Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NID2_chr14_51999809_52074059	52035856	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01993.hp1 HG02074.hp2 others(2): Show HG01123.hp2 HG01993.hp1 HG02074.hp2 NA18969.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0090 a0002c0003t0001g0116 a0002c0004t0001g0019 others(2): Show a0002c0003t0001g0090 a0002c0003t0001g0116 a0002c0004t0001g0019 a0002c0004t0001g0148 a0002c0004t0001g0149	5	372	0.0134	20	c.225 others(39): Show c.2257+2871_2257+2890dupTATATATATATATATATATA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NID2_chr14_51999809_52074059	52065482	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0173 a0002c0004t0001g0173	1	372	0.0027	20	c.534 others(37): Show c.534+2356_534+2375dupTAAATAAATAAATAAATAAA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	2/21			chr14	TogoVar
NIFK_chr2_121721945_121741875	121739646	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGCGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG02257.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	2	400	0.0050	20	c.-27 others(31): Show c.-2797_-2796insACACACACGCACACACACAC	NIFK	ENSG00000155438.12	transcript	ENST00000285814.9	protein_coding		2772		chr2	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0043 a0001c0002t0014g0043	1	292	0.0034	20	c.-69 others(39): Show c.-695+5814_-695+5815insCTTCTTTCTTTCTTTCTTTC	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTTTCTCT others(13): Show CTTTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18939.hp1 NA18952.hp1 HG00438.hp2 NA18939.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0060 a0001c0002t0001g0075 a0001c0002t0001g0012 a0001c0002t0001g0060 a0001c0002t0001g0075	3	292	0.0103	20	c.-69 others(39): Show c.-695+5797_-695+5798insTTCTCTTTCTTTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTTTCTTT others(13): Show CTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02922.hp2 HG01993.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0183 a0001c0002t0001g0079 a0001c0001t0001g0183 a0001c0002t0001g0079	2	292	0.0069	20	c.-69 others(39): Show c.-695+5797_-695+5798insTTCTTTCTCTTTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	292	0.0034	20	c.-69 others(39): Show c.-695+5797_-695+5798insTTCTTTCTTTCTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43253212	A A	ATAATATA others(13): Show ATAATATAATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18981.hp2 NA18982.hp1 others(2): Show NA18612.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0272 a0001c0001t0002g0283 a0001c0001t0002g0284 others(2): Show a0001c0001t0002g0272 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0003t0002g0282 a0001c0003t0002g0287	5	292	0.0171	20	c.292 others(37): Show c.292+7146_292+7147insAATATAATATATGTGTGTGT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43255754	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	292	0.0034	20	c.292 others(37): Show c.292+9693_292+9712dupAAGAAAGAAAGAAAGAAAGA	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43257079	T T	TTGAAAAG others(13): Show TTGAAAAGGAGGCTAGGGAGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	292	0.0034	20	c.292 others(39): Show c.292+11032_292+11051dupGTGAAAAGGAGGCTAGGGAG	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43280716	G G	GCTCGATT others(13): Show GCTCGATTTTATAAGGCTAGA	stop_retained_variant stop_retained_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0161 a0008c0013t0001g0161	1	292	0.0034	20	c.131 others(27): Show c.1311_*1insGGCTAGACTCGATTTTATAA	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18986.hp1 HG06807.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0392 a0001c0001t0001g0300 a0001c0001t0001g0392	2	404	0.0050	20	c.33+ others(37): Show c.33+33431_33+33432insATATTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG04115.hp1 NA18944.hp1 others(3): Show HG01258.hp1 HG04115.hp1 NA18944.hp1 NA18957.hp1 NA18957.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0266 a0001c0001t0001g0295 a0001c0001t0001g0307 others(3): Show a0001c0001t0001g0266 a0001c0001t0001g0295 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0383 a0001c0001t0002g0179	6	404	0.0149	20	c.33+ others(37): Show c.33+33431_33+33432insATATATTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01071.hp2 others(4): Show HG00438.hp2 HG01070.hp2 HG01071.hp2 HG01433.hp1 HG03704.hp1 NA18963.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0002g0129	7	404	0.0173	20	c.33+ others(37): Show c.33+33431_33+33432insATATATATTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18941.hp2 NA19065.hp1 HG03130.hp2 NA18941.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0272 a0001c0001t0001g0323 a0001c0001t0001g0005 a0001c0001t0001g0272 a0001c0001t0001g0323	3	404	0.0074	20	c.33+ others(37): Show c.33+33431_33+33432insATATATATATATATTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	634265	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18967.hp2 HG02647.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0378 a0001c0001t0001g0334 a0001c0001t0001g0378	2	404	0.0050	20	c.33+ others(37): Show c.33+29043_33+29062dupAAAAAAAAAAAAAAAAAAAA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	648980	A A	ATCTATCT others(13): Show ATCTATCTATCTGTCTATCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 NA19043.hp2 HG01243.hp1 HG02647.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0325 a0001c0001t0001g0368 a0001c0001t0002g0264 a0001c0001t0001g0325 a0001c0001t0001g0368 a0001c0001t0002g0264	3	404	0.0074	20	c.33+ others(37): Show c.33+14347_33+14348insCAGATAGACAGATAGATAGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	648980	A A	ATCTATCT others(13): Show ATCTATCTGTCTATCTGTCTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02523.hp2 NA18944.hp1 others(10): Show HG00738.hp1 HG02523.hp2 NA18944.hp1 NA18947.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp2 NA18980.hp1 NA18994.hp2 NA19012.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0214 a0001c0001t0001g0277 a0001c0001t0001g0286 others(10): Show a0001c0001t0001g0214 a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0002g0059 a0001c0001t0002g0299 a0001c0001t0004g0275	13	404	0.0322	20	c.33+ others(37): Show c.33+14347_33+14348insCAGACAGATAGACAGATAGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	648984	A A	ATCTATCT others(13): Show ATCTATCTGTCTATCTGTCTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp2 HG01070.hp1 others(6): Show HG00621.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG02559.hp1 HG02630.hp2 HG03041.hp2 HG03540.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 a0001c0001t0001 a0001c0001t0002 a0004c0004t0002	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0395 others(6): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0395 a0001c0001t0001g0397 a0001c0001t0001g0401 a0001c0001t0002g0072 a0001c0001t0002g0386 a0001c0001t0002g0398 a0004c0004t0002g0100	9	404	0.0223	20	c.33+ others(37): Show c.33+14343_33+14344insCAGACAGATAGACAGATAGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	648984	A A	ATCTGTCT others(13): Show ATCTGTCTATCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	404	0.0025	20	c.33+ others(37): Show c.33+14343_33+14344insCAGACAGACAGATAGACAGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	648988	A A	ATCTGTCT others(13): Show ATCTGTCTATCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	404	0.0025	20	c.33+ others(37): Show c.33+14339_33+14340insCAGACAGACAGATAGACAGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp2 HG01168.hp2 others(24): Show HG00408.hp2 HG01081.hp2 HG01168.hp2 HG01261.hp1 HG02027.hp2 HG02129.hp2 HG02155.hp1 HG03540.hp1 HG03710.hp1 HG04115.hp2 NA18941.hp2 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18979.hp2 NA18986.hp1 NA18997.hp1 NA18998.hp1 NA19012.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0160 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0397 a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0002g0173 a0001c0001t0002g0296 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0002g0320	27	404	0.0668	20	c.33+ others(37): Show c.33+13777_33+13796dupTATATATATATATATATATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	404	0.0025	20	c.33+ others(37): Show c.33+13796_33+13797insTATATATATATATATATACA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	662409	C C	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	404	0.0025	20	c.33+ others(33): Show c.33+899_33+918dupTCTCTCTCTCTCTCTCTCTC	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINL_chr20_25447697_25590531	25473494	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG02970.hp1 others(2): Show HG01891.hp2 HG02647.hp1 HG02970.hp1 HG03927.hp1 NA18966.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0004c0005 a0018c0036 a0001c0001 a0004c0005 a0018c0036	a0001c0001t0003 a0004c0005t0001 a0018c0036t0003 a0001c0001t0003 a0004c0005t0001 a0018c0036t0003	a0001c0001t0003g0307 a0004c0005t0001g0202 a0004c0005t0001g0205 others(2): Show a0001c0001t0003g0307 a0004c0005t0001g0202 a0004c0005t0001g0205 a0004c0005t0001g0208 a0018c0036t0003g0279	5	310	0.0161	20	c.324 others(39): Show c.3248+2529_3248+2548dupTATTTTATTTTATTTTATTT	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	17/23			chr20	TogoVar
NIN_chr14_50714763_50836162	50806489	T T	TTATTGCC others(13): Show TTATTGCCACACCATCTGACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026	a0001c0002 a0001c0005 a0001c0006 others(58): Show a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0017 a0001c0018 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0047 a0001c0052 a0001c0054 a0001c0056 a0001c0060 a0002c0001 a0002c0013 a0002c0015 a0002c0043 a0002c0051 a0002c0058 a0002c0061 a0003c0003 a0003c0008 a0003c0016 a0003c0022 a0004c0004 a0004c0026 a0004c0039 a0004c0048 a0005c0007 a0005c0031 a0006c0009 a0006c0055 a0007c0010 a0007c0062 a0008c0020 a0008c0021 a0008c0036 a0009c0014 a0009c0053 a0010c0023 a0010c0035 a0011c0019 a0012c0024 a0013c0049 a0014c0050 a0015c0032 a0016c0041 a0017c0040 a0018c0038 a0019c0042 a0020c0046 a0021c0045 a0022c0044 a0023c0037 a0024c0057 a0025c0034 a0026c0033	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(84): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0016 a0001c0002t0023 a0001c0002t0024 a0001c0005t0001 a0001c0005t0004 a0001c0006t0003 a0001c0006t0014 a0001c0011t0001 a0001c0011t0006 a0001c0012t0001 a0001c0017t0002 a0001c0017t0003 a0001c0018t0001 a0001c0025t0011 a0001c0027t0012 a0001c0028t0003 a0001c0029t0001 a0001c0030t0004 a0001c0047t0003 a0001c0052t0005 a0001c0054t0006 a0001c0056t0001 a0001c0060t0003 a0002c0001t0002 a0002c0001t0008 a0002c0001t0015 a0002c0001t0019 a0002c0001t0020 a0002c0013t0004 a0002c0015t0002 a0002c0043t0002 a0002c0051t0002 a0002c0058t0002 a0002c0061t0002 a0003c0003t0001 a0003c0003t0010 a0003c0003t0013 a0003c0008t0002 a0003c0008t0007 a0003c0008t0008 a0003c0008t0018 a0003c0016t0001 a0003c0022t0001 a0003c0022t0010 a0004c0004t0001 a0004c0004t0022 a0004c0026t0001 a0004c0039t0001 a0004c0048t0001 a0005c0007t0001 a0005c0031t0001 a0006c0009t0004 a0006c0055t0004 a0007c0010t0002 a0007c0010t0006 a0007c0010t0009 a0007c0062t0006 a0008c0020t0003 a0008c0020t0007 a0008c0021t0001 a0008c0036t0007 a0009c0014t0005 a0009c0014t0017 a0009c0053t0005 a0010c0023t0002 a0010c0035t0002 a0011c0019t0001 a0012c0024t0003 a0013c0049t0001 a0014c0050t0002 a0015c0032t0006 a0016c0041t0002 a0017c0040t0003 a0018c0038t0002 a0019c0042t0001 a0020c0046t0001 a0021c0045t0002 a0022c0044t0002 a0023c0037t0026 a0024c0057t0021 a0025c0034t0025 a0026c0033t0011	a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0242 others(283): Show a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0242 a0001c0002t0002g0064 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0233 a0001c0002t0003g0002 a0001c0002t0003g0009 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0021 a0001c0002t0003g0034 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0070 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0078 a0001c0002t0003g0086 a0001c0002t0003g0090 a0001c0002t0003g0099 a0001c0002t0003g0102 a0001c0002t0003g0110 a0001c0002t0003g0131 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0183 a0001c0002t0003g0198 a0001c0002t0003g0211 a0001c0002t0003g0223 a0001c0002t0003g0225 a0001c0002t0003g0236 a0001c0002t0005g0004 a0001c0002t0005g0033 a0001c0002t0005g0084 a0001c0002t0005g0141 a0001c0002t0005g0142 a0001c0002t0009g0194 a0001c0002t0009g0197 a0001c0002t0016g0173 a0001c0002t0023g0246 a0001c0002t0024g0068 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0046 a0001c0005t0001g0072 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0147 a0001c0005t0001g0158 a0001c0005t0001g0170 a0001c0005t0001g0185 a0001c0005t0001g0241 a0001c0005t0001g0252 a0001c0005t0004g0263 a0001c0006t0003g0037 a0001c0006t0003g0060 a0001c0006t0003g0162 a0001c0006t0003g0179 a0001c0006t0003g0186 a0001c0006t0003g0187 a0001c0006t0003g0218 a0001c0006t0003g0271 a0001c0006t0003g0276 a0001c0006t0014g0006 a0001c0011t0001g0008 a0001c0011t0001g0011 a0001c0011t0001g0227 a0001c0011t0006g0076 a0001c0011t0006g0077 a0001c0012t0001g0039 a0001c0012t0001g0059 a0001c0012t0001g0061 a0001c0017t0002g0079 a0001c0017t0003g0115 a0001c0018t0001g0027 a0001c0018t0001g0230 a0001c0025t0011g0067 a0001c0025t0011g0135 a0001c0027t0012g0023 a0001c0027t0012g0287 a0001c0028t0003g0012 a0001c0028t0003g0101 a0001c0029t0001g0089 a0001c0029t0001g0196 a0001c0030t0004g0111 a0001c0030t0004g0274 a0001c0047t0003g0007 a0001c0052t0005g0285 a0001c0054t0006g0195 a0001c0056t0001g0143 a0001c0060t0003g0035 a0002c0001t0002g0028 a0002c0001t0002g0032 a0002c0001t0002g0057 a0002c0001t0002g0082 a0002c0001t0002g0088 a0002c0001t0002g0106 a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0113 a0002c0001t0002g0116 a0002c0001t0002g0117 a0002c0001t0002g0118 a0002c0001t0002g0120 a0002c0001t0002g0122 a0002c0001t0002g0123 a0002c0001t0002g0129 a0002c0001t0002g0132 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0153 a0002c0001t0002g0163 a0002c0001t0002g0165 a0002c0001t0002g0166 a0002c0001t0002g0168 a0002c0001t0002g0176 a0002c0001t0002g0178 a0002c0001t0002g0180 a0002c0001t0002g0184 a0002c0001t0002g0188 a0002c0001t0002g0189 a0002c0001t0002g0190 a0002c0001t0002g0200 a0002c0001t0002g0201 a0002c0001t0002g0204 a0002c0001t0002g0208 a0002c0001t0002g0212 a0002c0001t0002g0213 a0002c0001t0002g0214 a0002c0001t0002g0217 a0002c0001t0002g0219 a0002c0001t0002g0220 a0002c0001t0002g0229 a0002c0001t0002g0235 a0002c0001t0002g0240 a0002c0001t0002g0258 a0002c0001t0002g0270 a0002c0001t0002g0272 a0002c0001t0002g0278 a0002c0001t0008g0268 a0002c0001t0008g0277 a0002c0001t0015g0264 a0002c0001t0019g0234 a0002c0001t0020g0031 a0002c0013t0004g0065 a0002c0013t0004g0140 a0002c0013t0004g0193 a0002c0015t0002g0085 a0002c0015t0002g0174 a0002c0015t0002g0254 a0002c0043t0002g0247 a0002c0051t0002g0245 a0002c0058t0002g0024 a0002c0061t0002g0121 a0003c0003t0001g0005 a0003c0003t0001g0029 a0003c0003t0001g0038 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0054 a0003c0003t0001g0066 a0003c0003t0001g0091 a0003c0003t0001g0096 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0164 a0003c0003t0001g0181 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0199 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0260 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0010g0160 a0003c0003t0010g0259 a0003c0003t0013g0169 a0003c0003t0013g0243 a0003c0008t0002g0080 a0003c0008t0002g0104 a0003c0008t0002g0261 a0003c0008t0002g0262 a0003c0008t0002g0265 a0003c0008t0002g0266 a0003c0008t0007g0095 a0003c0008t0008g0267 a0003c0008t0018g0036 a0003c0016t0001g0003 a0003c0016t0001g0130 a0003c0022t0001g0210 a0003c0022t0010g0127 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0050 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0001g0055 a0004c0004t0001g0071 a0004c0004t0001g0087 a0004c0004t0001g0119 a0004c0004t0001g0126 a0004c0004t0001g0152 a0004c0004t0001g0155 a0004c0004t0001g0177 a0004c0004t0001g0182 a0004c0004t0001g0224 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0001g0239 a0004c0004t0001g0248 a0004c0004t0001g0273 a0004c0004t0022g0081 a0004c0026t0001g0053 a0004c0026t0001g0107 a0004c0039t0001g0146 a0004c0048t0001g0083 a0005c0007t0001g0044 a0005c0007t0001g0045 a0005c0007t0001g0058 a0005c0007t0001g0097 a0005c0007t0001g0098 a0005c0007t0001g0125 a0005c0007t0001g0154 a0005c0007t0001g0156 a0005c0007t0001g0231 a0005c0031t0001g0157 a0006c0009t0004g0025 a0006c0009t0004g0103 a0006c0009t0004g0136 a0006c0009t0004g0137 a0006c0009t0004g0138 a0006c0055t0004g0022 a0007c0010t0002g0161 a0007c0010t0006g0092 a0007c0010t0006g0093 a0007c0010t0006g0094 a0007c0010t0009g0139 a0007c0062t0006g0100 a0008c0020t0003g0232 a0008c0020t0007g0105 a0008c0021t0001g0010 a0008c0021t0001g0020 a0008c0036t0007g0069 a0009c0014t0005g0014 a0009c0014t0005g0015 a0009c0014t0017g0013 a0009c0053t0005g0016 a0010c0023t0002g0175 a0010c0023t0002g0253 a0010c0035t0002g0026 a0011c0019t0001g0209 a0011c0019t0001g0269 a0012c0024t0003g0001 a0013c0049t0001g0124 a0014c0050t0002g0244 a0015c0032t0006g0286 a0016c0041t0002g0114 a0017c0040t0003g0275 a0018c0038t0002g0167 a0019c0042t0001g0283 a0020c0046t0001g0112 a0021c0045t0002g0128 a0022c0044t0002g0159 a0023c0037t0026g0056 a0024c0057t0021g0030 a0025c0034t0025g0284 a0026c0033t0011g0049	291	292	0.9966	20	c.265 others(35): Show c.265+247_265+248insTGTCAGATGGTGTGGCAATA	NIN	ENSG00000100503.27	transcript	ENST00000530997.7	protein_coding	4/30			chr14	TogoVar
NIPA1_chr15_22781644_22834789	22807782	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(38): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00735.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp2 NA18947.hp1 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18972.hp2 NA18973.hp1 NA18982.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19054.hp1 NA19070.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 others(19): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0049 a0001c0002t0001 a0001c0002t0007 a0001c0002t0022 a0001c0002t0024 a0001c0002t0045 a0002c0003t0002 a0002c0003t0003 a0002c0003t0008 a0002c0003t0011 a0002c0003t0030 a0002c0003t0032 a0002c0004t0001 a0002c0004t0004 a0002c0004t0006 a0002c0004t0007 a0002c0004t0016 a0002c0004t0022 a0002c0005t0019	a0001c0001t0011g0292 a0001c0001t0011g0330 a0001c0001t0011g0334 others(38): Show a0001c0001t0011g0292 a0001c0001t0011g0330 a0001c0001t0011g0334 a0001c0001t0011g0335 a0001c0001t0011g0338 a0001c0001t0014g0176 a0001c0001t0020g0320 a0001c0001t0049g0319 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0329 a0001c0002t0007g0102 a0001c0002t0022g0324 a0001c0002t0024g0333 a0001c0002t0045g0105 a0002c0003t0002g0023 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0003t0003g0012 a0002c0003t0003g0019 a0002c0003t0003g0022 a0002c0003t0003g0225 a0002c0003t0008g0009 a0002c0003t0008g0014 a0002c0003t0008g0020 a0002c0003t0008g0021 a0002c0003t0011g0162 a0002c0003t0030g0010 a0002c0003t0032g0216 a0002c0004t0001g0016 a0002c0004t0001g0161 a0002c0004t0001g0179 a0002c0004t0001g0191 a0002c0004t0004g0198 a0002c0004t0006g0096 a0002c0004t0007g0166 a0002c0004t0016g0169 a0002c0004t0022g0326 a0002c0005t0019g0224 a0002c0005t0019g0233	41	400	0.1025	20	c.179 others(37): Show c.179-2964_179-2945dupTGTGTGTGTGTGTGTGTGTG	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
NIPA1_chr15_22781644_22834789	22807799	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp1 NA18522.hp2 others(1): Show HG02896.hp1 HG02922.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0002t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0013	a0001c0001t0014g0118 a0001c0002t0001g0119 a0001c0002t0013g0120 others(1): Show a0001c0001t0014g0118 a0001c0002t0001g0119 a0001c0002t0013g0120 a0001c0002t0013g0121	4	400	0.0100	20	c.179 others(37): Show c.179-2945_179-2944insTGTGTGTGTGTGTGAGTGTG	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
NIPAL2_chr8_98184826_98299235	98203846	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02818.hp2 HG02451.hp1 HG02572.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0109 a0001c0001t0003g0120 a0001c0001t0003g0016 a0001c0001t0003g0109 a0001c0001t0003g0120	3	332	0.0090	20	c.792 others(35): Show c.792-670_792-651dupCACACACACACACACACACA	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	7/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98259069	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	332	0.0030	20	c.136 others(37): Show c.136-4983_136-4982insAAAAAAAAAAAAAAAAAAAA	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATAGAGA others(13): Show TATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 homoSapiens_chm13v2.hp1 HG02451.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0160 a0001c0001t0004g0275 a0001c0001t0002g0160 a0001c0001t0004g0275	2	332	0.0060	20	c.135 others(39): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTCTAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	332	0.0030	20	c.135 others(39): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	332	0.0030	20	c.135 others(39): Show c.135+13241_135+13242insCTCTCTCTCTCTCTATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02300.hp2 HG03579.hp2 others(2): Show HG00408.hp2 HG02300.hp2 HG03579.hp2 HG06807.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0037 a0001c0001t0002g0164 a0001c0001t0002g0258 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0164 a0001c0001t0002g0258 a0001c0001t0004g0203 a0001c0002t0001g0080	5	332	0.0151	20	c.135 others(39): Show c.135+13241_135+13242insCTCTCTCTCTCTATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(13): Show TATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG02015.hp2 others(1): Show HG00323.hp1 HG00597.hp1 HG02015.hp2 HG02074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0004t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0001	a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0003g0152 others(1): Show a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0003g0152 a0002c0004t0001g0287	4	332	0.0121	20	c.135 others(39): Show c.135+13241_135+13242insCTCTCTCTCTATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(13): Show TATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03209.hp2 HG04228.hp2 HG01515.hp1 HG03209.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005	a0001c0001t0003g0234 a0001c0002t0001g0137 a0001c0002t0005g0079 a0001c0001t0003g0234 a0001c0002t0001g0137 a0001c0002t0005g0079	3	332	0.0090	20	c.135 others(39): Show c.135+13241_135+13242insCTCTCTCTATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL3_chr1_24410802_24477976	24428258	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02145.hp2 others(4): Show HG01257.hp2 HG01258.hp1 HG02145.hp2 HG02735.hp1 HG03490.hp2 NA19011.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006	a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0003g0014 others(3): Show a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0003g0014 a0001c0002t0006g0102 a0001c0002t0006g0103 a0001c0002t0006g0104	7	380	0.0184	20	c.93+ others(35): Show c.93+8644_93+8663dupGAGAGAGAGAGAGAGAGAGA	NIPAL3	ENSG00000001461.17	transcript	ENST00000374399.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(13): Show TGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0267 a0001c0020t0001g0267	1	328	0.0031	20	c.-79 others(37): Show c.-79-1564_-79-1563insTGTGTGTGCGCGCGCGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	328	0.0031	20	c.-79 others(37): Show c.-79-1564_-79-1563insTGTGTGTGTGTGCGCGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0311 a0002c0003t0001g0311	1	328	0.0031	20	c.-79 others(37): Show c.-79-1564_-79-1563insTGTGTGTGTGTGTGCGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01517.hp2 HG02486.hp1 HG00642.hp1 HG01517.hp2 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0138 a0002c0003t0001g0163 a0002c0003t0001g0244 a0002c0003t0001g0138 a0002c0003t0001g0163 a0002c0003t0001g0244	3	328	0.0092	20	c.-79 others(37): Show c.-79-1564_-79-1563insTGTGTGTGTGTGTGTGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKAIN1_chr1_31174745_31244887	31206237	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	338	0.0030	20	c.55- others(37): Show c.55-18051_55-18050insATTTATTTATTTATTTATTT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31216690	T T	TTTTATCT others(13): Show TTTTATCTATTTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	338	0.0030	20	c.54+ others(37): Show c.54+22803_54+22804insTAGATAGATAAATAGATAAA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31216690	T T	TTTTATCT others(13): Show TTTTATCTATTTATCTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(76): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18962.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0002c0004t0013 a0003c0003t0010	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0026 others(76): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0167 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0237 a0001c0001t0001g0260 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0117 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0189 a0001c0001t0002g0206 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0052 a0001c0001t0003g0091 a0001c0001t0003g0099 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0288 a0001c0001t0003g0304 a0001c0001t0003g0330 a0001c0001t0005g0004 a0001c0001t0014g0054 a0002c0004t0013g0205 a0003c0003t0010g0001	79	338	0.2337	20	c.54+ others(37): Show c.54+22803_54+22804insTAAATAGATAAATAGATAAA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31216692	T T	TTATCTAT others(13): Show TTATCTATTTATCTATTTATC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	338	0.0030	20	c.54+ others(37): Show c.54+22801_54+22802insGATAAATAGATAAATAGATA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31218016	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01433.hp2 others(7): Show HG01106.hp1 HG01168.hp1 HG01433.hp2 HG02523.hp2 NA18966.hp1 NA18978.hp2 NA19009.hp1 NA19062.hp1 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0002g0042 a0001c0001t0003g0023 a0001c0001t0003g0304 a0001c0001t0006g0239 a0001c0001t0011g0002	10	338	0.0296	20	c.54+ others(37): Show c.54+21458_54+21477dupGAAAGAAAGAAAGAAAGAAA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31225033	C C	CTTTTCTT others(13): Show CTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG04204.hp1 HG00741.hp2 HG01175.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0191	3	338	0.0089	20	c.54+ others(37): Show c.54+14460_54+14461insAAAAAAAAAAAAAAAGAAAA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232396	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp2 HG01943.hp1 others(5): Show HG01175.hp2 HG01496.hp2 HG01943.hp1 HG02602.hp2 NA18960.hp2 NA18986.hp1 NA19002.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0043 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0235 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0044	8	338	0.0237	20	c.54+ others(35): Show c.54+7078_54+7097dupATATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	338	0.0030	20	c.54+ others(35): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19058.hp2 NA19007.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0157 a0001c0001t0003g0322 a0001c0001t0002g0157 a0001c0001t0003g0322	2	338	0.0059	20	c.54+ others(35): Show c.54+7069_54+7070insCTCTCTCTCTCTCTATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar

Search by Variant

Search

Search Results