C	C	T	rs145885345		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:95442629C>T	ENST00000324972.6	+	4	538	c.345C>T	c.(343-345)ggC>ggT	p.G115G	DYNC1I1_ENST00000359388.4_Silent_p.G98G|DYNC1I1_ENST00000537881.1_Silent_p.G98G|DYNC1I1_ENST00000437599.1_Silent_p.G115G|DYNC1I1_ENST00000413338.1_Silent_p.G98G|DYNC1I1_ENST00000447467.2_Silent_p.G98G|DYNC1I1_ENST00000457059.1_Silent_p.G98G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	115	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAGACTCAGGCGATCTGGGGC	0.423		NA											False	0	False	7:95442629	0
FGF8	2253	broad.mit.edu	37	10	103534555	103534555	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr10:103534555C>T	ENST00000347978.2	-	3	353	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	FGF8_ENST00000346714.3_Missense_Mutation_p.G51R|FGF8_ENST00000344255.3_Missense_Mutation_p.G80R|FGF8_ENST00000320185.2_Missense_Mutation_p.G91R|FGF8_ENST00000485728.1_5'UTR	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	80					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACGTGCTTCCCGCTGGTGCGG	0.617		NA											False	0	True	10:103534555	0
INPP5B	3633	broad.mit.edu	37	1	38354008	38354008	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:38354008G>A	ENST00000373023.2	-	10	1139	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373026.1_Missense_Mutation_p.A349V|INPP5B_ENST00000373027.1_Missense_Mutation_p.A105V|INPP5B_ENST00000458109.2_Missense_Mutation_p.A32V|INPP5B_ENST00000373024.3_Missense_Mutation_p.A269V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	349					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTTCCCGCAAAAAACCT	0.458		NA											False	0	True	1:38354008	0
ACTRT1	139741	broad.mit.edu	37	X	127185142	127185142	+	Silent	SNP	G	G	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:127185142G>T	ENST00000371124.3	-	1	1240	c.1044C>A	c.(1042-1044)acC>acA	p.T348T		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	348						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGCTCATAGAGGTCATGATGG	0.473		NA											False	0	False	X:127185142	0
IGHV3-48	0	broad.mit.edu	37	14	106993873	106993873	+	RNA	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:106993873G>A	ENST00000390624.2	-	0	370										NA											NA						TGCAGATACAGTGAGTTCTTG	0.493		NA											False	0	False	14:106993873	0
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20	NA								p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507		NA											False	0	False	1:148346684	0
UTRN	7402	broad.mit.edu	37	6	144780435	144780435	+	Silent	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:144780435C>T	ENST00000367545.3	+	20	2652	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	884	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTTTCTGGGCCGCTACCAAG	0.483		NA											False	0	True	6:144780435	0
KIAA1211	57482	broad.mit.edu	37	4	57182165	57182165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57182165C>T	ENST00000504228.1	+	6	2602	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P833S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P826S			Q6ZU35	K1211_HUMAN	KIAA1211	833										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAAGCCAGACCCTGTGATGCC	0.532		NA											False	0	True	4:57182165	0
KCNA5	3741	broad.mit.edu	37	12	5154148	5154148	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:5154148C>A	ENST00000252321.3	+	1	1064	c.835C>A	c.(835-837)Cgt>Agt	p.R279S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	279						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CAGGGATGAACGTGAGCTGCT	0.687		NA											False	0	False	12:5154148	0
PLS1	5357	broad.mit.edu	37	3	142396872	142396872	+	Splice_Site	SNP	A	A	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:142396872A>T	ENST00000337777.3	+	6	710		c.e6-1		PLS1_ENST00000497002.1_Splice_Site|PLS1_ENST00000457734.2_Splice_Site	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	NA						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTTTCTCTTTAGCAAAATGAT	0.274		NA											False	0	True	3:142396872	0
SPINK2	6691	broad.mit.edu	37	4	57676313	57676313	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57676313G>A	ENST00000506738.1	-	4	476	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	SPINK2_ENST00000248701.4_Missense_Mutation_p.P83S|SPINK2_ENST00000504762.1_Missense_Mutation_p.P118S	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	83						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					CATCAGCAGGGTCCATTTCGA	0.368		NA											False	0	True	4:57676313	0
CISH	1154	broad.mit.edu	37	3	50645400	50645400	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:50645400G>C	ENST00000443053.2	-	4	693	c.466C>G	c.(466-468)Cgt>Ggt	p.R156G	CISH_ENST00000348721.3_Missense_Mutation_p.R139G	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	139	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GAGTCCAGACGGAAGCTGGAG	0.582		NA											False	0	False	3:50645400	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA											False	0	True	2:107049681	0
ABCC6	368	broad.mit.edu	37	16	16284080	16284080	+	Missense_Mutation	SNP	G	G	A	rs72664217		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16284080G>A	ENST00000205557.7	-	12	1605	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	526	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCGGAGGTCCGCAAGGCGCCC	0.577		NA											False	0	False	16:16284080	0
SNX6	58533	broad.mit.edu	37	14	35072604	35072604	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:35072604T>C	ENST00000396526.3	-	5	614	c.118A>G	c.(118-120)Att>Gtt	p.I40V	SNX6_ENST00000355110.5_Missense_Mutation_p.I44V|SNX6_ENST00000396534.3_Missense_Mutation_p.I40V|SNX6_ENST00000362031.4_Missense_Mutation_p.I168V			Q9UNH7	SNX6_HUMAN	sorting nexin 6	156	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTTCTCAAAATAGGATGTGCT	0.338		NA											False	0	True	14:35072604	0
PHIP	55023	broad.mit.edu	37	6	79655783	79655783	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:79655783G>A	ENST00000275034.4	-	38	4732	c.4565C>T	c.(4564-4566)tCt>tTt	p.S1522F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1522					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGAAGAAGTAGATGGTTGCTC	0.388		NA											False	0	False	6:79655783	0
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672		NA									OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	False	0	True	6:88299660	0
PCDHGA1	0	broad.mit.edu	37	5	140711696	140711696	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140711696A>G	ENST00000517417.1	+	1	1445	c.1445A>G	c.(1444-1446)aAt>aGt	p.N482S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N482S	NM_018912.2	NP_061735.1				NA										breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGACAGCAATGAGAATGCA	0.532		NA											False	0	False	5:140711696	0
MED18	54797	broad.mit.edu	37	1	28661125	28661125	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:28661125C>T	ENST00000373842.4	+	3	480	c.271C>T	c.(271-273)Cca>Tca	p.P91S	MED18_ENST00000398997.2_Missense_Mutation_p.P91S|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	91					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGACAGCCAGAAATGGG	0.582		NA											False	0	False	1:28661125	0
ZC3H7A	29066	broad.mit.edu	37	16	11868213	11868213	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:11868213G>C	ENST00000396516.2	-	8	979	c.782C>G	c.(781-783)gCa>gGa	p.A261G	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A261G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	261						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCCTCCATTTGCCAGCACTGC	0.473		NA											False	0	True	16:11868213	0
RIMS2	9699	broad.mit.edu	37	8	105160951	105160951	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr8:105160951C>T	ENST00000436393.2	+	23	3504	c.3263C>T	c.(3262-3264)tCt>tTt	p.S1088F	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	516					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAGCCAGTCTGACACTGCA	0.517		NA								HNSCC(12;0.0054)			False	0	False	8:105160951	0
CENPF	1063	broad.mit.edu	37	1	214832306	214832306	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:214832306A>T	ENST00000366955.3	+	19	9244	c.9076A>T	c.(9076-9078)Agt>Tgt	p.S3026C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3122	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCCCCACTGAGTCTCGGCAA	0.517		NA									OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:214832306	0
PCDHB7	0	broad.mit.edu	37	5	140554541	140554541	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140554541G>T	ENST00000231137.3	+	1	2299	c.2125G>T	c.(2125-2127)Gtg>Ttg	p.V709L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		709					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTGGCGGTGCGGCTGTG	0.697		NA											False	0	False	5:140554541	0
LRFN1	57622	broad.mit.edu	37	19	39805357	39805357	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:39805357A>T	ENST00000248668.4	-	1	619	c.620T>A	c.(619-621)gTg>gAg	p.V207E	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	207						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGAAGCTGCACGAAGGTCCC	0.647		NA											False	0	False	19:39805357	0
ZFAS1	0	broad.mit.edu	37	20	47896888	47896888	+	RNA	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr20:47896888C>T	ENST00000450535.1	+	0	644				ZFAS1_ENST00000458653.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000371743.3_RNA						NA											NA						CTTTTTTCCCCGACAGATCGA	0.448		NA											False	0	True	20:47896888	0
OR4C6	219432	broad.mit.edu	37	11	55433335	55433335	+	Silent	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:55433335G>A	ENST00000314259.3	+	1	722	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507		NA											False	0	False	11:55433335	0
