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
TNFRSF8	943	broad.mit.edu	37	1	12170181	12170181	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:12170181G>A	uc001atq.2	+	6	818	c.596G>A	c.(595-597)CGC>CAC	p.R199H	TNFRSF8_uc010obc.1_Missense_Mutation_p.R88H	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	199	Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGCACCCGCCTCGCCCAG	0.622000												
PADI2	11240	broad.mit.edu	37	1	17402248	17402248	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:17402248C>A	uc001baf.2	-	12	1463	c.1381G>T	c.(1381-1383)GAG>TAG	p.E461*	PADI2_uc010ocm.1_Nonsense_Mutation_p.E345*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	461					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GAGTAGAGCTCCACGGGCGCC	0.602000											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PINK1	65018	broad.mit.edu	37	1	20971110	20971110	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:20971110C>T	uc001bdm.2	+	4	998	c.904C>T	c.(904-906)CGC>TGC	p.R302C		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	302	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTGCCCTCACGCCTCCACCC	0.642000												
SRRM1	10250	broad.mit.edu	37	1	24989244	24989244	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:24989244C>T	uc001bjm.2	+	12	1801	c.1577C>T	c.(1576-1578)TCC>TTC	p.S526F	SRRM1_uc010oel.1_Missense_Mutation_p.S524F|SRRM1_uc009vrh.1_Missense_Mutation_p.S485F|SRRM1_uc009vri.1_Missense_Mutation_p.S441F|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	526	Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CATTCCCCTTCCCGGAGTGCT	0.502000												
GMEB1	10691	broad.mit.edu	37	1	29040683	29040683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:29040683C>T	uc001bra.2	+	10	1258	c.1120C>T	c.(1120-1122)CCT>TCT	p.P374S	GMEB1_uc001bqz.2_Missense_Mutation_p.P364S|GMEB1_uc001brb.2_Missense_Mutation_p.P364S	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGAGCACTCCTAAGCCTCC	0.557000												
LRRC7	57554	broad.mit.edu	37	1	70505053	70505053	+	Silent	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:70505053C>A	uc001dep.2	+	19	3462	c.3432C>A	c.(3430-3432)GGC>GGA	p.G1144G	LRRC7_uc009wbg.2_Silent_p.G428G|LRRC7_uc001deq.2_Silent_p.G385G	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1144						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						ATAGGTACGGCAGACCCCCAT	0.547000												
TNNI3K	51086	broad.mit.edu	37	1	74834948	74834948	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:74834948G>A	uc001dgf.1	+	15	1523	c.1472G>A	c.(1471-1473)CGT>CAT	p.R491H	TNNI3K_uc001dgc.1_Missense_Mutation_p.R592H|TNNI3K_uc001dgd.2_Missense_Mutation_p.R592H|TNNI3K_uc001dge.1_Missense_Mutation_p.R592H	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	491	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTATAAAACGGTAAGCAAGC	0.328000												
ELTD1	64123	broad.mit.edu	37	1	79357356	79357356	+	Silent	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:79357356G>A	uc001diq.3	-	14	2019	c.1863C>T	c.(1861-1863)CTC>CTT	p.L621L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	621	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACAGAAGAGCGAGGGCTCCTC	0.463000												
PEX19	5824	broad.mit.edu	37	1	160253356	160253356	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:160253356C>T	uc001fvs.2	-	2	171	c.144G>A	c.(142-144)TCG>TCA	p.S48S	DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	48	Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGGGGCCCCGAAGCATCAG	0.567000												
HMCN1	83872	broad.mit.edu	37	1	185947011	185947011	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:185947011C>T	uc001grq.1	+	16	2693	c.2464C>T	c.(2464-2466)CCA>TCA	p.P822S	HMCN1_uc001grr.1_Missense_Mutation_p.P163S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	822	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTATCCAGAACCAACAATCAA	0.393000												
NR5A2	2494	broad.mit.edu	37	1	200014579	200014579	+	Silent	SNP	T	T	C			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:200014579T>C	uc001gvb.2	+	4	536	c.330T>C	c.(328-330)TTT>TTC	p.F110F	NR5A2_uc001gvc.2_Silent_p.F64F|NR5A2_uc009wzh.2_Silent_p.F70F|NR5A2_uc010pph.1_Silent_p.F38F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	110	Nuclear receptor.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					AGGGATTTTTTAAGCGAACAG	0.338000												
CR1L	1379	broad.mit.edu	37	1	207871117	207871117	+	Silent	SNP	G	G	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:207871117G>T	uc001hga.3	+	7	1162	c.1041G>T	c.(1039-1041)GTG>GTT	p.V347V	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	347	Sushi 5.					cytoplasm|extracellular region|membrane					0						TTTTTCCAGTGAAATCCTGTG	0.403000												
OR2L3	391192	broad.mit.edu	37	1	248224695	248224695	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:248224695C>G	uc001idx.1	+	1	712	c.712C>G	c.(712-714)CTG>GTG	p.L238V	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAAAGCCTACCTGACCTGCAG	0.473000												
ABI1	10006	broad.mit.edu	37	10	27149760	27149760	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr10:27149760C>T	uc001isx.2	-	1	200	c.33G>A	c.(31-33)GAG>GAA	p.E11E	ABI1_uc001ite.2_Silent_p.E11E|ABI1_uc010qdh.1_Silent_p.E11E|ABI1_uc010qdi.1_Silent_p.E11E|ABI1_uc001isy.2_Silent_p.E11E|ABI1_uc001ita.2_Silent_p.E11E|ABI1_uc001isz.2_Silent_p.E11E|ABI1_uc001itb.2_Silent_p.E11E|ABI1_uc001itc.2_Silent_p.E11E|ABI1_uc010qdj.1_Silent_p.E11E|ABI1_uc001itd.2_Silent_p.E11E|ABI1_uc010qdk.1_Silent_p.E11E	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	11					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						CAGACGGGATCTCCTCCTCTA	0.567000												
RASGEF1A	221002	broad.mit.edu	37	10	43693520	43693520	+	Missense_Mutation	SNP	C	C	T	rs138913845		TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr10:43693520C>T	uc001jap.1	-	10	1237	c.1156G>A	c.(1156-1158)GTT>ATT	p.V386I	RASGEF1A_uc001jao.1_Missense_Mutation_p.V394I	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	386	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						ATGTCCTTAACGAAGAGGTTG	0.552000											OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZMIZ1	57178	broad.mit.edu	37	10	81064968	81064968	+	Silent	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr10:81064968C>A	uc001kaf.2	+	20	2906	c.2334C>A	c.(2332-2334)ACC>ACA	p.T778T	ZMIZ1_uc001kag.2_Silent_p.T654T|ZMIZ1_uc010qlq.1_5'Flank	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	778	SP-RING-type.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGAGAGGGACCTGGAGGTGTC	0.597000												
MUC2	4583	broad.mit.edu	37	11	1093720	1093720	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:1093720T>G	uc001lsx.1	+	33	12652	c.12625T>G	c.(12625-12627)TTG>GTG	p.L4209V		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4209						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATTGCTGAGTTGACCACATC	0.607000												
GRIK4	2900	broad.mit.edu	37	11	120744839	120744839	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:120744839G>A	uc001pxn.2	+	10	1258	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	GRIK4_uc009zav.1_Missense_Mutation_p.R324Q|GRIK4_uc009zaw.1_Missense_Mutation_p.R324Q|GRIK4_uc009zax.1_Missense_Mutation_p.R324Q	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	324	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAACTGAACCGGAGCCAAGAG	0.517000												
TECTA	7007	broad.mit.edu	37	11	121028745	121028745	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:121028745G>A	uc010rzo.1	+	13	4501	c.4501G>A	c.(4501-4503)GCC>ACC	p.A1501T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1501	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTCGACGGCGCCTTCCTGCG	0.642000												
OR10S1	219873	broad.mit.edu	37	11	123847677	123847677	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:123847677C>T	uc001pzm.1	-	1	722	c.722G>A	c.(721-723)CGC>CAC	p.R241H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGTGCGGATGCGCAACACAGC	0.582000												
CACNA2D4	93589	broad.mit.edu	37	12	1995426	1995426	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:1995426T>A	uc001qjp.2	-	8	1187	c.956A>T	c.(955-957)GAC>GTC	p.D319V	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	319	VWFA.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCCAGGGTGTCCAAGATGGT	0.473000												
AMIGO2	347902	broad.mit.edu	37	12	47471424	47471424	+	Silent	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:47471424G>A	uc001rpm.2	-	3	2017	c.1362C>T	c.(1360-1362)TCC>TCT	p.S454S	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.S454S|AMIGO2_uc001rpl.2_Silent_p.S454S	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	454	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					GTTCATCAGCGGAGGCATCAC	0.512000												
TARBP2	6895	broad.mit.edu	37	12	53899824	53899824	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:53899824C>T	uc001sdo.2	+	9	1481	c.993C>T	c.(991-993)ACC>ACT	p.T331T	TARBP2_uc001sdp.2_Silent_p.T310T|TARBP2_uc001sdq.2_Silent_p.T187T|TARBP2_uc001sdr.2_Silent_p.T187T|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Silent_p.T310T|TARBP2_uc001sdu.2_Silent_p.T187T|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	331	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1						AACTGTCCACCCAGCCGGCCA	0.642000												
CKAP4	10970	broad.mit.edu	37	12	106633919	106633919	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:106633919G>A	uc001tlk.2	-	2	776	c.692C>T	c.(691-693)ACG>ATG	p.T231M		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	231						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						CTCCAGGGACGTGAAGTCCCG	0.562000												
DACT1	51339	broad.mit.edu	37	14	59113462	59113462	+	Silent	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr14:59113462G>A	uc001xdw.2	+	4	2285	c.2121G>A	c.(2119-2121)GCG>GCA	p.A707A	DACT1_uc010trv.1_Silent_p.A426A|DACT1_uc001xdx.2_Silent_p.A670A|DACT1_uc010trw.1_Silent_p.A426A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGTACCCCGCGCCTGTGCCTC	0.677000												
ZSCAN10	84891	broad.mit.edu	37	16	3140151	3140151	+	Silent	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr16:3140151G>A	uc002ctv.1	-	5	1207	c.1119C>T	c.(1117-1119)TCC>TCT	p.S373S	ZSCAN10_uc002cty.1_Silent_p.S34S|ZSCAN10_uc002ctw.1_Silent_p.S291S|ZSCAN10_uc002ctx.1_Silent_p.S301S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	373					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGGCGGGTTCGGAGGAGTGGG	0.716000												
GDPD3	79153	broad.mit.edu	37	16	30119574	30119574	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr16:30119574C>T	uc002dwp.2	-	9	858	c.779G>A	c.(778-780)AGG>AAG	p.R260K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R198K	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	260	GDPD.|Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						CAGACTCTTCCTCATGATCAG	0.557000												
CCDC47	57003	broad.mit.edu	37	17	61838708	61838708	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr17:61838708T>C	uc002jbs.3	-	5	887	c.551A>G	c.(550-552)GAT>GGT	p.D184G	CCDC47_uc010ddx.2_Missense_Mutation_p.D184G|CCDC47_uc002jbt.2_Missense_Mutation_p.D184G	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47 precursor	184						integral to membrane	protein binding				0						AGTTCCATCATCCCCTAGGGG	0.358000												
SDK2	54549	broad.mit.edu	37	17	71389865	71389865	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr17:71389865C>T	uc010dfm.2	-	27	3732	c.3732G>A	c.(3730-3732)TCG>TCA	p.S1244S	SDK2_uc002jjt.3_Silent_p.S403S|SDK2_uc010dfn.2_Silent_p.S923S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1244	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCTGGGTGTCCGAGTCCTTCT	0.592000												
ZNF396	252884	broad.mit.edu	37	18	32949588	32949588	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr18:32949588G>A	uc010xcf.1	-	4	731	c.599C>T	c.(598-600)TCA>TTA	p.S200L		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	200					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTTTTGCCTTGAAGCAGATTT	0.358000												
ALPK2	115701	broad.mit.edu	37	18	56247279	56247279	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr18:56247279C>T	uc002lhj.3	-	4	943	c.729G>A	c.(727-729)ACG>ACA	p.T243T		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	243							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GGTCACCATCCGTGAACTTTG	0.403000												
MUC16	94025	broad.mit.edu	37	19	9008193	9008193	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:9008193C>T	uc002mkp.2	-	41	39563	c.39359G>A	c.(39358-39360)CGG>CAG	p.R13120Q	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13122	Extracellular (Potential).|SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGACTGTTCCGGTCCAGGGT	0.542000												
MUC16	94025	broad.mit.edu	37	19	9015712	9015712	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:9015712T>G	uc002mkp.2	-	29	38315	c.38111A>C	c.(38110-38112)AAC>ACC	p.N12704T	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12706	SEA 5.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGGTGAAGTTGAGGGTGAA	0.488000												
CRLF1	9244	broad.mit.edu	37	19	18709587	18709587	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:18709587C>A	uc010ebt.1	-	3	716	c.522G>T	c.(520-522)AAG>AAT	p.K174N		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	174	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						CCAACCTAAGCTTGTACTTGA	0.607000												
ATP1A3	478	broad.mit.edu	37	19	42479904	42479904	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:42479904C>T	uc002osg.2	-	16	2294	c.2140G>A	c.(2140-2142)GCT>ACT	p.A714T	ATP1A3_uc010xwf.1_Missense_Mutation_p.A725T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A684T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A727T|ATP1A3_uc002osh.2_Missense_Mutation_p.A714T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	714	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TTCTTCAGAGCGGGGGAGTCG	0.532000												
CCDC8	83987	broad.mit.edu	37	19	46915005	46915005	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:46915005C>A	uc002pep.2	-	1	1915	c.1063G>T	c.(1063-1065)GCT>TCT	p.A355S		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	355	Potential.					plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TTATCTGCAGCCTCTGCCCCC	0.617000												
ELSPBP1	64100	broad.mit.edu	37	19	48519257	48519257	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:48519257T>G	uc002pht.2	+	4	471	c.316T>G	c.(316-318)TTC>GTC	p.F106V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	106	Fibronectin type-II 2.				single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CACCTCTGTCTTCGATGAGAA	0.517000												
C19orf41	126123	broad.mit.edu	37	19	50662827	50662827	+	Silent	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:50662827C>A	uc002prp.1	-	3	405	c.318G>T	c.(316-318)CTG>CTT	p.L106L		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	106	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		GCTCTTCCAGCAGAGGCTCAT	0.453000												
CACNG7	59284	broad.mit.edu	37	19	54445295	54445295	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:54445295C>T	uc002qcr.1	+	5	591	c.576C>T	c.(574-576)GCC>GCT	p.A192A		NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	192	Helical; (Potential).			GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CGCAGGGGGCCGGCGTGATGT	0.647000												
FCAR	2204	broad.mit.edu	37	19	55401080	55401080	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:55401080G>A	uc002qhr.1	+	5	912	c.715G>A	c.(715-717)GTG>ATG	p.V239M	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.V190M|FCAR_uc010esi.1_Missense_Mutation_p.V116M|FCAR_uc002qhu.1_Missense_Mutation_p.V143M|FCAR_uc002qhv.1_Missense_Mutation_p.V217M|FCAR_uc002qhw.1_Missense_Mutation_p.V227M|FCAR_uc002qhx.1_Missense_Mutation_p.V131M|FCAR_uc002qhy.1_Missense_Mutation_p.V205M|FCAR_uc002qhz.1_Missense_Mutation_p.R202H|FCAR_uc002qia.1_Missense_Mutation_p.V130M	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	239	Helical; (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		ACTGGTCCTCGTGGCTCTCTT	0.537000												
NCOA1	8648	broad.mit.edu	37	2	24964753	24964753	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr2:24964753T>A	uc002rfk.2	+	17	3662	c.3404T>A	c.(3403-3405)ATG>AAG	p.M1135K	NCOA1_uc010eye.2_Missense_Mutation_p.M1135K|NCOA1_uc002rfi.2_Missense_Mutation_p.M984K|NCOA1_uc002rfj.2_Missense_Mutation_p.M1135K|NCOA1_uc002rfl.2_Missense_Mutation_p.M1135K|NCOA1_uc010eyf.2_Missense_Mutation_p.M28K	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1135	Gln-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATGCTTATGAGGCAGCAA	0.542000			T	PAX3	alveolar rhadomyosarcoma							
MYH7B	57644	broad.mit.edu	37	20	33575071	33575071	+	Silent	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:33575071G>A	uc002xbi.1	+	14	1346	c.1254G>A	c.(1252-1254)GCG>GCA	p.A418A		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	376	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGAGCAGGCGGAGGCCGATG	0.567000												
ZNF335	63925	broad.mit.edu	37	20	44592422	44592422	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:44592422C>T	uc002xqw.2	-	8	1433	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	ZNF335_uc010zxk.1_Missense_Mutation_p.R282H	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCGACCTCGGCGCCGGGGCAG	0.617000												
PREX1	57580	broad.mit.edu	37	20	47260992	47260992	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:47260992C>T	uc002xtw.1	-	27	3579	c.3556G>A	c.(3556-3558)GTG>ATG	p.V1186M	PREX1_uc002xtv.1_Missense_Mutation_p.V483M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1186					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTACTTCTCACGCTGGTGTAG	0.602000												
GNAS	2778	broad.mit.edu	37	20	57415370	57415370	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:57415370G>A	uc002xzt.2	+	1	576	c.209G>A	c.(208-210)CGC>CAC	p.R70H	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	70					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCACCACCGCTCCGGCGCC	0.677000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
COL20A1	57642	broad.mit.edu	37	20	61943088	61943088	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:61943088C>T	uc011aau.1	+	13	1751	c.1651C>T	c.(1651-1653)CGT>TGT	p.R551C	COL20A1_uc011aav.1_Missense_Mutation_p.R372C	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	551	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCGGGGCATCCGTGCCAGGAC	0.697000												
MYO18B	84700	broad.mit.edu	37	22	26194047	26194047	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr22:26194047C>T	uc003abz.1	+	12	2754	c.2504C>T	c.(2503-2505)GCG>GTG	p.A835V	MYO18B_uc003aca.1_Missense_Mutation_p.A716V|MYO18B_uc010guy.1_Missense_Mutation_p.A716V|MYO18B_uc010guz.1_Missense_Mutation_p.A716V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.A348V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CACCTGGGTGCGGCGGGGGCC	0.662000												
PDHB	5162	broad.mit.edu	37	3	58413835	58413835	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr3:58413835T>C	uc003dkf.3	-	10	1035	c.1006A>G	c.(1006-1008)AAG>GAG	p.K336E	PDHB_uc003dke.3_Missense_Mutation_p.K294E|PDHB_uc003dkg.3_Missense_Mutation_p.K318E|PDHB_uc010hnl.2_3'UTR|PDHB_uc011bff.1_Missense_Mutation_p.K318E	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	336					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCTAGAATCTTTGCATAAGGC	0.413000												
ABLIM2	84448	broad.mit.edu	37	4	8009905	8009905	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:8009905A>G	uc003gko.2	-	15	1540	c.1397T>C	c.(1396-1398)CTC>CCC	p.L466P	ABLIM2_uc003gkk.2_Missense_Mutation_p.L130P|ABLIM2_uc003gkl.2_Missense_Mutation_p.L194P|ABLIM2_uc003gkj.3_Missense_Mutation_p.L500P|ABLIM2_uc003gkm.3_Missense_Mutation_p.L414P|ABLIM2_uc003gkp.2_Missense_Mutation_p.L425P|ABLIM2_uc003gkq.2_Missense_Mutation_p.L466P|ABLIM2_uc003gkr.2_Missense_Mutation_p.L415P|ABLIM2_uc003gks.3_Missense_Mutation_p.L426P|MIR95_hsa-mir-95|MI0000097_5'Flank	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	466					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						ATCCCCCTTGAGCATCAGCCA	0.522000												
KCTD8	386617	broad.mit.edu	37	4	44176968	44176968	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:44176968G>A	uc003gwu.2	-	2	1545	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	421						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TTTGTTTCCCGGGACTTGCTG	0.413000										HNSCC(17;0.042)		
LPHN3	23284	broad.mit.edu	37	4	62812713	62812713	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:62812713C>T	uc010ihh.2	+	13	2470	c.2297C>T	c.(2296-2298)ACG>ATG	p.T766M	LPHN3_uc003hcq.3_Missense_Mutation_p.T766M|LPHN3_uc003hct.2_Missense_Mutation_p.T159M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	753	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AAGTTGGGAACGGAAGCTTTG	0.403000												
KIAA1109	84162	broad.mit.edu	37	4	123178476	123178476	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:123178476A>C	uc003ieh.2	+	39	6490	c.6445A>C	c.(6445-6447)AAG>CAG	p.K2149Q	KIAA1109_uc003iel.1_Missense_Mutation_p.K84Q|KIAA1109_uc003iek.2_Missense_Mutation_p.K768Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2149					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GCAGTGGATGAAGTTTATTGT	0.418000												
FAT4	79633	broad.mit.edu	37	4	126240497	126240497	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:126240497C>T	uc003ifj.3	+	1	2931	c.2931C>T	c.(2929-2931)TCC>TCT	p.S977S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	977	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACAGCTCTCCTCTAGTGTCA	0.448000												
CDH12	1010	broad.mit.edu	37	5	22078727	22078727	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:22078727A>G	uc010iuc.2	-	2	517	c.59T>C	c.(58-60)CTA>CCA	p.L20P	CDH12_uc011cno.1_Missense_Mutation_p.L20P|CDH12_uc003jgk.2_Missense_Mutation_p.L20P	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	20					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TAGTGGTGTTAGGAGACCTCC	0.448000										HNSCC(59;0.17)		
DEPDC1B	55789	broad.mit.edu	37	5	59899243	59899243	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:59899243C>T	uc003jsh.2	-	9	1290	c.1217G>A	c.(1216-1218)CGT>CAT	p.R406H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R406H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R379H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	406					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ATGAGCCACACGCTCCTCTAT	0.433000												
PPIP5K2	23262	broad.mit.edu	37	5	102490450	102490450	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:102490450G>T	uc003kod.3	+	12	1812	c.1293_splice	c.e12+1	p.Q431_splice	PPIP5K2_uc011cva.1_Splice_Site|PPIP5K2_uc003koe.2_Splice_Site_p.Q431_splice|PPIP5K2_uc010jbo.1_Splice_Site_p.Q353_splice	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1						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			ovary(1)|skin(1)	2						ACAGTTACAGGCAAGTGTATT	0.229000												
LOC153328	153328	broad.mit.edu	37	5	135188428	135188428	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:135188428C>T	uc003laz.1	+	4	511	c.339C>T	c.(337-339)GCC>GCT	p.A113A	LOC153328_uc003lba.2_Silent_p.A113A			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	113	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCATGGTGGCCGGCGTGGTCT	0.662000												
PCDHA5	56143	broad.mit.edu	37	5	140202806	140202806	+	Silent	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:140202806C>T	uc003lhl.2	+	1	1446	c.1446C>T	c.(1444-1446)GAC>GAT	p.D482D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.D482D|PCDHA5_uc003lhj.1_Silent_p.D482D	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	482	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGCGGACGCGCAGGAGA	0.667000												
PCDHA11	56138	broad.mit.edu	37	5	140250862	140250862	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:140250862C>T	uc003lia.2	+	1	3032	c.2174C>T	c.(2173-2175)ACG>ATG	p.T725M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T725M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	725	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGGCAACGCCCACTGAG	0.667000												
LY86	9450	broad.mit.edu	37	6	6589058	6589058	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:6589058G>A	uc003mwy.1	+	1	125	c.91G>A	c.(91-93)GTG>ATG	p.V31M	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	31					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					GCCCACACACGTGGTCTGTAG	0.577000												
TNXB	7148	broad.mit.edu	37	6	32035444	32035444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:32035444C>T	uc003nzl.2	-	18	6740	c.6538G>A	c.(6538-6540)GTC>ATC	p.V2180I		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2252					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCACCCGTGACGCCCACAGCA	0.637000												
COL12A1	1303	broad.mit.edu	37	6	75847211	75847211	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:75847211C>T	uc003phs.2	-	31	5502	c.5336G>A	c.(5335-5337)CGT>CAT	p.R1779H	COL12A1_uc003pht.2_Missense_Mutation_p.R615H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1779	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTTCTGCACACGACCACTAGC	0.403000												
NT5E	4907	broad.mit.edu	37	6	86197098	86197098	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:86197098A>T	uc003pko.3	+	5	1551	c.995A>T	c.(994-996)GAT>GTT	p.D332V	NT5E_uc010kbr.2_Missense_Mutation_p.D332V	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	332					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ATAAAATTGGATAATTATTCT	0.378000												
EPHA7	2045	broad.mit.edu	37	6	93955108	93955108	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:93955108T>A	uc003poe.2	-	16	3031	c.2790A>T	c.(2788-2790)GAA>GAT	p.E930D	EPHA7_uc003pof.2_Missense_Mutation_p.E925D|EPHA7_uc011eac.1_Missense_Mutation_p.E926D	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	930	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTGTAGCCATTCTCCAACTG	0.383000												
POPDC3	64208	broad.mit.edu	37	6	105606547	105606547	+	Missense_Mutation	SNP	C	C	T	rs111547826		TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:105606547C>T	uc003prb.2	-	4	1076	c.674G>A	c.(673-675)CGC>CAC	p.R225H	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	225						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGAGATGTAGCGATGCTGAGC	0.398000												
AKD1	221264	broad.mit.edu	37	6	109871483	109871483	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:109871483C>A	uc003ptn.2	-	25	2851	c.2774G>T	c.(2773-2775)AGA>ATA	p.R925I	AKD1_uc011eat.1_Missense_Mutation_p.R4I	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	925					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATGCCTCTTTCTCTCCTTCAT	0.368000												
PLG	5340	broad.mit.edu	37	6	161152156	161152156	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:161152156G>A	uc003qtm.3	+	11	1393	c.1330G>A	c.(1330-1332)GTC>ATC	p.V444I		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	444	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACCCCAGCGTCAGGTGGGA	0.502000												
EIF3B	8662	broad.mit.edu	37	7	2416710	2416710	+	Silent	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr7:2416710G>A	uc003slx.2	+	15	2237	c.2154G>A	c.(2152-2154)AAG>AAA	p.K718K	EIF3B_uc003sly.2_Silent_p.K718K|EIF3B_uc003sma.2_Silent_p.K446K|EIF3B_uc003smb.2_RNA	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	718					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AACAGATCAAGGTCAGCATGC	0.592000												
TAX1BP1	8887	broad.mit.edu	37	7	27831706	27831706	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr7:27831706G>A	uc003szl.2	+	9	1278	c.1120G>A	c.(1120-1122)GCT>ACT	p.A374T	TAX1BP1_uc011jzo.1_Missense_Mutation_p.A374T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A374T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A217T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	374	Oligomerization.|Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			TGTCTTTCTGGCTAAAGAACT	0.433000												
PAG1	55824	broad.mit.edu	37	8	81889066	81889066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr8:81889066C>A	uc003ybz.2	-	9	1723	c.1012G>T	c.(1012-1014)GAG>TAG	p.E338*		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	338	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TAGGTGGACTCCGGAACTGTA	0.453000												
ASMT	438	broad.mit.edu	37	X	1755356	1755356	+	Silent	SNP	G	G	A			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:1755356G>A	uc004cqd.2	+	9	958	c.813G>A	c.(811-813)CCG>CCA	p.P271P	ASMT_uc010ncy.2_Silent_p.P271P|ASMT_uc004cqe.2_Silent_p.P196P	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	243					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCCTCTTCCGGAAGCTGATC	0.537000												
CLCN4	1183	broad.mit.edu	37	X	10176607	10176607	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:10176607A>T	uc004csy.3	+	9	1796	c.1366A>T	c.(1366-1368)ACC>TCC	p.T456S	CLCN4_uc011mid.1_Missense_Mutation_p.T362S	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	456	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						AATCGTCGTTACCATATTTAC	0.522000												
USP51	158880	broad.mit.edu	37	X	55513741	55513741	+	Silent	SNP	T	T	C			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:55513741T>C	uc004dun.1	-	2	1711	c.1632A>G	c.(1630-1632)CCA>CCG	p.P544P	USP51_uc011moo.1_Silent_p.P248P	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	544					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						AGGGGATTCCTGGTATGTGGT	0.517000												
AVPR2	554	broad.mit.edu	37	X	153171867	153171882	+	Splice_Site	DEL	GAAGGTGGGTGTAGCC	GAAGGTGGGTGTAGCC	-			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:153171866_153171881GGAAGGTGGGTGTAGCC>G	uc004fjh.4	+	2	1082	c.910_splice	c.e2+1	p.G304_splice	AVPR2_uc004fjg.4_Splice_Site_p.G93_splice|AVPR2_uc004fji.3_Frame_Shift_Del_p.L302fs	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	304					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGG	0.648												
AVPR2	554	broad.mit.edu	37	X	153171867	153171882	+	Splice_Site	DEL	GAAGGTGGGTGTAGCC	GAAGGTGGGTGTAGCC	-			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:153171866_153171881GGAAGGTGGGTGTAGCC>G	uc004fjh.4	+	2	1082	c.910_splice	c.e2+1	p.G304_splice	AVPR2_uc004fjg.4_Splice_Site_p.G93_splice|AVPR2_uc004fji.3_Frame_Shift_Del_p.L302fs	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	304					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGG	0.648