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

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(164): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(11): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00738.hp1 HG01255.hp1 HG02080.hp2 HG02698.hp1 HG03834.hp2 HG04228.hp2 NA18951.hp1 NA18960.hp1 NA18970.hp2 NA19072.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0043 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0153 a0001c0001t0001g0154	14	410	0.0342	171	c.125 others(186): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTTTATATAT AAAATATATATAATATATATTTTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(164): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAT AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02300.hp2 HG03831.hp2 others(4): Show HG01928.hp2 HG02300.hp2 HG03831.hp2 NA18942.hp1 NA18946.hp1 NA18968.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0104 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0142	7	410	0.0171	171	c.125 others(186): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTTTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(164): Show TTATATATATTTTATATATATAATATATATTATATATATTTTATATATAT AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp2 HG01169.hp1 others(3): Show HG00438.hp1 HG01168.hp2 HG01169.hp1 HG03017.hp1 HG03710.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0094 a0001c0001t0001g0137	6	410	0.0146	171	c.125 others(186): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTATATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF516_chr18_76352682_76500242	76357346	C C	CCCCAGCG others(164): Show CCCCAGCGCAGAGTGGCGCACCCAGCGCAGAGTGGCGCACCCAGCGCAGA GTGGCGCACCCAGCGCAGAGTGGCGTCCCCAGCGCAGAGTGGCGCACCCA GCGCAGAGTGGCGCACCCAGCGCAGAGTGGCGCACCCAGCGCAGAGTGGC GCACCCAGCGCAGAGTGGCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0020 a0020	a0020c0056 a0020c0056	a0020c0056t0130 a0020c0056t0130	a0020c0056t0130g0068 a0020c0056t0130g0068	1	346	0.0029	171	c.51 others(182): Show c.5151_*5152insTGCGCCACTCTGCGCTGGGTGCGCCACTCTGCGC TGGGTGCGCCACTCTGCGCTGGGTGCGCCACTCTGCGCTGGGTGCGCCAC TCTGCGCTGGGGACGCCACTCTGCGCTGGGTGCGCCACTCTGCGCTGGGT GCGCCACTCTGCGCTGGGTGCGCCACTCTGCGCTGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding		335		chr18	TogoVar
ZNF652_chr17_49284206_49367250	49320942	T T	TGGGTTCA others(164): Show TGGGTTCAAGCAATTCTCCTGTCTCAGCCTCTGGAGTAGCTGGGGCCATA GGTGCATACCACCATGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTTGAG ACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGG CTCACTGCAAACTCCGCCTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0197 a0001c0001t0012g0197	1	382	0.0026	171	c.-25 others(190): Show c.-258-2960_-258-2959insGGGAGGCGGAGTTTGCAGTGAGCCAA GATTGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCA AAAAAAAAAAAAAAAAAAAAAAGAGCTGGGCATGGTGGTATGCACCTATG GCCCCAGCTACTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCC	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	1/5			chr17	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATCCTTCC others(164): Show ATCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	394	0.0025	171	c.-31 others(182): Show c.-3153_-3152insGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTATATAT others(164): Show TTATATATATATAAATATATATATATTTATATATATAAATATATATATTT ATATATATATAAATATATATATATTTATATATATAAATATATATTTATAT ATAAATATATATTTATATATATATAAATATATTTTATATATAAATATATA TATATTTATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02258.hp1 others(11): Show HG01109.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02965.hp1 HG03041.hp1 HG03516.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0020 others(6): Show a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0066 a0002c0002t0002g0097 a0002c0002t0002g0101 a0002c0002t0002g0106 a0002c0002t0006g0018 a0002c0002t0006g0099	14	400	0.0350	171	c.532 others(186): Show c.532+446_532+447insTATTTATATATATATAAATATATATATATT TATATATAAAATATATTTATATATATATAAATATATATTTATATATAAAT ATATATTTATATATATAAATATATATATATTTATATATATATAAATATAT ATATTTATATATATAAATATATATATATTTATATATATATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235086	A A	ACCTCTGA others(164): Show ACCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGG TGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCA CTCCAACCTCTGATGGACGGTGGGCCAAGCACTCCAGCCTCTGATGGACG GTGGGCCAAGCCTCCACTCCAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	362	0.0028	171	c.-12 others(190): Show c.-127-9914_-127-9913insCTGGAGTGGAGGCTTGGCCCACCGTC CATCAGAGGCTGGAGTGCTTGGCCCACCGTCCATCAGAGGTTGGAGTGGA GGCTTGGCCCACCATCCATCAGAGGCTGGAGTGGAGACTTGGCCCACCGT CCATCAGAGGCTGGAGTGGAGACTTGGCCCACCGTCCATCAGAGG	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
AADAC_chr3_151809116_151833488	151820690	T T	TTTTTTTT others(165): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp1 others(164): Show HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18942.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0008 a0001c0001 a0001c0004 a0005c0008	a0001c0001t0002 a0001c0004t0002 a0005c0008t0002 a0001c0001t0002 a0001c0004t0002 a0005c0008t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(43): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0004t0002g0002 a0001c0004t0002g0068 a0005c0008t0002g0002	167	440	0.3796	172	c.431 others(187): Show c.431+239_431+240insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
AADAC_chr3_151809116_151833488	151820690	T T	TTTTTTTT others(165): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	440	0.0023	172	c.431 others(187): Show c.431+239_431+240insTTTTTTTTTTTTTTGAGACGGAGTCTGGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATACACAC others(165): Show ATACACACACATATGTGTATATACACATATACACACATATGTGTATATAC ACATATACACACATATGTGTATATACACATATACACACATATGTGTATAT ACACATATACACACATATGTGTATATACACATATACACACACATATGTGT ATATACACATATACACACATGTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp1 NA18942.hp2 others(7): Show HG03669.hp2 HG03688.hp1 NA18942.hp2 NA18955.hp1 NA18970.hp1 NA18981.hp1 NA19004.hp2 NA19054.hp2 NA19065.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0221 a0001c0001t0001g0265 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0221 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0306	10	336	0.0298	172	c.209 others(191): Show c.2094+1383_2094+1384insCACACACATATGTGTATATACACATA TACACACATATGTGTATATACACATATACACACATATGTGTATATACACA TATACACACATATGTGTATATACACATATACACACATATGTGTATATACA CATATACACACACATATGTGTATATACACATATACACACATGTGTA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATACACAC others(165): Show ATACACACACATATGTGTATATACACATATACACACATATGTGTATATAC ACATATACACACATATGTGTATATACACATATACACACATATGTGTATAT ACACATATACACACATATGTGTATATACACATATACACACATGTGTATAT ACACATATACACACACATATGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	336	0.0030	172	c.209 others(191): Show c.2094+1383_2094+1384insCACACACATATGTGTATATACACATA TACACACATATGTGTATATACACATATACACACATATGTGTATATACACA TATACACACATATGTGTATATACACATATACACACATATGTGTATATACA CATATACACACATGTGTATATACACATATACACACACATATGTGTA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC6_chr16_16144565_16228494	16168218	G G	GTGGTGGC others(165): Show GTGGTGGCTCATGCCTGTGATCCCAACACTTTGGGAGGTTGAGGCGGAGG ATTGCCTGAGCCCAGGAGTTTGAGACCAGGCCGGGCCTGGTGGCTCATGC CTGTGATCCCAACACTTTGGGAGGTTGAGGCGGAGGATTGCCTGAGCCCA GGAGTTTGAGACCAGGCCGGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02818.hp2 others(3): Show HG00639.hp2 HG02109.hp1 HG02818.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0031 others(1): Show a0001 a0002 a0031 a0032	a0001c0001 a0001c0049 a0002c0068 others(2): Show a0001c0001 a0001c0049 a0002c0068 a0031c0060 a0032c0059	a0001c0001t0001 a0001c0049t0001 a0002c0068t0001 others(2): Show a0001c0001t0001 a0001c0049t0001 a0002c0068t0001 a0031c0060t0010 a0032c0059t0001	a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 others(3): Show a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 a0002c0068t0001g0097 a0031c0060t0010g0240 a0032c0059t0001g0009	6	357	0.0168	172	c.299 others(191): Show c.2995+1427_2995+1428insGGCCCGGCCTGGTCTCAAACTCCTGG GCTCAGGCAATCCTCCGCCTCAACCTCCCAAAGTGTTGGGATCACAGGCA TGAGCCACCAGGCCCGGCCTGGTCTCAAACTCCTGGGCTCAGGCAATCCT CCGCCTCAACCTCCCAAAGTGTTGGGATCACAGGCATGAGCCACCA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	22/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16168218	G G	GTGGTGGC others(165): Show GTGGTGGCTCATGCCTGTGATCCCAACACTTTGGGAGTTTGAGGCGGAGG ATTGCCTGAGCCCAGGAGTTTGAGACCAGGCCGGGCCTGGTGGCTCATGC CTGTGATCCCAACACTTTGGGAGGTTGAGGCGGAGGATTGCCTGAGCCCA GGAGTTTGAGACCAGGCCGGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(78): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18963.hp2 NA18964.hp1 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA20805.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0016 a0020 a0025 a0036	a0001c0001 a0001c0004 a0001c0006 others(11): Show a0001c0001 a0001c0004 a0001c0006 a0001c0023 a0001c0043 a0001c0052 a0001c0064 a0001c0067 a0004c0010 a0005c0031 a0016c0036 a0020c0032 a0025c0053 a0036c0066	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0006t0001 a0001c0006t0009 a0001c0023t0001 a0001c0043t0001 a0001c0052t0001 a0001c0064t0005 a0001c0067t0001 a0004c0010t0001 a0005c0031t0001 a0016c0036t0001 a0020c0032t0001 a0025c0053t0001 a0036c0066t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(78): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0004g0155 a0001c0001t0004g0223 a0001c0001t0005g0206 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0104 a0001c0004t0001g0109 a0001c0004t0001g0162 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0212 a0001c0006t0001g0189 a0001c0006t0001g0277 a0001c0006t0001g0278 a0001c0006t0001g0286 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0006t0001g0330 a0001c0006t0009g0285 a0001c0023t0001g0066 a0001c0023t0001g0100 a0001c0043t0001g0236 a0001c0052t0001g0283 a0001c0064t0005g0324 a0001c0067t0001g0351 a0004c0010t0001g0342 a0005c0031t0001g0132 a0016c0036t0001g0343 a0020c0032t0001g0051 a0020c0032t0001g0149 a0025c0053t0001g0153 a0036c0066t0001g0052	81	357	0.2269	172	c.299 others(191): Show c.2995+1427_2995+1428insGGCCCGGCCTGGTCTCAAACTCCTGG GCTCAGGCAATCCTCCGCCTCAACCTCCCAAAGTGTTGGGATCACAGGCA TGAGCCACCAGGCCCGGCCTGGTCTCAAACTCCTGGGCTCAGGCAATCCT CCGCCTCAAACTCCCAAAGTGTTGGGATCACAGGCATGAGCCACCA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	22/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16168218	G G	GTGGTGGC others(165): Show GTGGTGGCTCATGCCTGTGATCCCAACACTTTGGGAGTTTGAGGCGGAGG ATTGCCTGAGCCCAGGAGTTTGAGACCAGGCCGGGCCTGGTGGCTCATGC CTGTGATTCCAACACTTTGGGAGGTTGAGGCGGAGGATTGCCTGAGCCCA GGAGTTTGAGACCAGGCCGGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG03831.hp1 others(15): Show HG00558.hp2 HG00673.hp1 HG03831.hp1 HG04204.hp2 NA18612.hp2 NA18944.hp1 NA18952.hp2 NA18968.hp1 NA18969.hp1 NA18977.hp1 NA18978.hp2 NA18993.hp1 NA19002.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA20905.hp1	a0001 a0016 a0035 a0001 a0016 a0035	a0001c0001 a0001c0006 a0001c0033 others(2): Show a0001c0001 a0001c0006 a0001c0033 a0016c0036 a0035c0062	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0033t0001 a0016c0036t0001 a0035c0062t0001	a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 others(15): Show a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0191 a0001c0001t0001g0234 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0308 a0001c0001t0001g0334 a0001c0001t0004g0071 a0001c0001t0004g0181 a0001c0006t0001g0276 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0001g0292 a0001c0033t0001g0070 a0016c0036t0001g0344 a0035c0062t0001g0315	18	357	0.0504	172	c.299 others(191): Show c.2995+1427_2995+1428insGGCCCGGCCTGGTCTCAAACTCCTGG GCTCAGGCAATCCTCCGCCTCAACCTCCCAAAGTGTTGGAATCACAGGCA TGAGCCACCAGGCCCGGCCTGGTCTCAAACTCCTGGGCTCAGGCAATCCT CCGCCTCAAACTCCCAAAGTGTTGGGATCACAGGCATGAGCCACCA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	22/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16168243	A A	ACACTTTG others(165): Show ACACTTTGGGAGTTTGAGGCGGAGGATTGCCTGAGCCCAGGAGTTTGAGA CCAGGCCGGGCCTGGTGGCTCATGCCTGTGATCCCAACACTTTGGGAGGT TGAGGCGGAGGATTGCCTGAGCCCAGGAGTTTGAGACCAGGCCGGGCCTG GTGGCTCATGCCTGTGATCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(42): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02698.hp1 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 NA18949.hp1 NA18953.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18986.hp2 NA18993.hp2 NA19002.hp2 NA19011.hp1 NA19060.hp1 NA19066.hp1 NA20129.hp2 NA20752.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0010 a0019 a0023	a0002c0013 a0002c0051 a0003c0005 others(9): Show a0002c0013 a0002c0051 a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0004c0010 a0010c0029 a0010c0042 a0010c0045 a0019c0027 a0023c0076	a0002c0013t0001 a0002c0051t0001 a0003c0005t0001 others(11): Show a0002c0013t0001 a0002c0051t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0004c0010t0001 a0010c0029t0001 a0010c0042t0001 a0010c0045t0001 a0019c0027t0007 a0023c0076t0001	a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 others(42): Show a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0051t0001g0353 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0083 a0003c0005t0001g0134 a0003c0005t0001g0157 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0196 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0314 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0105 a0003c0007t0001g0110 a0003c0007t0001g0111 a0003c0007t0001g0211 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0004c0010t0001g0045 a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 a0010c0045t0001g0107 a0019c0027t0007g0293 a0019c0027t0007g0294 a0023c0076t0001g0047	45	357	0.1261	172	c.299 others(191): Show c.2995+1402_2995+1403insGTGGGATCACAGGCATGAGCCACCAG GCCCGGCCTGGTCTCAAACTCCTGGGCTCAGGCAATCCTCCGCCTCAACC TCCCAAAGTGTTGGGATCACAGGCATGAGCCACCAGGCCCGGCCTGGTCT CAAACTCCTGGGCTCAGGCAATCCTCCGCCTCAAACTCCCAAAGTG	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	22/30			chr16	TogoVar
ABR_chr17_998519_1184981	1062199	C C	CGTGAACT others(165): Show CGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAAC TGAGGGCTATACATGTTCCTCTAGACACTGCTGTTATGTGAACTGAGGGC TATGCGTGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCAT GTTCCTCTAGACGCTGTTGTTAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0227 a0001c0006t0047g0227	1	337	0.0030	172	c.118 others(191): Show c.1183-3333_1183-3332insATAACAACAGCGTCTAGAGGAACATG CATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACACGCATAGCC CTCAGTTCACATAACAGCAGTGTCTAGAGGAACATGTATAGCCCTCAGTT CACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1065104	C C	CGTGAACT others(165): Show CGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAAC TGAGGGCTATGCATGTTCCTCTAGACACTGCTGTTACGTGAACTGAGGGC TATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCAT GTTCCTCTAGACACTGTTGTTAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0017 a0001c0004t0037g0017	1	337	0.0030	172	c.118 others(191): Show c.1182+1972_1182+1973insATAACAACAGTGTCTAGAGGAACATG CATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCC CTCAGTTCACGTAACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTT CACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289337	C C	CCCCGTGT others(165): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	295	0.0034	172	c.42 others(183): Show c.4226_*4227insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGAATGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3053		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289579	T T	TCCCGTGT others(165): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0110 a0001c0020t0002g0110	1	295	0.0034	172	c.39 others(183): Show c.3984_*3985insGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2811		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289633	T T	TCCCCCGT others(165): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	295	0.0034	172	c.39 others(183): Show c.3930_*3931insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGGGACACGGGAC GGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2757		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(165): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	295	0.0034	172	c.34 others(183): Show c.3435_*3436insACGGAGCAGAGACTCGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACSM2B_chr16_20531226_20581367	20566718	G G	GTATATAT others(165): Show GTATATATATACTATATATACTATATATAGTATATACTATATATACTATA TATAGTATATACTATATATACTATATATAGTATATACTATATATACTATA TATAGTATATATAGTATATATAGTATATACTATATATAGTATATACTATA TATACTATATATAGTATATACTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0305 a0001c0002t0004g0305	1	388	0.0026	172	c.-8- others(187): Show c.-8-1866_-8-1865insTAGTATATACTATATATAGTATATATAGTA TATACTATATATAGTATATACTATATATACTATATATACTATATATAGTA TATATAGTATATACTATATATAGTATATATAGTATATACTATATATAGTA TATATAGTATATACTATATATAGTATATATAGTATATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(165): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTAAATTTATATATCATAT ATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03834.hp1 HG03098.hp2 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	2	418	0.0048	172	c.-10 others(183): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATTTAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(165): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	418	0.0024	172	c.-10 others(183): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS3_chr4_72275969_72574221	72456132	A A	ATATATAC others(165): Show ATATATACTGTATATACTTTATATATAGTATATATACTGTATATACTATA TATATTTTATATATAGTATATATAGTATATATACTATATATATTTTATAT ATAGTATATATACTATATATATTTTATATATAGTATATATACTATATATA TTTTATATATAGTATATATATTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0092 a0001c0003t0001g0090 a0001c0001t0001g0092 a0001c0003t0001g0090	2	182	0.0110	172	c.505 others(191): Show c.505-41162_505-41161insCAATATATATACTATATATAAAATAT ATATAGTATATATACTATATATAAAATATATATAGTATATATACTATATA TAAAATATATATAGTATATATACTATATATACTATATATAAAATATATAT AGTATATACAGTATATATACTATATATAAAGTATATACAGTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADGB_chr6_146593972_146820462	146615248	T T	TAAGAATT others(165): Show TAAGAATTCACCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0024 a0008c0016t0002g0024	1	276	0.0036	172	c.74+ others(189): Show c.74+16144_74+16145insCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAC	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(165): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0091 a0002c0005t0010g0091	1	218	0.0046	172	c.32- others(185): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADM2_chr22_50476543_50491437	50488407	T T	TGGTGCTT others(165): Show TGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCA CGGCCCCCCGACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTG GGATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCGACGG CTGCCTGTCCCTCTGGTGGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03486.hp2 NA19240.hp1 HG02109.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0001 a0001c0001t0025g0001 a0001c0001t0004g0001 a0001c0001t0025g0001	3	446	0.0067	172	c.55 others(183): Show c.5504_*5505insGGTGCTTGGCCTGGGATACTACCTGGGGGACAGG CCAGTGCACCCCCCACGGCCCCCCGACGGCTGCCTGTCCCTCTGGTGGCC TCGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCC ACGGCCCCCCGACGGCTGCCTGTCCCTCTGGTGGCCTC	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding		1971		chr22	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTCCCT others(165): Show TCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02083.hp2 HG02129.hp2 others(9): Show HG01081.hp2 HG02083.hp2 HG02129.hp2 HG02258.hp1 HG03704.hp1 NA18950.hp1 NA18950.hp2 NA18974.hp2 NA19000.hp1 NA19010.hp1 NA19074.hp1 NA20129.hp1	a0001 a0005 a0012 others(4): Show a0001 a0005 a0012 a0016 a0017 a0024 a0052	a0001c0004 a0005c0006 a0012c0044 others(4): Show a0001c0004 a0005c0006 a0012c0044 a0016c0066 a0017c0064 a0024c0056 a0052c0067	a0001c0004t0004 a0001c0004t0017 a0001c0004t0054 others(7): Show a0001c0004t0004 a0001c0004t0017 a0001c0004t0054 a0001c0004t0064 a0005c0006t0004 a0012c0044t0048 a0016c0066t0001 a0017c0064t0063 a0024c0056t0004 a0052c0067t0004	a0001c0004t0004g0164 a0001c0004t0004g0184 a0001c0004t0017g0109 others(9): Show a0001c0004t0004g0164 a0001c0004t0004g0184 a0001c0004t0017g0109 a0001c0004t0054g0090 a0001c0004t0064g0097 a0005c0006t0004g0093 a0005c0006t0004g0187 a0012c0044t0048g0160 a0016c0066t0001g0091 a0017c0064t0063g0162 a0024c0056t0004g0026 a0052c0067t0004g0261	12	262	0.0458	172	c.106 others(191): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFDN_chr6_167821911_167977023	167976173	G G	GCAGTGGG others(165): Show GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTG GGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTC ACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCC TGCAGTGTGTTGGGAGGAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0101 a0001c0010t0001g0101	1	326	0.0031	172	c.62 others(183): Show c.6238_*6239insCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAG GAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGT GGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4151		chr6	TogoVar
AHRR_chr5_316714_443285	344542	T T	TGTGTGTG others(165): Show TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGAGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	268	0.0037	172	c.62+ others(185): Show c.62+649_62+650insAGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCT GTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4713900	C C	CTACACAT others(165): Show CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCAC ATATACACGCCTCCACATATACACACCTACACATATACACCTACACATAT ACACGCCTACACATATACACGCCTACACATACACGCCTACACATATACGC CTACACGTATACACCTACACGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02165.hp2 others(14): Show HG00741.hp2 HG01884.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp1 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18982.hp2 NA18985.hp2 NA19076.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0003 a0001c0001t0006 a0005c0004t0003 a0001c0001t0003 a0001c0001t0006 a0005c0004t0003	a0001c0001t0003g0016 a0001c0001t0003g0048 a0001c0001t0003g0090 others(13): Show a0001c0001t0003g0016 a0001c0001t0003g0048 a0001c0001t0003g0090 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0152 a0001c0001t0003g0222 a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0003g0356 a0001c0001t0006g0005 a0001c0001t0006g0015 a0001c0001t0006g0218 a0005c0004t0003g0014	17	462	0.0368	172	c.564 others(187): Show c.564-805_564-804insTACGTGTAGGTGTATACGTGTAGGCGTATA TGTGTAGGCGTGTATGTGTAGGCGTGTATATGTGTAGGCGTGTATATGTG TAGGTGTATATGTGTAGGTGTGTATATGTGGAGGCGTGTATATGTGGAGG TGTGTATGTGGAGGTGTGTATATGTGGAGGTGTATATGTGTA	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(165): Show AATATATATATACATATATAAATATATATATACATATATAAATATATATA CATATATAAATATATATACATATATAAATATATATACATATATAAATATA TATACATATATAAATATATATACATATATAAATATATATATACATATATA AATATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0231 a0001c0001t0004g0232	2	462	0.0043	172	c.151 others(189): Show c.151+5564_151+5565insATTTATATATGTATATATATATTTATAT ATGTATATATATATTTATATATGTATATATATTTATATATGTATATATAT TTATATATGTATATATATTTATATATGTATATATATTTATATATGTATAT ATATTTATATATGTATATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(165): Show AATATATATATACATATATAAATATATATATACATATATAAATATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAAATATATATATACATATA TAAATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	462	0.0022	172	c.151 others(189): Show c.151+5564_151+5565insATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATAT ATATTTATATATGTATATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735390	A A	AATATATA others(165): Show AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATATACATATATAAATATATATATACATATATA AATATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	462	0.0022	172	c.151 others(189): Show c.151+5546_151+5547insATTTATATATGTATATATATATTTATAT ATGTATATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATTTATATATGTATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
ANGEL1_chr14_76781009_76817882	76793391	A A	AGGAGGGG others(165): Show AGGAGGGGAGAGGGGAGAGGAGGGGAGGGTAGGGGAGGGGAGGGGAGAGG AGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGG AGGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGG AGGGGAGAGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	396	0.0025	172	c.161 others(191): Show c.1619-2026_1619-2025insCCTCCCCTCCCCTCCTCTCCCCTCCC CTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCC CTCCCCTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCT CTCCCCTCCCCTCCCCTACCCTCCCCTCCTCTCCCCTCTCCCCTCC	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9			chr14	TogoVar
ANO2_chr12_5557655_5950259	5923078	A A	ACATACAC others(165): Show ACATACACACACGCATACACACACACACGCACACACACACACACACGCAC GCACACACACCCACATACACACACACATGCACACATACACACACGCATAC ACACACACACACATACACACACATGCACGCACACACACACCCACATACAC ACACATGCACACATACACACACG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0054 a0004c0009t0001g0054	1	162	0.0062	172	c.23- others(185): Show c.23-275_23-274insCGTGTGTGTATGTGTGCATGTGTGTGTATGTG GGTGTGTGTGTGCGTGCATGTGTGTGTATGTGTGTGTGTGTGTATGCGTG TGTGTATGTGTGCATGTGTGTGTGTATGTGGGTGTGTGTGCGTGCGTGTG TGTGTGTGTGTGCGTGTGTGTGTGTATGCGTGTGTGTATG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218100	G G	GGGCAGCG others(165): Show GGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAG GGGCGGGGCGGGGGCAGCGGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAG CGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGG AGCGGGGGCAGCGGGGGCGCGCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0008 a0001c0071t0008	a0001c0071t0008g0378 a0001c0071t0008g0378	1	396	0.0025	172	c.217 others(189): Show c.2179-137_2179-136insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGGCGCGTAG GGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAG CGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241218100	G G	GGGCAGCG others(165): Show GGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCA GGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAG CGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGG AGCGGGGGCAGCGGGGGCGCGCA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0169 a0001c0008t0004g0169	1	396	0.0025	172	c.217 others(189): Show c.2179-137_2179-136insCAGCGGGGGGCGCGCAGGGGCGGAGCGG GGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAG GGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAG CGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGAAGG others(165): Show AAGGAAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAA GGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAA GGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0340 a0012c0013t0001g0340	1	386	0.0026	172	c.416 others(187): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTT CCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTTCCTTCCTTC CTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGAAGG others(165): Show AAGGAAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAA AGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAA GGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0029 a0004c0004t0003g0029	1	386	0.0026	172	c.416 others(187): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTT CCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTC CTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TCCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
ARHGAP42_chr11_100682288_100998941	100779542	A A	ATATATAT others(165): Show ATATATATACGTATACATACGTATATATACGTATATATATACGTATACAT ACGTATATATACGTATACATACGTATATATATACGTATATATATACGTAT ACATACGTATATATATACGTATACATACGTATATATATACGTATATATAT ACGTATACATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0104 a0002c0002t0020g0104	1	286	0.0035	172	c.250 others(189): Show c.250+9113_250+9114insGTATACATACGTATATATACGTATATAT ATACGTATACATACGTATATATACGTATACATACGTATATATATACGTAT ATATATACGTATACATACGTATATATATACGTATACATACGTATATATAT ACGTATATATATACGTATACATACGTATATATACGTATATATAC	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(165): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	264	0.0038	172	c.102 others(189): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(165): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCTCCCCTCCCCCTCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	264	0.0038	172	c.102 others(189): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCTCCCTCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCTCCCCCTCC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(165): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0138 a0001c0004t0001g0138	1	264	0.0038	172	c.102 others(189): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130256739	T T	TTATATAT others(165): Show TTATATATATATATATATATATATATATATATATCCTTATATATATATAA GCTTTTATTAAATTACATTTTGTGGATTGAGTTATACTTTAGAACATATT TAAAGAAAAATATAGCTTGAAGTCAGGAAGGATAAAGAAAATTCAAAATC TTCTTCCTGAATATACACATTCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	308	0.0033	172	c.187 others(191): Show c.187-19746_187-19745insTGAATGTGTATATTCAGGAAGAAGAT TTTGAATTTTCTTTATCCTTCCTGACTTCAAGCTATATTTTTCTTTAAAT ATGTTCTAAAGTATAACTCAATCCACAAAATGTAATTTAATAAAAGCTTA TATATATATAAGGATATATATATATATATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(165): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01516.hp2 others(5): Show HG00735.hp1 HG01081.hp2 HG01516.hp2 HG01517.hp2 HG03239.hp1 HG03579.hp1 NA18969.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0015 a0002c0002t0002 others(3): Show a0001c0001t0003 a0001c0001t0015 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0003c0003t0026	a0001c0001t0003g0226 a0001c0001t0015g0008 a0002c0002t0002g0293 others(3): Show a0001c0001t0003g0226 a0001c0001t0015g0008 a0002c0002t0002g0293 a0002c0002t0003g0301 a0002c0002t0010g0278 a0003c0003t0026g0129	8	378	0.0212	172	c.960 others(189): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(165): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00673.hp1 others(5): Show HG00423.hp1 HG00621.hp1 HG00673.hp1 HG02027.hp2 NA18947.hp2 NA18970.hp2 NA19062.hp1 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0151 a0001c0001t0001g0189 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0151 a0001c0001t0001g0189 a0002c0002t0001g0188 a0002c0002t0001g0247 a0003c0003t0001g0175 a0003c0003t0001g0186	8	378	0.0212	172	c.960 others(189): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(165): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TTCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG01884.hp1 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0013 a0004c0006 a0002c0013 a0004c0006	a0002c0013t0031 a0004c0006t0008 a0002c0013t0031 a0004c0006t0008	a0002c0013t0031g0051 a0004c0006t0008g0049 a0002c0013t0031g0051 a0004c0006t0008g0049	2	378	0.0053	172	c.960 others(189): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results