Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(208): Show TTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCT TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTC CCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	350	0.0029	215	c.485 others(232): Show c.485+4077_485+4078insTTCCTTCATTCCTTCCTTCCTTCCTTCC TTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(208): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	330	0.0030	215	c.124 others(230): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TATGGAAT others(208): Show TATGGAATACACATATGGAATACATATATATGGAATACATATATGGAATA CATATATATGGAATACATATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATGTGGAATACATATATGGAATATATATATATG TGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	215	c.-21 others(226): Show c.-2186_-2185insATGGAATACACATATGGAATACATATATATGGAA TACATATATGGAATACATATATATGGAATACATATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATGTGGAATACATATATG GAATATATATATATGTGGAATATATATATGG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2099		chr21	TogoVar
IGF1_chr12_102390874_102485563	102441940	C C	CTTCTTCT others(208): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0354 a0001c0001t0040g0354	1	360	0.0028	215	c.221 others(234): Show c.221-22251_221-22250insAGAAGAAGAAGAAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3						chr12	TogoVar
IGFN1_chr1_201185824_201233952	201209798	G G	GCAGGTTA others(208): Show GCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAATAGGTTCAGGAAG TAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAAGAAATGGGGTCAG TGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGT TCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAAT GGGGTCAGTGAATGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03098.hp2 HG03098.hp2	a0056 a0056	a0056c0143 a0056c0143	a0056c0143t0004 a0056c0143t0004	a0056c0143t0004g0139 a0056c0143t0004g0139	1	428	0.0023	215	c.490 others(224): Show c.4905_4906insCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAA TAGGTTCAGGAAGTAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAA GAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCC TAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGG GTTCTGGAGAAATGGGGTCAGTGAATGAA	p.Ala others(6): Show p.Ala1636fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5037/11811	4906/11127	1636/3708			chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(208): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGG AGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTC CTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGGG AGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19058.hp1 NA19058.hp1	a0093 a0093	a0093c0060 a0093c0060	a0093c0060t0003 a0093c0060t0003	a0093c0060t0003g0225 a0093c0060t0003g0225	1	428	0.0023	215	c.612 others(224): Show c.6123_6124insAAGGGAATGGGTTAGGCAGTAAGGCAAGTTTTAGGG ATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTAT AGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGG TTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGAGG CAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IPO7_chr11_9379652_9453127	9397329	A A	ACAAAAAA others(208): Show ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	314	0.0032	215	c.85- others(230): Show c.85-5961_85-5960insCAAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24						chr11	TogoVar
ISYNA1_chr19_18429388_18443133	18442176	C C	CCACACCC others(208): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACAACCCACACTGCACACCCCAACACACCA CACCCTCACACCACACACCAACACACACCACACACCAACACACACCACAC CCACACCACACATAAACCACACCCACACCCAACACACATACCACATCCAC ACATCCCAACACACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 NA18997.hp1 NA19080.hp2 HG01517.hp2 NA18997.hp1 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0025 a0001c0003t0001g0002 a0001c0003t0001g0025	3	308	0.0097	215	c.-40 others(226): Show c.-4094_-4093insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTG TGTGGTGTGTGTTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGC AGTGTGGGTTGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGT GTGGTGTGGGTGTGGTATGTGTTAGGGTGTG		ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding					4044		chr19	TogoVar
ISYNA1_chr19_18429388_18443133	18442180	A A	ACCCTAAC others(208): Show ACCCTAACACATACCACACCCACACCACACACCCACACACACCACACCCA CCCCAACACACACCACACAACCCACACTGCACACCCCAACACACCACACC CTCACACCACACACCAACACCACCACACACCAACAACACCACACCCCACA CCACACATAAACCACACCCACACCCAACACACATACCACATCCACACATC CCAACACACCACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	308	0.0033	215	c.-40 others(226): Show c.-4098_-4097insGTGTGTGGTGTGTTGGGATGTGTGGATGTGGTAT GTGTGTTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGGTGTGGTGTTGT TGGTGTGTGGTGGTGTTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGT GTGCAGTGTGGGTTGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGG GTGTGTGGTGTGGGTGTGGTATGTGTTAGGG		ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding					4048		chr19	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(208): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0066 a0001c0002t0007g0066	1	284	0.0035	215	c.670 others(230): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCC		JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCMF1_chr2_84966161_85064472	85008354	A A	AATATATA others(208): Show AATATATAATATGATATATAATATATATCATATATAATATATCATATGAT ATATAATATATATCATATATAATATATAATGATATATATTATATATGATA TATATTATATATCATATGATATATTATATATGATATATAATATATATCAT ATATAATATATCATATGATATATAATATATATCATATATAATATATAATG ATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0075 a0001c0001t0002g0080	2	274	0.0073	215	c.17- others(232): Show c.17-19528_17-19527insATATGATATATAATATATATCATATATA ATATATCATATGATATATAATATATATCATATATAATATATAATGATATA TATTATATATGATATATATTATATATCATATGATATATTATATATGATAT ATAATATATATCATATATAATATATCATATGATATATAATATATATCATA TATAATATATAATGATATATATTATATATGATATATA		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	85008354	A A	ATCATATA others(208): Show ATCATATATAATATATAATATGATATATAATATATATCATATATAATATA TAATATGATATATAATATATATCATATATAATATATATGATATATAATAT ATATCATATATAATATATATGATATATAATATATATCATATATAATATAT ATCATATATAATATGACATATATTATATATGATATATATTATATATCATA TTATATATTATATATG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	274	0.0037	215	c.17- others(232): Show c.17-19535_17-19534insTCATATATAATATATAATATGATATATA ATATATATCATATATAATATATAATATGATATATAATATATATCATATAT AATATATATGATATATAATATATATCATATATAATATATATGATATATAA TATATATCATATATAATATATATCATATATAATATGACATATATTATATA TGATATATATTATATATCATATTATATATTATATATG		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6						chr2	TogoVar
KIF17_chr1_20659014_20723007	20712738	A A	AATATAGA others(208): Show AATATAGATAATATCTATATATATAATATAGATAATATCTATATATATAA TATAGATAATATCTATATATATAATATAGATAATATTATCTATATATAAA ATTATATTATATCTATATATAATATAGATAATATTATCTATATATAATAT AGATAATATTATCTATATATATAATATAGATAATATTATCTATATATATA ATATAGATAATATTAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG04184.hp2 HG01074.hp1 HG01516.hp1 HG04184.hp2	a0001 a0021 a0032 a0001 a0021 a0032	a0001c0128 a0021c0130 a0032c0129 a0001c0128 a0021c0130 a0032c0129	a0001c0128t0001 a0021c0130t0001 a0032c0129t0001 a0001c0128t0001 a0021c0130t0001 a0032c0129t0001	a0001c0128t0001g0028 a0021c0130t0001g0030 a0032c0129t0001g0029 a0001c0128t0001g0028 a0021c0130t0001g0030 a0032c0129t0001g0029	3	414	0.0073	215	c.480 others(230): Show c.480+715_480+716insATAATATTATCTATATTATATATATAGATA ATATTATCTATATTATATATATAGATAATATTATCTATATTATATATAGA TAATATTATCTATATTATATATAGATATAATATAATTTTATATATAGATA ATATTATCTATATTATATATATAGATATTATCTATATTATATATATAGAT ATTATCTATATTATATATATAGATATTATCTATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF25_chr6_167992671_168050091	167997286	G G	GGGTCGGG others(208): Show GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGG CGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	375	0.0027	215	c.-21 others(226): Show c.-2183_-2182insGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATA		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					384		chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87726258	G G	GCCCGTCT others(208): Show GCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGC CCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCC GTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGT CTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCT CCCCACGCCGCGCCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02155.hp1 HG03490.hp2 others(6): Show HG00733.hp2 HG02155.hp1 HG03490.hp2 NA18747.hp1 NA18967.hp2 NA18968.hp2 NA18989.hp1 NA19067.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0219 a0001c0001t0001g0369	9	380	0.0237	215	c.759 others(230): Show c.759+506_759+507insGAGGCGCGGCGTGGGGAGACGGGCGAGGCG CGGGGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCG GGGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGC GTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGGGT GGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11						chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726258	G G	GCCCGTCT others(208): Show GCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGC CCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCC GTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGT CTCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCT CCCCACGCCGCGCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20752.hp1 HG03654.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0237 a0001c0001t0001g0143 a0001c0001t0001g0237	2	380	0.0053	215	c.759 others(230): Show c.759+506_759+507insGAGGCGCGGCGTGGGGAGACGGGCGAGGCG CGGCGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCG GGGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGC GTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGGGT GGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11						chr16	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATGTGTAT others(208): Show ATGTGTATATATATATATATATATATATATATATATATATATGTGTATAT ATATATATATATATATATATATATATATGTGTATATATATATATATATAT ATATATATACACATATACATATATATATATATACACACACATATACATAT ATATATATATATACACACACATATATATATATATATATATATATATATAT ATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	300	0.0033	215	c.218 others(230): Show c.218+246_218+247insGTGTATATATATATATATATATATATATAT ATATATATATGTGTATATATATATATATATATATATATATATATATGTGT ATATATATATATATATATATATATATACACATATACATATATATATATAT ACACACACATATACATATATATATATATATACACACACATATATATATAT ATATATATATATATATATATATATATATATGTATT		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
LHFPL3_chr7_104323603_104913561	104833036	T T	TATATAAT others(208): Show TATATAATATATATAATAGATATATTATAGATATATTATATATAATAGAT ATATTATATATATTATATATAATAGATATATTATATATATATTATATATA ATAGATATATTATATATATTATATATAATAGATATATTATATATATTATA TATAATAGATATATTATATATATATTATATATAATAGATATATTATATAT ATATTATATATAATAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0063 a0001c0001t0011g0063	1	86	0.0116	215	c.683 others(234): Show c.683-73146_683-73145insATATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATTATATATAATAGATATATTATATATATATTATATAT AATAGATATATTATATATATATTATATATAATAGATATA		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(208): Show ATATATTATATATTATATATAATATATATTATATATTTTATATATTTTAT ATATATAATATATATTATATATTTTATATATATAAAATATATAATATATA ATATATATTATATATATAAAATATATAATATATATTATATATTTTATATA TATAAAATATATAATATATATTATATATTTTATATATATAAAATATATAA TATATATTATATATTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	278	0.0036	215	c.199 others(232): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATTTTATATATATAATATATATTATATATTTTATATATATA AAATATATAATATATAATATATATTATATATATAAAATATATAATATATA TTATATATTTTATATATATAAAATATATAATATATATTATATATTTTATA TATATAAAATATATAATATATATTATATATTTTATAT		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
LUC7L_chr16_183990_234449	186748	G G	GGAGGAAC others(208): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGG AACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	350	0.0029	215	c.24 others(226): Show c.2449_*2450insTCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCTCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2241		chr16	TogoVar
MAEA_chr4_1284891_1345137	1316913	C C	CAGACTCA others(208): Show CAGACTCACCCCCAGGCCCACCCGGCCCCACACTCCAGACTCACCTGCAG GCCCACCACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCGGCCCC ACACTCCAGACTCACCTGCAGGCCCACCACGGCCCCACACTCTAGACTCA CCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCCCAC CACGGCCCCACACTCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	388	0.0026	215	c.456 others(232): Show c.456+1406_456+1407insGGCCCCACACTCCAGACTCACCTGCAGG CCCACCACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCTGGCCCC CACACTCCAGACTCACCTGCAGGCCCACCACGGCCCCACACTCTAGACTC ACCCCCAGGCCCACCCGGCCCCACACTCCAGACTCACCTGCAGGCCCACC ACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(208): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG00741.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0061 a0001c0001t0001g0094	2	181	0.0111	215	c.107 others(234): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237545024	T T	TGGGGACA others(208): Show TGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGTGG TTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGAGGACAGTGGTGAGTTGGGGGACAGTGGTGAATG GGCACGGTAGTGAGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0115 a0006c0006t0001g0115	1	286	0.0035	215	c.154 others(234): Show c.1540-1578_1540-1577insACAGTGGTGAGTGGGGGGGACAGTGG TGAGTGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGT TGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTGGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP26_chr11_4699784_4997429	4734759	T T	CTATATAA others(208): Show CTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATATTTATATA AGCAGGGCATAGGCAGAATAGCATCGCATAGCATATTTATATAAGCAGGG CATAGGCAGAATAGCATCGCATAGCATATTTATATAAGCAGGGCATAGGC AGAATAGCATCGCATAGCATATTTATATAAGCAGGGCATAGGCAGAATAG CATCGCATAGCATATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp1 others(1): Show HG00140.hp1 HG00639.hp1 HG00738.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118	4	206	0.0194	215	c.-21 others(236): Show c.-217+29713_-217+29714insCTATATAAGCAGGGCATAGGCAGA ATAGCATCGCATAGCATATTTATATAAGCAGGGCATAGGCAGAATAGCAT CGCATAGCATATTTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAG CATATTTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATATTT ATATAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATAT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7						chr11	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTT others(208): Show TGTGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGC AGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAA TTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0129 a0001c0003t0017g0129	1	422	0.0024	215	c.670 others(230): Show c.670+788_670+789insTGTGTTTTCTGAGCCAGGGTCTCTTTCTGT TGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTG CCTCCCGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATA TTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAGG		MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
MSLN_chr16_755734_773862	767548	G G	GGGGGGGC others(208): Show GGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGGCG CGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGT GGAGGGGGTGCGTGGAGGAGGGGCGCGTGGGGGGGGGCGCGTGGAGGGGG GCGCGTGGAGGAGGGGCGCGTGGAGGAAGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0226 a0003c0004t0003g0226	1	388	0.0026	215	c.159 others(230): Show c.1596+83_1596+84insGCGAGTGGAGGAGCCCCGGTGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGAGCGG GAGGAGGGGCGCGTGGAGGGGGTGCGTGGAGGAGGGGCGCGTGGGGGGGG GCGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAAGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663531	C C	CACAGCCT others(208): Show CACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACAGCCTCCA ACCTGTGCACTCTCCACCCACCCCATCCTCATTCTACACAGCCTCCAATC TATCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTC CCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCC ACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	410	0.0024	215	c.287 others(232): Show c.287+1344_287+1345insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGATAGATTGGAGGCTG TGTAGAATGAGGATGGGGTGGGTGGAGAGTGCACAGGTTGGAGGCTGTAG AATGAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGT		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5						chr19	TogoVar
NCAM2_chr21_20993409_21548329	21265015	T T	TTATATAT others(208): Show TTATATATGTGTATGTGTATATATACACATATATATTATATATGTGTATG TGTATATATATACACATATATATTATATATGTGTATGTGTATATATATAC ACATATATATTATATATGTGTATATGTATATATACACATATATATTATAT ATATATGTGTCTGTATATATATACACATATATATTATATATATGTGTCTG TGTATATATATACACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02630.hp1 HG02895.hp2 others(1): Show HG01361.hp2 HG02630.hp1 HG02895.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0010	a0001c0001t0024 a0001c0007t0004 a0002c0002t0001 others(1): Show a0001c0001t0024 a0001c0007t0004 a0002c0002t0001 a0002c0010t0013	a0001c0001t0024g0132 a0001c0007t0004g0005 a0002c0002t0001g0111 others(1): Show a0001c0001t0024g0132 a0001c0007t0004g0005 a0002c0002t0001g0111 a0002c0010t0013g0011	4	132	0.0303	215	c.56- others(232): Show c.56-15552_56-15551insATGTGTATATATACACATATATATTATA TATGTGTATGTGTATATATATACACATATATATTATATATGTGTATGTGT ATATATATACACATATATATTATATATGTGTATATGTATATATACACATA TATATTATATATATATGTGTCTGTATATATATACACATATATATTATATA TATGTGTCTGTGTATATATATACACATATATATGTGT		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21265015	T T	TTATATAT others(208): Show TTATATATGTGTATGTGTATATATACACATATATATTATATATGTGTATG TGTATATATATACACATATATATTATATATGTGTATGTGTATATATATAC ACATATATATTATATATGTGTATGTGTATATATACACATATATATTATAT ATATATGTGTCTGTATATATATACACATATATATTATATATATGTGTCTG TGTATATATATACACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0027 a0002c0003t0012g0027	1	132	0.0076	215	c.56- others(232): Show c.56-15552_56-15551insATGTGTATATATACACATATATATTATA TATGTGTATGTGTATATATATACACATATATATTATATATGTGTATGTGT ATATATATACACATATATATTATATATGTGTATGTGTATATATACACATA TATATTATATATATATGTGTCTGTATATATATACACATATATATTATATA TATGTGTCTGTGTATATATATACACATATATATGTGT		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCGCCT others(208): Show GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCT CCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCC TCCACCCTCTTACCCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0331 a0003c0006t0001g0331	1	378	0.0027	215	c.148 others(234): Show c.1480-2580_1480-2579insTGGGTAAGAGGGTGGAGGGCCACAGG GTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NEU4_chr2_241804193_241822413	241815394	G G	GCAAATCC others(208): Show GCAAATCCCTCTCCCCAGGACCGTCCTGCACCTCCCGTCCCAGACAAATC CCTCTCCCCAGGACCGTCCTGAGCCTCCCGTCCCAGACAAATCCCTCTCC CCAGGACCGTCCTGAGCCTCCCGTCCCAGACAAATCCCTCTCCCCAGGAC CGTCCTGCACCTCCCGTCCCAGACAAATCCCTCTCCCCAGGACCGTCCTG AGCCTCCCGTCCCAGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19010.hp2 NA18966.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0171 a0001c0001t0001g0124 a0001c0001t0001g0171	2	319	0.0063	215	c.457 others(230): Show c.457+289_457+290insACAAATCCCTCTCCCCAGGACCGTCCTGAG CCTCCCGTCCCAGACAAATCCCTCTCCCCAGGACCGTCCTGAGCCTCCCG TCCCAGACAAATCCCTCTCCCCAGGACCGTCCTGCACCTCCCGTCCCAGA CAAATCCCTCTCCCCAGGACCGTCCTGAGCCTCCCGTCCCAGACAAATCC CTCTCCCCAGGACCGTCCTGCACCTCCCGTCCCAG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(208): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCCCCGAC CTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCCCCCTCCC CGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGACCTCCCCC CGCCCCCCTCCCCCGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01192.hp2 others(1): Show HG00639.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp2	a0002 a0002	a0002c0003 a0002c0011 a0002c0026 others(1): Show a0002c0003 a0002c0011 a0002c0026 a0002c0059	a0002c0003t0001 a0002c0011t0001 a0002c0026t0001 others(1): Show a0002c0003t0001 a0002c0011t0001 a0002c0026t0001 a0002c0059t0022	a0002c0003t0001g0222 a0002c0011t0001g0228 a0002c0026t0001g0230 others(1): Show a0002c0003t0001g0222 a0002c0011t0001g0228 a0002c0026t0001g0230 a0002c0059t0022g0229	4	322	0.0124	215	c.127 others(232): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCC CTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCC CCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCC GCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(208): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTCA CCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCAC CCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCCCACCCTC ACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	316	0.0032	215	c.133 others(236): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGG GGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGGGTGAGGGTGGGGTG GGGGTGAGGGTGAGGGTGGGGTGAGGGTGGGGGTAGTGGGGGTGAGGGTG GGGTGGGGGTGAGGGTGGGGGTGGGGTGAGGGTGAGGGTGGGGTGGGGGT GAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10						chr20	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(208): Show AAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	208	0.0048	215	c.-10 others(236): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTT		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32						chr7	TogoVar
NTM_chr11_131365615_132341822	131956728	G G	GGTAGCTT others(208): Show GGTAGCTTGCCAGGGGAAACTGGGTGTGAGTCAATGGCCTTCCTCTTCAC TCTATGGTCAGCCTCTGTTTTTGTGGGACAGCATCAGCCTGAAGCCAGGC AAAAGGCCCAAGTCATGTAGTAAAAAGTGTGCAGGGCTCAGGACTGGAAG CAAAACTCTCCACCAACCAGCTTGGTGCTATTAATCAGATACTGTAACTG CTATTAATCAGATACT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0015	1	86	0.0116	215	c.167 others(234): Show c.167+45280_167+45281insTATTAATCAGATACTGTAGCTTGCCA GGGGAAACTGGGTGTGAGTCAATGGCCTTCCTCTTCACTCTATGGTCAGC CTCTGTTTTTGTGGGACAGCATCAGCCTGAAGCCAGGCAAAAGGCCCAAG TCATGTAGTAAAAAGTGTGCAGGGCTCAGGACTGGAAGCAAAACTCTCCA CCAACCAGCTTGGTGCTATTAATCAGATACTGTAACTGC		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(208): Show ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATAAAA TATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	378	0.0027	215	c.489 others(232): Show c.489+2834_489+2835insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATA AAATATATAGTTATGTAACTATAAAATATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1S2_chr11_58198204_58209142	58199861	T T	TGAAAATG others(208): Show TGAAAATGGCAAATTGTTAAAAAATCAAATGATTTTTTAACAAGTGCAGA AACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTA GAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGA AGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCAAAAA AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0000 a0009c0010t0001g0000	1	426	0.0024	215	c.33 others(226): Show c.3342_*3343insTTTTTTTTTTTTTTTTTTTTTGACAATAAAGTTT TCATTGTGATCACACTACAGAAAAAAATACCTTCTGTTCTTTGCAAAAAA TGTGCGAAGGCCAAATCTGTGTTTTTCTTTTCTAAAAAAAAGGATGTTGC ATGAGTTACAATGCAACCAGTATCTTTTTGTTTCTGCACTTGTTAAAAAA TCATTTGATTTTTTAACAATTTGCCATTTTC		OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding					3342		chr11	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(208): Show ATATATTATATATATTATATATATTATATATATTATATATATTATATATA TATATTATATATATAATATATATAATATATATAATATAATATATTTTATA TATATATAATATATTATATAATATAATATATATATTATATATATAATATA TATATAATATAATATAATATAATATATTATATTATATAATATATGATATA AATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19043.hp2 HG01891.hp2 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0018 a0003c0004t0003g0018	2	215	0.0093	215	c.9+6 others(226): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATTATA TATATTATATATATATATTATATATATAATATATATAATATATATAATAT AATATATTTTATATATATATAATATATTATATAATATAATATATATATTA TATATATAATATATATATAATATAATATAATATAATATATTATATTATAT AATATATGATATAAATATAATATATATTTTA		OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(208): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0133 a0001c0004t0007g0133	1	308	0.0033	215	c.226 others(234): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCCTCCTCCCCCCTCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCA CTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD3_chr10_34104561_34820296	34605543	A A	ATATATAT others(208): Show ATATATATCTCCTATATATATATATATATATCTCCTATATATATATATCT CCTATATATATATATCTCCTATATATATATCTCCTATATATATATATCTC CTATATATATATCTCCTATATATATATATATCTCCTATATATATATCTCC TATATATATATCTCCTATATATATATATATCTCCTATATATATATATCTC CTATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0075	1	100	0.0100	215	c.223 others(234): Show c.223-88385_223-88384insGGAGATATATATATAGGAGATATATA TATATAGGAGATATATATATATATAGGAGATATATATATAGGAGATATAT ATATAGGAGATATATATATATATAGGAGATATATATATAGGAGATATATA TATATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATAT ATATAGGAGATATATATATATATATATAGGAGATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARVB_chr22_44019302_44177939	44019386	A A	ATTTTTGT others(208): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	332	0.0030	215	c.-49 others(226): Show c.-4954_-4953insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAAT		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding					4915		chr22	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0236 a0003c0004t0001g0236	1	268	0.0037	215	c.242 others(236): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	272	0.0037	215	c.242 others(236): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0030 a0003c0003t0001g0030	1	270	0.0037	215	c.242 others(236): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	274	0.0037	215	c.251 others(236): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	292	0.0034	215	c.242 others(236): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	292	0.0034	215	c.242 others(236): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	292	0.0034	215	c.242 others(236): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	302	0.0033	215	c.242 others(236): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0282 a0001c0005t0001g0282	1	302	0.0033	215	c.242 others(234): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results